rs121434367

Orientation

plus

Stabilized

plus

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

Reference

GRCh38 38.1/141

Chromosome

19

Position

12899486

Gene	GCDH, SYCE2

is a	snp
is	mentioned by
dbSNP	rs121434367
dbSNP (classic)	rs121434367
ClinGen	rs121434367
ebi	rs121434367
HLI	rs121434367
Exac	rs121434367
Gnomad	rs121434367
Varsome	rs121434367
LitVar	rs121434367
Map	rs121434367
PheGenI	rs121434367
Biobank	rs121434367
1000 genomes	rs121434367
hgdp	rs121434367
ensembl	rs121434367
geneview	rs121434367
scholar	rs121434367
google	rs121434367
pharmgkb	rs121434367
gwascentral	rs121434367
openSNP	rs121434367
23andMe	rs121434367
SNPshot	rs121434367
SNPdbe	rs121434367
MSV3d	rs121434367
GWAS Ctlg	rs121434367

Max Magnitude

7

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

OMIM	608801
Desc
Variant	0002
Related	also

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,