rs113994168

Orientation

plus

Stabilized

plus

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

Make rs113994168(T;T)

Reference

GRCh38 38.1/141

Chromosome

17

Position

7222203

Gene

ACADVL

is a	snp
is	mentioned by
dbSNP	rs113994168
dbSNP (classic)	rs113994168
ClinGen	rs113994168
ebi	rs113994168
HLI	rs113994168
Exac	rs113994168
Gnomad	rs113994168
Varsome	rs113994168
LitVar	rs113994168
Map	rs113994168
PheGenI	rs113994168
Biobank	rs113994168
1000 genomes	rs113994168
hgdp	rs113994168
ensembl	rs113994168
geneview	rs113994168
scholar	rs113994168
google	rs113994168
pharmgkb	rs113994168
gwascentral	rs113994168
openSNP	rs113994168
23andMe	rs113994168
SNPshot	rs113994168
SNPdbe	rs113994168
MSV3d	rs113994168
GWAS Ctlg	rs113994168

Max Magnitude

3

aka c.779C>T (p.Thr260Met or T260M)

ClinVar
Risk	rs113994168(T;T)
Alt	rs113994168(T;T)
Reference	Rs113994168(C;C)
Significance	Other
Disease	Very long chain acyl-CoA dehydrogenase deficiency not provided
Variation	info
Gene	ACADVL
CLNDBN	Very long chain acyl-CoA dehydrogenase deficiency not provided
Reversed	0
HGVS	NC_000017.10:g.7125522C>T
CLNSRC	UniProtKB (protein)
CLNACC	RCV000020080.3, RCV000429481.1,

OMIM	201475
Desc
Variant
Related	also