rs140629318

plus

Geno	Mag	Summary
(A;G)	3	Carrier of a (likely) VLCAD mutation
(C;G)	3	Carrier of a (likely) VLCAD mutation
(G;G)	0	common in clinvar

Make rs140629318(C;C)

Reference

GRCh38.p2 38.2/146

Chromosome

17

Position

7221966

Gene	ACADVL, DLG4

is a	snp
is	mentioned by
dbSNP	rs140629318
dbSNP (classic)	rs140629318
ClinGen	rs140629318
ebi	rs140629318
HLI	rs140629318
Exac	rs140629318
Gnomad	rs140629318
Varsome	rs140629318
LitVar	rs140629318
Map	rs140629318
PheGenI	rs140629318
Biobank	rs140629318
1000 genomes	rs140629318
hgdp	rs140629318
ensembl	rs140629318
geneview	rs140629318
scholar	rs140629318
google	rs140629318
pharmgkb	rs140629318
gwascentral	rs140629318
openSNP	rs140629318
23andMe	rs140629318
SNPshot	rs140629318
SNPdbe	rs140629318
MSV3d	rs140629318
GWAS Ctlg	rs140629318

Max Magnitude

3

aka c.637G>A (p.Ala213Thr or A213T) as well as c.637G>C (p.Ala213Pro A213P)

While consensus in ClinVar and other databases leans toward both being pathogenic very long chain acyl-CoA dehydrogenase deficiency mutations, there is some uncertainty over this, and some submitters prefer to consider both as 'variants of uncertain significance'.

ClinVar
Risk	rs140629318(A;A) rs140629318(C;C)
Alt	rs140629318(A;A) rs140629318(C;C)
Reference	Rs140629318(G;G)
Significance	Other
Disease	Very long chain acyl-CoA dehydrogenase deficiency not specified
Variation	info
Gene	DLG4 ACADVL
CLNDBN	Very long chain acyl-CoA dehydrogenase deficiency not specified
Reversed	0
HGVS	NC_000017.10:g.7125285G>A; NC_000017.10:g.7125285G>C
CLNSRC	HGMD UniProtKB (protein)
CLNACC	RCV000180089.2, RCV000152737.4,