rs267607036

Orientation

minus

Stabilized

minus

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

Reference

GRCh38 38.1/141

Chromosome

4

Position

25144799

Gene

SEPSECS

is a	snp
is	mentioned by
dbSNP	rs267607036
dbSNP (classic)	rs267607036
ClinGen	rs267607036
ebi	rs267607036
HLI	rs267607036
Exac	rs267607036
Gnomad	rs267607036
Varsome	rs267607036
LitVar	rs267607036
Map	rs267607036
PheGenI	rs267607036
Biobank	rs267607036
1000 genomes	rs267607036
hgdp	rs267607036
ensembl	rs267607036
geneview	rs267607036
scholar	rs267607036
google	rs267607036
pharmgkb	rs267607036
gwascentral	rs267607036
openSNP	rs267607036
23andMe	rs267607036
SNPshot	rs267607036
SNPdbe	rs267607036
MSV3d	rs267607036
GWAS Ctlg	rs267607036

Max Magnitude

9

SEPSECS gene mutation, known as c.1001A>G, p.Tyr334Cys or Y334C; considered pathogenic in ClinVar for Pontocerebellar hypoplasia type 2D

ClinVar
Risk	Rs267607036(G;G)
Alt	Rs267607036(G;G)
Reference	Rs267607036(A;A)
Significance	Pathogenic
Disease	Pontocerebellar hypoplasia type 2D
Variation	info
Gene	SEPSECS
CLNDBN	Pontocerebellar hypoplasia type 2D
Reversed	1
HGVS	NC_000004.11:g.25146421T>C
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000000436.3,