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rs140629318

From SNPedia

Orientationplus
Stabilizedplus
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)
ReferenceGRCh38.p2 38.2/146
Chromosome17
Position7221966
GeneACADVL, DLG4
is asnp
is mentioned by
dbSNPrs140629318
dbSNP (classic)rs140629318
ClinGenrs140629318
ebirs140629318
HLIrs140629318
Exacrs140629318
Gnomadrs140629318
Varsomers140629318
LitVarrs140629318
Maprs140629318
PheGenIrs140629318
Biobankrs140629318
1000 genomesrs140629318
hgdprs140629318
ensemblrs140629318
geneviewrs140629318
scholarrs140629318
googlers140629318
pharmgkbrs140629318
gwascentralrs140629318
openSNPrs140629318
23andMers140629318
23andMe allrs140629318
SNPshotrs140629318
SNPdbers140629318
MSV3drs140629318
GWAS Ctlgrs140629318
Max Magnitude3

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,