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rs121434367

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
(C;T) 3 Carrier of a glutaric acidemia type I mutation
(T;T) 7 glutaric acidemia type I
ReferenceGRCh38 38.1/141
Chromosome19
Position12899486
GeneGCDH, SYCE2
is asnp
is mentioned by
dbSNPrs121434367
dbSNP (classic)rs121434367
ClinGenrs121434367
ebirs121434367
HLIrs121434367
Exacrs121434367
Gnomadrs121434367
Varsomers121434367
LitVarrs121434367
Maprs121434367
PheGenIrs121434367
Biobankrs121434367
1000 genomesrs121434367
hgdprs121434367
ensemblrs121434367
geneviewrs121434367
scholarrs121434367
googlers121434367
pharmgkbrs121434367
gwascentralrs121434367
openSNPrs121434367
23andMers121434367
23andMe allrs121434367
SNPshotrs121434367
SNPdbers121434367
MSV3drs121434367
GWAS Ctlgrs121434367
Max Magnitude7

aka c.1262C>T (p.Ala421Val or A421V); may be referred to as the Amish GA1 mutation

OMIM608801
Desc
Variant0002
Relatedalso
ClinVar
Risk Rs121434367(T;T)
Alt Rs121434367(T;T)
Reference Rs121434367(C;C)
Significance Pathogenic
Disease Glutaric aciduria not provided Glutaric acidemia
Variation info
Gene SYCE2 GCDH
CLNDBN Glutaric aciduria, type 1 not provided Glutaric acidemia
Reversed 0
HGVS NC_000019.9:g.13010300C>T
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000002163.2, RCV000224804.1, RCV000294332.1,