rs80338931

Orientation

minus

Stabilized

minus

Geno	Mag	Summary
(C;C)	0	common in clinvar

Make rs80338931(C;T)

Make rs80338931(T;T)

Reference

GRCh38 38.1/141

Chromosome

5

Position

149027022

Gene

SH3TC2

is a	snp
is	mentioned by
dbSNP	rs80338931
dbSNP (classic)	rs80338931
ClinGen	rs80338931
ebi	rs80338931
HLI	rs80338931
Exac	rs80338931
Gnomad	rs80338931
Varsome	rs80338931
LitVar	rs80338931
Map	rs80338931
PheGenI	rs80338931
Biobank	rs80338931
1000 genomes	rs80338931
hgdp	rs80338931
ensembl	rs80338931
geneview	rs80338931
scholar	rs80338931
google	rs80338931
pharmgkb	rs80338931
gwascentral	rs80338931
openSNP	rs80338931
23andMe	rs80338931
SNPshot	rs80338931
SNPdbe	rs80338931
MSV3d	rs80338931
GWAS Ctlg	rs80338931

Max Magnitude

0

ClinVar
Risk	rs80338931(T;T)
Alt	rs80338931(T;T)
Reference	Rs80338931(C;C)
Significance	Pathogenic
Disease	Charcot-Marie-Tooth disease Charcot-Marie-Tooth disease
Variation	info
Gene	SH3TC2
CLNDBN	Charcot-Marie-Tooth disease, type 4C Charcot-Marie-Tooth disease, type IV
Reversed	1
HGVS	NC_000005.9:g.148406585G>A
CLNSRC	ClinVar GeneReviews
CLNACC	RCV000020894.1, RCV000205920.2,

[PMID 14574644] Mutations in a gene encoding a novel SH3/TPR domain protein cause autosomal recessive Charcot-Marie-Tooth type 4C neuropathy.