rs606231128

Orientation

plus

Stabilized

plus

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

Reference

GRCh38.p2 38.2/144

Chromosome

4

Position

3493113

Gene

DOK7

is a	snp
is	mentioned by
dbSNP	rs606231128
dbSNP (classic)	rs606231128
ClinGen	rs606231128
ebi	rs606231128
HLI	rs606231128
Exac	rs606231128
Gnomad	rs606231128
Varsome	rs606231128
LitVar	rs606231128
Map	rs606231128
PheGenI	rs606231128
Biobank	rs606231128
1000 genomes	rs606231128
hgdp	rs606231128
ensembl	rs606231128
geneview	rs606231128
scholar	rs606231128
google	rs606231128
pharmgkb	rs606231128
gwascentral	rs606231128
openSNP	rs606231128
23andMe	rs606231128
SNPshot	rs606231128
SNPdbe	rs606231128
MSV3d	rs606231128
GWAS Ctlg	rs606231128

Merged from

Rs764365793

Max Magnitude

5.5

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,