rs25640

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(A;A)	1	benign polymorphism
(A;G)	1	benign polymorphism
(C;G)	3	Carrier of a mutation for D-bifunctional protein deficiency
(G;G)	0	common in clinvar

Reference

GRCh38 38.1/141

Chromosome

5

Position

119475838

Gene

HSD17B4

is a	snp
is	mentioned by
dbSNP	rs25640
dbSNP (classic)	rs25640
ClinGen	rs25640
ebi	rs25640
HLI	rs25640
Exac	rs25640
Gnomad	rs25640
Varsome	rs25640
LitVar	rs25640
Map	rs25640
PheGenI	rs25640
Biobank	rs25640
1000 genomes	rs25640
hgdp	rs25640
ensembl	rs25640
geneview	rs25640
scholar	rs25640
google	rs25640
pharmgkb	rs25640
gwascentral	rs25640
openSNP	rs25640
23andMe	rs25640
SNPshot	rs25640
SNPdbe	rs25640
MSV3d	rs25640
GWAS Ctlg	rs25640

GMAF

0.3994

Max Magnitude

3

aka c.317G>C (p.Arg106Pro), but also c.317G>A (p.Arg106His)

c.316G>C is a mutation pathogenic (when inherited recessively) for D-bifunctional protein deficiency; c.316G>A is a benign polymorphism

?	(A;A) (A;G) (G;G)	28

OMIM	601860
Desc
Variant	0005
Related	also

ClinVar
Risk	Rs25640(A;A) rs25640(C;C)
Alt	Rs25640(A;A) rs25640(C;C)
Reference	Rs25640(G;G)
Significance	Pathogenic
Disease	not specified Perrault Syndrome Bifunctional peroxisomal enzyme deficiency
Variation	info
Gene	HSD17B4
CLNDBN	not specified Perrault Syndrome Bifunctional peroxisomal enzyme deficiency
Reversed	0
HGVS	NC_000005.9:g.118811533G>A; NC_000005.9:g.118811533G>C
CLNSRC	UniProtKB (protein) OMIM Allelic Variant
CLNACC	RCV000179310.3, RCV000362861.1, RCV000391832.1, RCV000008096.2,