rs267607035

Orientation

minus

Stabilized

minus

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

Reference

GRCh38 38.1/141

Chromosome

4

Position

25152049

Gene

SEPSECS

is a	snp
is	mentioned by
dbSNP	rs267607035
dbSNP (classic)	rs267607035
ClinGen	rs267607035
ebi	rs267607035
HLI	rs267607035
Exac	rs267607035
Gnomad	rs267607035
Varsome	rs267607035
LitVar	rs267607035
Map	rs267607035
PheGenI	rs267607035
Biobank	rs267607035
1000 genomes	rs267607035
hgdp	rs267607035
ensembl	rs267607035
geneview	rs267607035
scholar	rs267607035
google	rs267607035
pharmgkb	rs267607035
gwascentral	rs267607035
openSNP	rs267607035
23andMe	rs267607035
SNPshot	rs267607035
SNPdbe	rs267607035
MSV3d	rs267607035
GWAS Ctlg	rs267607035

Max Magnitude

9

SEPSECS gene mutation, known as c.715G>A, p.Ala239Thr or A239T; considered pathogenic in ClinVar for Pontocerebellar hypoplasia type 2D

ClinVar
Risk	Rs267607035(A;A)
Alt	Rs267607035(A;A)
Reference	Rs267607035(G;G)
Significance	Pathogenic
Disease	Pontocerebellar hypoplasia type 2D
Variation	info
Gene	SEPSECS
CLNDBN	Pontocerebellar hypoplasia type 2D
Reversed	1
HGVS	NC_000004.11:g.25153671C>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000000437.3,