rs61732144

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(C;C)	0	common in clinvar
(C;T)	3	Carrier of a SCAD mutation

Make rs61732144(T;T)

Reference

GRCh38 38.1/141

Chromosome

12

Position

120737094

Gene

ACADS

is a	snp
is	mentioned by
dbSNP	rs61732144
dbSNP (classic)	rs61732144
ClinGen	rs61732144
ebi	rs61732144
HLI	rs61732144
Exac	rs61732144
Gnomad	rs61732144
Varsome	rs61732144
LitVar	rs61732144
Map	rs61732144
PheGenI	rs61732144
Biobank	rs61732144
1000 genomes	rs61732144
hgdp	rs61732144
ensembl	rs61732144
geneview	rs61732144
scholar	rs61732144
google	rs61732144
pharmgkb	rs61732144
gwascentral	rs61732144
openSNP	rs61732144
23andMe	rs61732144
SNPshot	rs61732144
SNPdbe	rs61732144
MSV3d	rs61732144
GWAS Ctlg	rs61732144

Max Magnitude

3

aka c.319C>T (p.Arg107Cys or R107C)

OMIM	606885
Desc
Variant	0002
Related	also

ClinVar
Risk	rs61732144(T;T)
Alt	rs61732144(T;T)
Reference	Rs61732144(C;C)
Significance	Pathogenic
Disease	Deficiency of butyryl-CoA dehydrogenase not provided
Variation	info
Gene	ACADS
CLNDBN	Deficiency of butyryl-CoA dehydrogenase not provided
Reversed	0
HGVS	NC_000012.11:g.121174897C>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000004030.6, RCV000185680.2,