CLN5


Ceroid-lipofuscinosis neuronal protein 5 Precursor

Ensembl gene entry
Ensembl gene location
Omim gene
Genetics Home Reference entry

Diseases associated to this gene:
CLN5

Finnish Mutations

Mutation Consequence Amino acid change Reference sequence Articles
1961_1962insC Frameshift after H223, truncated protein AF068227 10953198
2467_2468delAT Y392X 9662406
517G>A W75X 9662406


Foreign Mutations

Mutation Consequence Amino acid change Reference sequence Population Articles
1961_1962insC Frameshift after H223, truncated protein AF068227 Swedish 10953198
2127G>A D279N Portuguese, Dutch 9662406
EX4del Caucasian 20157158
c.1002-1006delAACA 368Kfs HD070030 Spanish 18465145
c.1071_1072delCT L358AfsX4 Chinese 20157158
c.1072_1073delTT L358AfsX4 NM_006493.2 Pakistani 19309691
c.1083delT F361LfsX4 Hispanic 20157158
c.1121A>G Y374C Caucasian 20157158
c.1137G>T W379C NM_006493.2 Afghan 19309691
c.1627G>A R112H Columbian, British 15728307
c.291insC S98fs HI070015 Argentinian 18465145
c.335G>C R112P Portuguese 16814585
c.377G>A C126Y Caucasian 20157158
c.527insA T176NfsX11 Pakistani 20157158
c.565C>T Q198X Portuguese 16814585
c.575A>G N192S Asian Indian 20157158
c.620G>C W207S Chinese 20157158
c.669insC W224LfsX30 Swedish 20157158
c.671G>A W224X French Canadian, UK, Irish, Dutch 20157158
c.772T>G Y258D Italian 17607606
c.919delA R307EfsX29 Egyptian 20157158