rs80338929

Orientation

minus

Stabilized

minus

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

Make rs80338929(-;-)

Make rs80338929(-;AG)

Reference

GRCh38 38.1/141

Chromosome

5

Position

149027240

Gene

SH3TC2

is a	snp
is	mentioned by
dbSNP	rs80338929
dbSNP (classic)	rs80338929
ClinGen	rs80338929
ebi	rs80338929
HLI	rs80338929
Exac	rs80338929
Gnomad	rs80338929
Varsome	rs80338929
LitVar	rs80338929
Map	rs80338929
PheGenI	rs80338929
Biobank	rs80338929
1000 genomes	rs80338929
hgdp	rs80338929
ensembl	rs80338929
geneview	rs80338929
scholar	rs80338929
google	rs80338929
pharmgkb	rs80338929
gwascentral	rs80338929
openSNP	rs80338929
23andMe	rs80338929
SNPshot	rs80338929
SNPdbe	rs80338929
MSV3d	rs80338929
GWAS Ctlg	rs80338929

Max Magnitude

0

ClinVar
Risk	rs80338929(-;-)
Alt	rs80338929(-;-)
Reference	Rs80338929(AG;AG)
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.148406803_148406804delCT
CLNSRC	ClinVar GeneReviews
CLNACC	RCV000020892.1,

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