rs80338936

Orientation

minus

Stabilized

minus

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

Make rs80338936(-;-)

Make rs80338936(-;C)

Reference

GRCh38 38.1/141

Chromosome

5

Position

149008988

Gene

SH3TC2

is a	snp
is	mentioned by
dbSNP	rs80338936
dbSNP (classic)	rs80338936
ClinGen	rs80338936
ebi	rs80338936
HLI	rs80338936
Exac	rs80338936
Gnomad	rs80338936
Varsome	rs80338936
LitVar	rs80338936
Map	rs80338936
PheGenI	rs80338936
Biobank	rs80338936
1000 genomes	rs80338936
hgdp	rs80338936
ensembl	rs80338936
geneview	rs80338936
scholar	rs80338936
google	rs80338936
pharmgkb	rs80338936
gwascentral	rs80338936
openSNP	rs80338936
23andMe	rs80338936
SNPshot	rs80338936
SNPdbe	rs80338936
MSV3d	rs80338936
GWAS Ctlg	rs80338936

Max Magnitude

0

ClinVar
Risk	rs80338936(-;-)
Alt	rs80338936(-;-)
Reference	Rs80338936(C;C)
Significance	Pathogenic
Disease	Charcot-Marie-Tooth disease
Variation	info
Gene	SH3TC2
CLNDBN	Charcot-Marie-Tooth disease, type 4C
Reversed	1
HGVS	NC_000005.9:g.148388551delG
CLNSRC	ClinVar GeneReviews
CLNACC	RCV000020897.1,

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