rs773876739

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(C;C)	9	Pontocerebellar hypoplasia type 2D
(C;T)	3	Carrier of a Pontocerebellar hypoplasia type 2D mutation
(T;T)	0	common in clinvar

Reference

GRCh38.p2 38.2/144

Chromosome

4

Position

25123971

Gene

SEPSECS

is a	snp
is	mentioned by
dbSNP	rs773876739
dbSNP (classic)	rs773876739
ClinGen	rs773876739
ebi	rs773876739
HLI	rs773876739
Exac	rs773876739
Gnomad	rs773876739
Varsome	rs773876739
LitVar	rs773876739
Map	rs773876739
PheGenI	rs773876739
Biobank	rs773876739
1000 genomes	rs773876739
hgdp	rs773876739
ensembl	rs773876739
geneview	rs773876739
scholar	rs773876739
google	rs773876739
pharmgkb	rs773876739
gwascentral	rs773876739
openSNP	rs773876739
23andMe	rs773876739
SNPshot	rs773876739
SNPdbe	rs773876739
MSV3d	rs773876739
GWAS Ctlg	rs773876739

Max Magnitude

9

SEPSECS gene mutation, known as c.1466A>T, p.Asp489Val or D489V; considered pathogenic in ClinVar for Pontocerebellar hypoplasia type 2D

ClinVar
Risk	rs773876739(A;A) Rs773876739(C;C)
Alt	rs773876739(A;A) Rs773876739(C;C)
Reference	Rs773876739(T;T)
Significance	Pathogenic
Disease	Pontocerebellar hypoplasia type 2D
Variation	info
Gene	SEPSECS
CLNDBN	Pontocerebellar hypoplasia type 2D
Reversed	0
HGVS	NC_000004.11:g.25125593T>A
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000170363.3,