rs80338924

Orientation

minus

Stabilized

minus

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

Make rs80338924(-;-)

Make rs80338924(-;AG)

Reference

GRCh38 38.1/141

Chromosome

5

Position

149027984

Gene

SH3TC2

is a	snp
is	mentioned by
dbSNP	rs80338924
dbSNP (classic)	rs80338924
ClinGen	rs80338924
ebi	rs80338924
HLI	rs80338924
Exac	rs80338924
Gnomad	rs80338924
Varsome	rs80338924
LitVar	rs80338924
Map	rs80338924
PheGenI	rs80338924
Biobank	rs80338924
1000 genomes	rs80338924
hgdp	rs80338924
ensembl	rs80338924
geneview	rs80338924
scholar	rs80338924
google	rs80338924
pharmgkb	rs80338924
gwascentral	rs80338924
openSNP	rs80338924
23andMe	rs80338924
SNPshot	rs80338924
SNPdbe	rs80338924
MSV3d	rs80338924
GWAS Ctlg	rs80338924

Max Magnitude

0

OMIM	608206
Desc
Variant	0002
Related	also

ClinVar
Risk	rs80338924(-;-)
Alt	rs80338924(-;-)
Reference	Rs80338924(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.148407547_148407548delCT
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000002583.3,

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