CHM

Choroideremia (Rab escort protein 1)
Diseases associated with this gene: CHM
LOVD Gene: CHM
NCBI Gene: CHM
Gene Home Reference: CHM
Ensembl gene: ENSG00000188419
Ensembl location: ENSG00000188419

OMIM gene: 300390
Curator: Robert Perniola
Download Finnish CHM variants in tab-separated format.

 Finnish Variants

Filtered from source LSDB
Path. Location Exon DNA change DNA old nomenclature RNA change Protein Inheritance Variant remarks Reference HSF dbSNP/RFC Missense Re-site DB-ID Genomic DNA change Patient ID Disease Reference Template Technique Remarks # Reported Gender Geographic origin
+/+ Exon 01-15 c.-29-?_5412+?del 1-?_5442+?del r.0 p.0 Hemizygous Total deletion of the gene. Deletion extending from DXS110 to DXS121. van Bokhoven et al., 1994 - RFC1-15 - - CHM_00099 g.85116185-?_85302565+?del NL010420001 Choroideremia (CHM) van Bokhoven et al., 1994 DNA SEQ - 1 Male Finland
+/+ Exon 09-13 c.1167-?_1609+?del 1197-?_1639+?del r.(?) p.(?) Hemizygous - Cremers et al., 1990 - RFC9-13 - - CHM_00107 g.85133970-?_85166343+?del NL010510001 Choroideremia (CHM) Cremers et al., 1990 DNA SEQ - 1 Male Finland
+/+ Exon 03-08 c.117-?_1166+?del 147-?_1196+?del r.(?) p.(?) Hemizygous - Cremers et al., 1990 - RFC3-8 - - CHM_00111 g.85211158-?_85236813+?del NL010480001 Choroideremia (CHM) Cremers et al., 1990 DNA SEQ - 1 Male Finland
+/+ Intron 13i c.1609+2dupT 1639+2_1639+3insT r.(?) p.(?) Hemizygous - Sankila et al., 1992 HSF - - +MseI CHM_00085 g.85133968dup NL010310001 Choroideremia (CHM) Sankila et al., 1992 DNA SSCA - 1 Male FINLAND


 All Variants

Source LSDB CHM - All Variants





FinDis has received funding from the Academy of Finland, Center of Excellence in Disease Genetics
and the European Community's Seventh Framework Programme (FP7/2007-2013) under grant agreement number 200754 - the GEN2PHEN project.