CLRN1

Clarin 1 (USH3A)
Diseases associated with this gene: USH3A
LOVD Gene: CLRN1
NCBI Gene: CLRN1
Gene Home Reference: CLRN1
Ensembl gene: ENSG00000163646
Ensembl location: ENSG00000163646

OMIM gene: 606397
Curator: David Baux
Download Finnish CLRN1 variants in tab-separated format.

 Finnish Variants

Filtered from source LSDB
Path.
Location
Exon
DNA change  
RNA change
Protein
Protein Domain
Inheritance
Variant remarks
dbSNP/RFC
Reference
Reported effect / publication
Frequency
Missense
HSF
Re-site
DB-ID
Genomic DNA change
Patient ID
Disease
Reference
Template
Technique
Remarks
# Reported
Gender
Geographic origin
+/+ Exon 01 c.144T>G    + c.528T>G r.(?) p.(Asn48Lys) - Heterozygous Pathogenic rs111033258 Isosomppi et al., 2009 - - USMA, MSV3d HSF +PhoI;+StuI;+HaeIII;+CviKI_1; CLRN1_00007 g.150690352A>C FI0106100012 Usher type III (USH3) Isosomppi et al., 2009 DNA SEQ Proband 1 - FINLAND
+/+ Exon 01 c.144T>G    + c.563C>A r.(?) p.(Asn48Lys) - Heterozygous Pathogenic rs111033258 Ratnam et al., 2012 - - USMA, MSV3d HSF +PhoI;+StuI;+HaeIII;+CviKI_1; CLRN1_00007 g.150690352A>C FI0106400011 Usher type III (USH3) Ratnam et al., 2012 DNA SEQ Proband 1 Male FINLAND
+/+ Exon 01 c.144T>G    + c.144T>G r.(?) p.(Asn48Lys) - Homozygous Pathogenic rs111033258 Ratnam et al., 2012 - - USMA, MSV3d HSF +PhoI;+StuI;+HaeIII;+CviKI_1; CLRN1_00007 g.150690352A>C FI0106500020 Usher type III (USH3) Ratnam et al., 2012 DNA SEQ Proband 1 Female FINLAND
+/+ Exon 01 c.144T>G    + c.144T>G r.(?) p.(Asn48Lys) - Homozygous Pathogenic rs111033258 Ratnam et al., 2012 - - USMA, MSV3d HSF +PhoI;+StuI;+HaeIII;+CviKI_1; CLRN1_00007 g.150690352A>C FI0106600030 Usher type III (USH3) Ratnam et al., 2012 DNA SEQ Proband 1 Female FINLAND
+/+ Exon 02 c.359T>A    + c.528T>G r.(?) p.(Met120Lys) Transmembrane 2 (101-121) Heterozygous Pathogenic rs121908141 Joensuu et al., 2001 - 0/302 controls USMA, MSV3d HSF - CLRN1_00004 g.150659443A>T FI0100100011 Usher type III (USH3) Joensuu et al., 2001 DNA SEQ Proband 1 Male FINLAND
+/+ Exon 02 c.359T>A    + c.528T>G r.(?) p.(Met120Lys) Transmembrane 2 (101-121) Heterozygous Pathogenic rs121908141 Joensuu et al., 2001 - 0/302 controls USMA, MSV3d HSF - CLRN1_00004 g.150659443A>T FI0100100021 Usher type III (USH3) Joensuu et al., 2001 DNA SEQ Relative 1 Male FINLAND
+/+ Exon 02 c.359T>A    + c.528T>G r.(?) p.(Met120Lys) Transmembrane 2 (101-121) Heterozygous Pathogenic rs121908141 Joensuu et al., 2001 - 0/302 controls USMA, MSV3d HSF - CLRN1_00004 g.150659443A>T FI0100200012 Usher type III (USH3) Joensuu et al., 2001 DNA SEQ Proband 1 - FINLAND
+/+ Exon 02 c.359T>A    + c.528T>G r.(?) p.(Met120Lys) Transmembrane 2 (101-121) Heterozygous Pathogenic rs121908141 Joensuu et al., 2001 - 0/302 controls USMA, MSV3d HSF - CLRN1_00004 g.150659443A>T FI0100200022 Usher type III (USH3) Joensuu et al., 2001 DNA SEQ Relative 1 - FINLAND
+/+ Exon 02 c.368C>A    + c.368C>A r.(?) p.(Ala123Asp) - Homozygous Pathogenic - Isosomppi et al., 2009 - 0/90 controls USMA, MSV3d HSF - CLRN1_00001 g.150659434G>T FI0106200012 Usher type III (USH3) Isosomppi et al., 2009 DNA SEQ Proband 1 - FINLAND
+/+ Exon 03 c.528T>G    + c.359T>A r.(?) p.(Tyr176*) - Heterozygous Pathogenic rs121908140 Joensuu et al., 2001 - 1/502 controls - HSF - CLRN1_00005 g.150645894A>C FI0100100011 Usher type III (USH3) Joensuu et al., 2001 DNA SEQ Proband 1 Male FINLAND
+/+ Exon 03 c.528T>G    + c.359T>A r.(?) p.(Tyr176*) - Heterozygous Pathogenic rs121908140 Joensuu et al., 2001 - 1/502 controls - HSF - CLRN1_00005 g.150645894A>C FI0100100021 Usher type III (USH3) Joensuu et al., 2001 DNA SEQ Relative 1 Male FINLAND
+/+ Exon 03 c.528T>G    + c.359T>A r.(?) p.(Tyr176*) - Heterozygous Pathogenic rs121908140 Joensuu et al., 2001 - 1/502 controls - HSF - CLRN1_00005 g.150645894A>C FI0100200012 Usher type III (USH3) Joensuu et al., 2001 DNA SEQ Proband 1 - FINLAND
+/+ Exon 03 c.528T>G    + c.359T>A r.(?) p.(Tyr176*) - Heterozygous Pathogenic rs121908140 Joensuu et al., 2001 - 1/502 controls - HSF - CLRN1_00005 g.150645894A>C FI0100200022 Usher type III (USH3) Joensuu et al., 2001 DNA SEQ Relative 1 - FINLAND
+/+ Exon 03 c.528T>G    + c.528T>G r.(?) p.(Tyr176*) - Homozygous Pathogenic rs121908140 Joensuu et al., 2001 - 1/502 controls - HSF - CLRN1_00005 g.150645894A>C FI0100300012 Usher type III (USH3) Joensuu et al., 2001 DNA SEQ Proband 1 - FINLAND
+/+ Exon 03 c.528T>G    + c.528T>G r.(?) p.(Tyr176*) - Homozygous Pathogenic rs121908140 Joensuu et al., 2001 - 1/502 controls - HSF - CLRN1_00005 g.150645894A>C FI0100400012 Usher type III (USH3) Joensuu et al., 2001 DNA SEQ Proband 1 - FINLAND
+/+ Exon 03 c.528T>G    + c.528T>G r.(?) p.(Tyr176*) - Homozygous Pathogenic rs121908140 Joensuu et al., 2001 - 1/502 controls - HSF - CLRN1_00005 g.150645894A>C FI0100500012 Usher type III (USH3) Joensuu et al., 2001 DNA SEQ Proband 1 - FINLAND
+/+ Exon 03 c.528T>G    + c.528T>G r.(?) p.(Tyr176*) - Homozygous Pathogenic rs121908140 Joensuu et al., 2001 - 1/502 controls - HSF - CLRN1_00005 g.150645894A>C FI0100600012 Usher type III (USH3) Joensuu et al., 2001 DNA SEQ Proband 1 - FINLAND
+/+ Exon 03 c.528T>G    + c.528T>G r.(?) p.(Tyr176*) - Homozygous Pathogenic rs121908140 Joensuu et al., 2001 - 1/502 controls - HSF - CLRN1_00005 g.150645894A>C FI0100700012 Usher type III (USH3) Joensuu et al., 2001 DNA SEQ Proband 1 - FINLAND
+/+ Exon 03 c.528T>G    + c.528T>G r.(?) p.(Tyr176*) - Homozygous Pathogenic rs121908140 Joensuu et al., 2001 - 1/502 controls - HSF - CLRN1_00005 g.150645894A>C FI0100800012 Usher type III (USH3) Joensuu et al., 2001 DNA SEQ Proband 1 - FINLAND
+/+ Exon 03 c.528T>G    + c.528T>G r.(?) p.(Tyr176*) - Homozygous Pathogenic rs121908140 Joensuu et al., 2001 - 1/502 controls - HSF - CLRN1_00005 g.150645894A>C FI0100900012 Usher type III (USH3) Joensuu et al., 2001 DNA SEQ Proband 1 - FINLAND
+/+ Exon 03 c.528T>G    + c.528T>G r.(?) p.(Tyr176*) - Homozygous Pathogenic rs121908140 Joensuu et al., 2001 - 1/502 controls - HSF - CLRN1_00005 g.150645894A>C FI0101000012 Usher type III (USH3) Joensuu et al., 2001 DNA SEQ Proband 1 - FINLAND
+/+ Exon 03 c.528T>G    + c.528T>G r.(?) p.(Tyr176*) - Homozygous Pathogenic rs121908140 Joensuu et al., 2001 - 1/502 controls - HSF - CLRN1_00005 g.150645894A>C FI0101100012 Usher type III (USH3) Joensuu et al., 2001 DNA SEQ Proband 1 - FINLAND
+/+ Exon 03 c.528T>G    + c.528T>G r.(?) p.(Tyr176*) - Homozygous Pathogenic rs121908140 Joensuu et al., 2001 - 1/502 controls - HSF - CLRN1_00005 g.150645894A>C FI0106200012 Usher type III (USH3) Joensuu et al., 2001 DNA SEQ Proband 1 - FINLAND
+/+ Exon 03 c.528T>G    + c.528T>G r.(?) p.(Tyr176*) - Homozygous Pathogenic rs121908140 Joensuu et al., 2001 - 1/502 controls - HSF - CLRN1_00005 g.150645894A>C FI0101300012 Usher type III (USH3) Joensuu et al., 2001 DNA SEQ Proband 1 - FINLAND
+/+ Exon 03 c.528T>G    + c.528T>G r.(?) p.(Tyr176*) - Homozygous Pathogenic rs121908140 Joensuu et al., 2001 - 1/502 controls - HSF - CLRN1_00005 g.150645894A>C FI0101400012 Usher type III (USH3) Joensuu et al., 2001 DNA SEQ Proband 1 - FINLAND
Path.
Location
Exon
DNA change  
RNA change
Protein
Protein Domain
Inheritance
Variant remarks
dbSNP/RFC
Reference
Reported effect / publication
Frequency
Missense
HSF
Re-site
DB-ID
Genomic DNA change
Patient ID
Disease
Reference
Template
Technique
Remarks
# Reported
Gender
Geographic origin
+/+ Exon 03 c.528T>G    + c.528T>G r.(?) p.(Tyr176*) - Homozygous Pathogenic rs121908140 Joensuu et al., 2001 - 1/502 controls - HSF - CLRN1_00005 g.150645894A>C FI0106300012 Usher type III (USH3) Joensuu et al., 2001 DNA SEQ Proband 1 - FINLAND
+/+ Exon 03 c.528T>G    + c.528T>G r.(?) p.(Tyr176*) - Homozygous Pathogenic rs121908140 Joensuu et al., 2001 - 1/502 controls - HSF - CLRN1_00005 g.150645894A>C FI0101600012 Usher type III (USH3) Joensuu et al., 2001 DNA SEQ Proband 1 - FINLAND
+/+ Exon 03 c.528T>G    + c.528T>G r.(?) p.(Tyr176*) - Homozygous Pathogenic rs121908140 Joensuu et al., 2001 - 1/502 controls - HSF - CLRN1_00005 g.150645894A>C FI0101700012 Usher type III (USH3) Joensuu et al., 2001 DNA SEQ Proband 1 - FINLAND
+/+ Exon 03 c.528T>G    + c.528T>G r.(?) p.(Tyr176*) - Homozygous Pathogenic rs121908140 Joensuu et al., 2001 - 1/502 controls - HSF - CLRN1_00005 g.150645894A>C FI0101800012 Usher type III (USH3) Joensuu et al., 2001 DNA SEQ Proband 1 - FINLAND
+/+ Exon 03 c.528T>G    + c.528T>G r.(?) p.(Tyr176*) - Homozygous Pathogenic rs121908140 Joensuu et al., 2001 - 1/502 controls - HSF - CLRN1_00005 g.150645894A>C FI0101900012 Usher type III (USH3) Joensuu et al., 2001 DNA SEQ Proband 1 - FINLAND
+/+ Exon 03 c.528T>G    + c.528T>G r.(?) p.(Tyr176*) - Homozygous Pathogenic rs121908140 Joensuu et al., 2001 - 1/502 controls - HSF - CLRN1_00005 g.150645894A>C FI0102000012 Usher type III (USH3) Joensuu et al., 2001 DNA SEQ Proband 1 - FINLAND
+/+ Exon 03 c.528T>G    + c.528T>G r.(?) p.(Tyr176*) - Homozygous Pathogenic rs121908140 Joensuu et al., 2001 - 1/502 controls - HSF - CLRN1_00005 g.150645894A>C FI0102100012 Usher type III (USH3) Joensuu et al., 2001 DNA SEQ Proband 1 - FINLAND
+/+ Exon 03 c.528T>G    + c.528T>G r.(?) p.(Tyr176*) - Homozygous Pathogenic rs121908140 Joensuu et al., 2001 - 1/502 controls - HSF - CLRN1_00005 g.150645894A>C FI0102200012 Usher type III (USH3) Joensuu et al., 2001 DNA SEQ Proband 1 - FINLAND
+/+ Exon 03 c.528T>G    + c.528T>G r.(?) p.(Tyr176*) - Homozygous Pathogenic rs121908140 Joensuu et al., 2001 - 1/502 controls - HSF - CLRN1_00005 g.150645894A>C FI0102300012 Usher type III (USH3) Joensuu et al., 2001 DNA SEQ Proband 1 - FINLAND
+/+ Exon 03 c.528T>G    + c.528T>G r.(?) p.(Tyr176*) - Homozygous Pathogenic rs121908140 Joensuu et al., 2001 - 1/502 controls - HSF - CLRN1_00005 g.150645894A>C FI0102400012 Usher type III (USH3) Joensuu et al., 2001 DNA SEQ Proband 1 - FINLAND
+/+ Exon 03 c.528T>G    + c.528T>G r.(?) p.(Tyr176*) - Homozygous Pathogenic rs121908140 Joensuu et al., 2001 - 1/502 controls - HSF - CLRN1_00005 g.150645894A>C FI0102500012 Usher type III (USH3) Joensuu et al., 2001 DNA SEQ Proband 1 - FINLAND
+/+ Exon 03 c.528T>G    + c.528T>G r.(?) p.(Tyr176*) - Homozygous Pathogenic rs121908140 Joensuu et al., 2001 - 1/502 controls - HSF - CLRN1_00005 g.150645894A>C FI0102600012 Usher type III (USH3) Joensuu et al., 2001 DNA SEQ Proband 1 - FINLAND
+/+ Exon 03 c.528T>G    + c.528T>G r.(?) p.(Tyr176*) - Homozygous Pathogenic rs121908140 Joensuu et al., 2001 - 1/502 controls - HSF - CLRN1_00005 g.150645894A>C FI0102700012 Usher type III (USH3) Joensuu et al., 2001 DNA SEQ Proband 1 - FINLAND
+/+ Exon 03 c.528T>G    + c.528T>G r.(?) p.(Tyr176*) - Homozygous Pathogenic rs121908140 Joensuu et al., 2001 - 1/502 controls - HSF - CLRN1_00005 g.150645894A>C FI0102800012 Usher type III (USH3) Joensuu et al., 2001 DNA SEQ Proband 1 - FINLAND
+/+ Exon 03 c.528T>G    + c.528T>G r.(?) p.(Tyr176*) - Homozygous Pathogenic rs121908140 Joensuu et al., 2001 - 1/502 controls - HSF - CLRN1_00005 g.150645894A>C FI0102900012 Usher type III (USH3) Joensuu et al., 2001 DNA SEQ Proband 1 - FINLAND
+/+ Exon 03 c.528T>G    + c.528T>G r.(?) p.(Tyr176*) - Homozygous Pathogenic rs121908140 Joensuu et al., 2001 - 1/502 controls - HSF - CLRN1_00005 g.150645894A>C FI0103000012 Usher type III (USH3) Joensuu et al., 2001 DNA SEQ Proband 1 - FINLAND
+/+ Exon 03 c.528T>G    + c.528T>G r.(?) p.(Tyr176*) - Homozygous Pathogenic rs121908140 Joensuu et al., 2001 - 1/502 controls - HSF - CLRN1_00005 g.150645894A>C FI0103100012 Usher type III (USH3) Joensuu et al., 2001 DNA SEQ Proband 1 - FINLAND
+/+ Exon 03 c.528T>G    + c.528T>G r.(?) p.(Tyr176*) - Homozygous Pathogenic rs121908140 Joensuu et al., 2001 - 1/502 controls - HSF - CLRN1_00005 g.150645894A>C FI0103200012 Usher type III (USH3) Joensuu et al., 2001 DNA SEQ Proband 1 - FINLAND
+/+ Exon 03 c.528T>G    + c.528T>G r.(?) p.(Tyr176*) - Homozygous Pathogenic rs121908140 Joensuu et al., 2001 - 1/502 controls - HSF - CLRN1_00005 g.150645894A>C FI0103300012 Usher type III (USH3) Joensuu et al., 2001 DNA SEQ Proband 1 - FINLAND
+/+ Exon 03 c.528T>G    + c.528T>G r.(?) p.(Tyr176*) - Homozygous Pathogenic rs121908140 Joensuu et al., 2001 - 1/502 controls - HSF - CLRN1_00005 g.150645894A>C FI0103400012 Usher type III (USH3) Joensuu et al., 2001 DNA SEQ Proband 1 - FINLAND
+/+ Exon 03 c.528T>G    + c.528T>G r.(?) p.(Tyr176*) - Homozygous Pathogenic rs121908140 Joensuu et al., 2001 - 1/502 controls - HSF - CLRN1_00005 g.150645894A>C FI0103500012 Usher type III (USH3) Joensuu et al., 2001 DNA SEQ Proband 1 - FINLAND
+/+ Exon 03 c.528T>G    + c.528T>G r.(?) p.(Tyr176*) - Homozygous Pathogenic rs121908140 Joensuu et al., 2001 - 1/502 controls - HSF - CLRN1_00005 g.150645894A>C FI0103600012 Usher type III (USH3) Joensuu et al., 2001 DNA SEQ Proband 1 - FINLAND
+/+ Exon 03 c.528T>G    + c.528T>G r.(?) p.(Tyr176*) - Homozygous Pathogenic rs121908140 Joensuu et al., 2001 - 1/502 controls - HSF - CLRN1_00005 g.150645894A>C FI0103700012 Usher type III (USH3) Joensuu et al., 2001 DNA SEQ Proband 1 - FINLAND
+/+ Exon 03 c.528T>G    + c.528T>G r.(?) p.(Tyr176*) - Homozygous Pathogenic rs121908140 Joensuu et al., 2001 - 1/502 controls - HSF - CLRN1_00005 g.150645894A>C FI0103800012 Usher type III (USH3) Joensuu et al., 2001 DNA SEQ Proband 1 - FINLAND
+/+ Exon 03 c.528T>G    + c.528T>G r.(?) p.(Tyr176*) - Homozygous Pathogenic rs121908140 Joensuu et al., 2001 - 1/502 controls - HSF - CLRN1_00005 g.150645894A>C FI0103900012 Usher type III (USH3) Joensuu et al., 2001 DNA SEQ Proband 1 - FINLAND
Path.
Location
Exon
DNA change  
RNA change
Protein
Protein Domain
Inheritance
Variant remarks
dbSNP/RFC
Reference
Reported effect / publication
Frequency
Missense
HSF
Re-site
DB-ID
Genomic DNA change
Patient ID
Disease
Reference
Template
Technique
Remarks
# Reported
Gender
Geographic origin
+/+ Exon 03 c.528T>G    + c.528T>G r.(?) p.(Tyr176*) - Homozygous Pathogenic rs121908140 Joensuu et al., 2001 - 1/502 controls - HSF - CLRN1_00005 g.150645894A>C FI0104000012 Usher type III (USH3) Joensuu et al., 2001 DNA SEQ Proband 1 - FINLAND
+/+ Exon 03 c.528T>G    + c.528T>G r.(?) p.(Tyr176*) - Homozygous Pathogenic rs121908140 Joensuu et al., 2001 - 1/502 controls - HSF - CLRN1_00005 g.150645894A>C FI0104100012 Usher type III (USH3) Joensuu et al., 2001 DNA SEQ Proband 1 - FINLAND
+/+ Exon 03 c.528T>G    + c.528T>G r.(?) p.(Tyr176*) - Homozygous Pathogenic rs121908140 Joensuu et al., 2001 - 1/502 controls - HSF - CLRN1_00005 g.150645894A>C FI0104200012 Usher type III (USH3) Joensuu et al., 2001 DNA SEQ Proband 1 - FINLAND
+/+ Exon 03 c.528T>G    + c.528T>G r.(?) p.(Tyr176*) - Homozygous Pathogenic rs121908140 Joensuu et al., 2001 - 1/502 controls - HSF - CLRN1_00005 g.150645894A>C FI0104300012 Usher type III (USH3) Joensuu et al., 2001 DNA SEQ Proband 1 - FINLAND
+/+ Exon 03 c.528T>G    + c.528T>G r.(?) p.(Tyr176*) - Homozygous Pathogenic rs121908140 Joensuu et al., 2001 - 1/502 controls - HSF - CLRN1_00005 g.150645894A>C FI0104400012 Usher type III (USH3) Joensuu et al., 2001 DNA SEQ Proband 1 - FINLAND
+/+ Exon 03 c.528T>G    + c.528T>G r.(?) p.(Tyr176*) - Homozygous Pathogenic rs121908140 Joensuu et al., 2001 - 1/502 controls - HSF - CLRN1_00005 g.150645894A>C FI0104500012 Usher type III (USH3) Joensuu et al., 2001 DNA SEQ Proband 1 - FINLAND
+/+ Exon 03 c.528T>G    + c.528T>G r.(?) p.(Tyr176*) - Homozygous Pathogenic rs121908140 Joensuu et al., 2001 - 1/502 controls - HSF - CLRN1_00005 g.150645894A>C FI0104600012 Usher type III (USH3) Joensuu et al., 2001 DNA SEQ Proband 1 - FINLAND
+/+ Exon 03 c.528T>G    + c.528T>G r.(?) p.(Tyr176*) - Homozygous Pathogenic rs121908140 Joensuu et al., 2001 - 1/502 controls - HSF - CLRN1_00005 g.150645894A>C FI0104700012 Usher type III (USH3) Joensuu et al., 2001 DNA SEQ Proband 1 - FINLAND
+/+ Exon 03 c.528T>G    + c.528T>G r.(?) p.(Tyr176*) - Homozygous Pathogenic rs121908140 Joensuu et al., 2001 - 1/502 controls - HSF - CLRN1_00005 g.150645894A>C FI0104800012 Usher type III (USH3) Joensuu et al., 2001 DNA SEQ Proband 1 - FINLAND
+/+ Exon 03 c.528T>G    + c.528T>G r.(?) p.(Tyr176*) - Homozygous Pathogenic rs121908140 Joensuu et al., 2001 - 1/502 controls - HSF - CLRN1_00005 g.150645894A>C FI0104900012 Usher type III (USH3) Joensuu et al., 2001 DNA SEQ Proband 1 - FINLAND
+/+ Exon 03 c.528T>G    + c.528T>G r.(?) p.(Tyr176*) - Homozygous Pathogenic rs121908140 Joensuu et al., 2001 - 1/502 controls - HSF - CLRN1_00005 g.150645894A>C FI0105000012 Usher type III (USH3) Joensuu et al., 2001 DNA SEQ Proband 1 - FINLAND
+/+ Exon 03 c.528T>G    + c.528T>G r.(?) p.(Tyr176*) - Homozygous Pathogenic rs121908140 Joensuu et al., 2001 - 1/502 controls - HSF - CLRN1_00005 g.150645894A>C FI0105100012 Usher type III (USH3) Joensuu et al., 2001 DNA SEQ Proband 1 - FINLAND
+/+ Exon 03 c.528T>G    + c.528T>G r.(?) p.(Tyr176*) - Homozygous Pathogenic rs121908140 Joensuu et al., 2001 - 1/502 controls - HSF - CLRN1_00005 g.150645894A>C FI0105200012 Usher type III (USH3) Joensuu et al., 2001 DNA SEQ Proband 1 - FINLAND
+/+ Exon 03 c.528T>G    + c.528T>G r.(?) p.(Tyr176*) - Homozygous Pathogenic rs121908140 Joensuu et al., 2001 - 1/502 controls - HSF - CLRN1_00005 g.150645894A>C FI0105300012 Usher type III (USH3) Joensuu et al., 2001 DNA SEQ Proband 1 - FINLAND
+/+ Exon 03 c.528T>G    + c.528T>G r.(?) p.(Tyr176*) - Homozygous Pathogenic rs121908140 Joensuu et al., 2001 - 1/502 controls - HSF - CLRN1_00005 g.150645894A>C FI0105400012 Usher type III (USH3) Joensuu et al., 2001 DNA SEQ Proband 1 - FINLAND
+/+ Exon 03 c.528T>G    + c.528T>G r.(?) p.(Tyr176*) - Homozygous Pathogenic rs121908140 Plantinga et al., 2005 - - - HSF - CLRN1_00005 g.150645894A>C FI0105600012 Usher type III (USH3) Plantinga et al., 2005 DNA SEQ Proband 1 - FINLAND
+/+ Exon 03 c.528T>G    + c.528T>G r.(?) p.(Tyr176*) - Homozygous Pathogenic rs121908140 Plantinga et al., 2005 - - - HSF - CLRN1_00005 g.150645894A>C FI0105700012 Usher type III (USH3) Plantinga et al., 2005 DNA SEQ Proband 1 - FINLAND
+/+ Exon 03 c.528T>G    + c.528T>G r.(?) p.(Tyr176*) - Homozygous Pathogenic rs121908140 Plantinga et al., 2005 - - - HSF - CLRN1_00005 g.150645894A>C FI0105800012 Usher type III (USH3) Plantinga et al., 2005 DNA SEQ Proband 1 - FINLAND
+/+ Exon 03 c.528T>G    + c.144T>G r.(?) p.(Tyr176*) - Heterozygous Pathogenic rs121908140 Isosomppi et al., 2009 - - - HSF - CLRN1_00005 g.150645894A>C FI0106100012 Usher type III (USH3) Isosomppi et al., 2009 DNA SEQ Proband 1 - FINLAND
+/+ Exon 03 c.528T>G    + c.528T>G, USH2A (1) r.(?) p.(Tyr176*) - Homozygous Pathogenic rs121908140 Vastinsalo et al., 2012 - - - HSF - CLRN1_00005 g.150645894A>C FI0101200020 Usher type III (USH3) Vastinsalo et al., 2012 DNA APEX, SEQ Proband 1 Female FINLAND
+/+ Exon 03 c.528T>G    + c.528T>G, USH2A (2) r.(?) p.(Tyr176*) - Homozygous Pathogenic rs121908140 Vastinsalo et al., 2012 Pathogenic - - HSF - CLRN1_00005 g.150645894A>C FI0101500012 Usher type III (USH3) Vastinsalo et al., 2012 DNA APEX, SEQ Proband 1 - FINLAND
+/+ Exon 03 c.563C>A    + c.144T>G r.(?) p.(Ser188*) Transmembrane 4 (186-206) Heterozygous Pathogenic - Ratnam et al., 2012 - - - HSF +Tsp509I;-MnlI; CLRN1_00034 g.150645859G>T FI0106400011 Usher type III (USH3) Ratnam et al., 2012 DNA SEQ Proband 1 Male FINLAND


 All Variants

Source LSDB CLRN1 - All Variants





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and the European Community's Seventh Framework Programme (FP7/2007-2013) under grant agreement number 200754 - the GEN2PHEN project.