rs80338926

Orientation

minus

Stabilized

minus

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

Make rs80338926(C;T)

Make rs80338926(T;T)

Reference

GRCh38 38.1/141

Chromosome

5

Position

149027760

Gene

SH3TC2

is a	snp
is	mentioned by
dbSNP	rs80338926
dbSNP (classic)	rs80338926
ClinGen	rs80338926
ebi	rs80338926
HLI	rs80338926
Exac	rs80338926
Gnomad	rs80338926
Varsome	rs80338926
LitVar	rs80338926
Map	rs80338926
PheGenI	rs80338926
Biobank	rs80338926
1000 genomes	rs80338926
hgdp	rs80338926
ensembl	rs80338926
geneview	rs80338926
scholar	rs80338926
google	rs80338926
pharmgkb	rs80338926
gwascentral	rs80338926
openSNP	rs80338926
23andMe	rs80338926
SNPshot	rs80338926
SNPdbe	rs80338926
MSV3d	rs80338926
GWAS Ctlg	rs80338926

Max Magnitude

0

ClinVar
Risk	rs80338926(T;T)
Alt	rs80338926(T;T)
Reference	Rs80338926(C;C)
Significance	Pathogenic
Disease	Charcot-Marie-Tooth disease not provided
Variation	info
Gene	SH3TC2
CLNDBN	Charcot-Marie-Tooth disease, type 4C not provided
Reversed	1
HGVS	NC_000005.9:g.148407323G>A
CLNSRC	UniProtKB (protein)
CLNACC	RCV000020888.1, RCV000236498.1,

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