rs121912708

Orientation

minus

Stabilized

minus

Geno	Mag	Summary
(C;C)	0	common in clinvar
(C;T)	3	Carrier of a pyridoxine-dependent epilepsy mutation

Make rs121912708(T;T)

Reference

GRCh38 38.1/141

Chromosome

5

Position

126583997

Gene

ALDH7A1

is a	snp
is	mentioned by
dbSNP	rs121912708
dbSNP (classic)	rs121912708
ClinGen	rs121912708
ebi	rs121912708
HLI	rs121912708
Exac	rs121912708
Gnomad	rs121912708
Varsome	rs121912708
LitVar	rs121912708
Map	rs121912708
PheGenI	rs121912708
Biobank	rs121912708
1000 genomes	rs121912708
hgdp	rs121912708
ensembl	rs121912708
geneview	rs121912708
scholar	rs121912708
google	rs121912708
pharmgkb	rs121912708
gwascentral	rs121912708
openSNP	rs121912708
23andMe	rs121912708
SNPshot	rs121912708
SNPdbe	rs121912708
MSV3d	rs121912708
GWAS Ctlg	rs121912708

Max Magnitude

3

aka c.328C>T (p.Arg110Ter)

OMIM	107323
Desc
Variant	0002
Related	also

ClinVar
Risk	rs121912708(G;G) rs121912708(T;T)
Alt	rs121912708(G;G) rs121912708(T;T)
Reference	Rs121912708(C;C)
Significance	Pathogenic
Disease	Pyridoxine-dependent epilepsy Seizures Ventriculomegaly not provided not specified
Variation	info
Gene	ALDH7A1
CLNDBN	Pyridoxine-dependent epilepsy Seizures Ventriculomegaly not provided not specified
Reversed	1
HGVS	NC_000005.9:g.125919689G>A; NC_000005.9:g.125919689G>C
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000019611.23, RCV000415171.1, RCV000480396.1, RCV000489779.1,