Have questions? Visit https://www.reddit.com/r/SNPedia

rs606231128

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(-;-) 0 common in clinvar
(-;TGCC) 3 Carrier of a mutation for congenital myasthenic syndrome
(TGCC;TGCC) 5.5 Congenital myasthenic syndrome, type 10
ReferenceGRCh38.p2 38.2/144
Chromosome4
Position3493113
GeneDOK7
is asnp
is mentioned by
dbSNPrs606231128
ClinGenrs606231128
ebirs606231128
HLIrs606231128
Exacrs606231128
Varsomers606231128
Maprs606231128
PheGenIrs606231128
hapmaprs606231128
1000 genomesrs606231128
hgdprs606231128
ensemblrs606231128
gopubmedrs606231128
geneviewrs606231128
scholarrs606231128
googlers606231128
pharmgkbrs606231128
gwascentralrs606231128
openSNPrs606231128
23andMers606231128
23andMe allrs606231128
SNP Nexus

SNPshotrs606231128
SNPdbers606231128
MSV3drs606231128
GWAS Ctlgrs606231128
Merged fromRs764365793
Max Magnitude5.5

rs606231128, also known as c.1124_1127dupTGCC or p.Ala378Serfs, represents a rare mutation in the DOK7 on chromosome 4.

Inherited recessively, the minor allele is considered by ClinVar (and BabySeq) to be pathogenic for congenital myasthenic syndrome, type 10.


ClinVar
Risk rs606231128(GCCT;GCCT) Rs606231128(TGCC;TGCC)
Alt rs606231128(GCCT;GCCT) Rs606231128(TGCC;TGCC)
Reference Rs606231128(-;-)
Significance Pathogenic
Disease Myasthenia not provided Congenital myasthenic syndrome
Variation info
Gene DOK7
CLNDBN Myasthenia, limb-girdle, familial not provided Congenital myasthenic syndrome
Reversed 0
HGVS NC_000004.11:g.3494837_3494840dupTGCC
CLNSRC OMIM Allelic Variant
CLNACC RCV000001335.5, RCV000202989.1, RCV000235027.1,