rs28940889

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(C;C)	0	common in clinvar
(C;T)	3	Carrier of a (mild?) isovaleric acidemia mutation

Make rs28940889(T;T)

Reference

GRCh38 38.1/141

Chromosome

15

Position

40415454

Gene

IVD

is a	snp
is	mentioned by
dbSNP	rs28940889
dbSNP (classic)	rs28940889
ClinGen	rs28940889
ebi	rs28940889
HLI	rs28940889
Exac	rs28940889
Gnomad	rs28940889
Varsome	rs28940889
LitVar	rs28940889
Map	rs28940889
PheGenI	rs28940889
Biobank	rs28940889
1000 genomes	rs28940889
hgdp	rs28940889
ensembl	rs28940889
geneview	rs28940889
scholar	rs28940889
google	rs28940889
pharmgkb	rs28940889
gwascentral	rs28940889
openSNP	rs28940889
23andMe	rs28940889
SNPshot	rs28940889
SNPdbe	rs28940889
MSV3d	rs28940889
GWAS Ctlg	rs28940889

GMAF

0.0009183

Max Magnitude

3

aka c.941C>T (p.Ala314Val or A314V)

OMIM	607036
Desc	ISOVALERIC ACIDEMIA
Variant	0007
Related	also

ClinVar
Risk	rs28940889(T;T)
Alt	rs28940889(T;T)
Reference	Rs28940889(C;C)
Significance	Pathogenic
Disease	Isovaleryl-CoA dehydrogenase deficiency not provided
Variation	info
Gene	IVD
CLNDBN	Isovaleryl-CoA dehydrogenase deficiency not provided
Reversed	0
HGVS	NC_000015.9:g.40707653C>T
CLNSRC	HGMD OMIM Allelic Variant
CLNACC	RCV000003749.4, RCV000080003.7,