Annotation Detail
Information
- Associated Genes
- CLCN1
- Associated Variants
-
CLCN1 p.Gly777AlafsTer17 (p.G777Afs*17)
(
ENST00000343257.7,
ENST00000650516.2 )
CLCN1 p.Gly777AlafsTer17 (p.G777Afs*17) ( ENST00000343257.7, ENST00000650516.2 )
CLCN1 p.Met128Val (p.M128V) ( ENST00000343257.7, ENST00000650516.2 )
CLCN1 p.Ser132Cys (p.S132C) ( ENST00000343257.7, ENST00000650516.2 )
CLCN1 p.Glu193Lys (p.E193K) ( ENST00000343257.7, ENST00000650516.2 )
CLCN1 p.Leu198Val (p.L198V) ( ENST00000343257.7, ENST00000650516.2 )
CLCN1 p.Gly230Glu (p.G230E) ( ENST00000343257.7, ENST00000650516.2 )
CLCN1 p.Thr268Met (p.T268M) ( ENST00000343257.7, ENST00000650516.2 )
CLCN1 p.Leu283Phe (p.L283F) ( ENST00000343257.7, ENST00000650516.2 )
CLCN1 p.Val286Ala (p.V286A) ( ENST00000343257.7, ENST00000650516.2 )
CLCN1 p.Ile290Met (p.I290M) ( ENST00000343257.7, ENST00000650516.2 )
CLCN1 p.Ile290= (p.I290=) ( ENST00000343257.7, ENST00000650516.2 )
CLCN1 p.Phe307Ser (p.F307S) ( ENST00000343257.7, ENST00000650516.2 )
CLCN1 p.Thr310Met (p.T310M) ( ENST00000343257.7, ENST00000650516.2 )
CLCN1 p.Ala313Thr (p.A313T) ( ENST00000343257.7, ENST00000650516.2 )
CLCN1 p.Arg317Gln (p.R317Q) ( ENST00000343257.7, ENST00000650516.2 )
CLCN1 p.Arg338Gln (p.R338Q) ( ENST00000343257.7, ENST00000650516.2 )
CLCN1 p.Phe428Ser (p.F428S) ( ENST00000343257.7, ENST00000650516.2 )
CLCN1 p.Ser471Phe (p.S471F) ( ENST00000343257.7, ENST00000650516.2 )
CLCN1 p.Pro480Thr (p.P480T) ( ENST00000343257.7, ENST00000650516.2 )
CLCN1 p.Pro480Leu (p.P480L) ( ENST00000343257.7, ENST00000650516.2 )
CLCN1 p.Ala531Val (p.A531V) ( ENST00000343257.7, ENST00000650516.2 )
CLCN1 p.Thr550Met (p.T550M) ( ENST00000343257.7, ENST00000650516.2 )
CLCN1 p.Gln552Arg (p.Q552R) ( ENST00000343257.7, ENST00000650516.2 )
CLCN1 p.Gln552Leu (p.Q552L) ( ENST00000343257.7, ENST00000650516.2 )
CLCN1 p.Ile556Asn (p.I556N) ( ENST00000343257.7, ENST00000650516.2 )
CLCN1 p.Arg894= (p.R894=) ( ENST00000343257.7, ENST00000650516.2 )
CLCN1 p.Arg894Ter (p.R894*) ( ENST00000343257.7, ENST00000650516.2 )
CLCN1 p.Pro932Leu (p.P932L) ( ENST00000343257.7, ENST00000650516.2 )
CLCN1 p.Arg976Ter (p.R976*) ( ENST00000343257.7, ENST00000650516.2 )
CLCN1 p.Met128Val (p.M128V) ( ENST00000343257.7, ENST00000650516.2 )
CLCN1 p.Ser132Cys (p.S132C) ( ENST00000343257.7, ENST00000650516.2 )
CLCN1 p.Glu193Lys (p.E193K) ( ENST00000343257.7, ENST00000650516.2 )
CLCN1 p.Leu198Val (p.L198V) ( ENST00000343257.7, ENST00000650516.2 )
CLCN1 p.Gly230Glu (p.G230E) ( ENST00000343257.7, ENST00000650516.2 )
CLCN1 p.Thr268Met (p.T268M) ( ENST00000343257.7, ENST00000650516.2 )
CLCN1 p.Leu283Phe (p.L283F) ( ENST00000343257.7, ENST00000650516.2 )
CLCN1 p.Val286Ala (p.V286A) ( ENST00000343257.7, ENST00000650516.2 )
CLCN1 p.Ile290Met (p.I290M) ( ENST00000343257.7, ENST00000650516.2 )
CLCN1 p.Ile290= (p.I290=) ( ENST00000343257.7, ENST00000650516.2 )
CLCN1 p.Phe307Ser (p.F307S) ( ENST00000343257.7, ENST00000650516.2 )
CLCN1 p.Thr310Met (p.T310M) ( ENST00000343257.7, ENST00000650516.2 )
CLCN1 p.Ala313Thr (p.A313T) ( ENST00000343257.7, ENST00000650516.2 )
CLCN1 p.Arg317Gln (p.R317Q) ( ENST00000343257.7, ENST00000650516.2 )
CLCN1 p.Arg338Gln (p.R338Q) ( ENST00000343257.7, ENST00000650516.2 )
CLCN1 p.Phe428Ser (p.F428S) ( ENST00000343257.7, ENST00000650516.2 )
CLCN1 p.Ser471Phe (p.S471F) ( ENST00000343257.7, ENST00000650516.2 )
CLCN1 p.Pro480Thr (p.P480T) ( ENST00000343257.7, ENST00000650516.2 )
CLCN1 p.Pro480Leu (p.P480L) ( ENST00000343257.7, ENST00000650516.2 )
CLCN1 p.Ala531Val (p.A531V) ( ENST00000343257.7, ENST00000650516.2 )
CLCN1 p.Thr550Met (p.T550M) ( ENST00000343257.7, ENST00000650516.2 )
CLCN1 p.Gln552Arg (p.Q552R) ( ENST00000343257.7, ENST00000650516.2 )
CLCN1 p.Gln552Leu (p.Q552L) ( ENST00000343257.7, ENST00000650516.2 )
CLCN1 p.Ile556Asn (p.I556N) ( ENST00000343257.7, ENST00000650516.2 )
CLCN1 p.Arg894= (p.R894=) ( ENST00000343257.7, ENST00000650516.2 )
CLCN1 p.Arg894Ter (p.R894*) ( ENST00000343257.7, ENST00000650516.2 )
CLCN1 p.Pro932Leu (p.P932L) ( ENST00000343257.7, ENST00000650516.2 )
CLCN1 p.Arg976Ter (p.R976*) ( ENST00000343257.7, ENST00000650516.2 )
CLCN1 p.His838LeufsTer35 (p.H838Lfs*35)
CLCN1 p.His838LeufsTer35 (p.H838Lfs*35) - Associated Disease
- myotonia congenita
- Source Database
- DisGeNET
- Description
- NA
- Original source reporting the Gene Disease association
- CLINVAR
- DisGENET score for the Gene Disease association
- 0.387922294040807
- Year of publication
- NA
Drugs