rs121964997

Orientation

minus

Stabilized

minus

Geno	Mag	Summary
(A;G)	3	Carrier of an HMG-CoA lyase deficiency mutation
(G;G)	0	common in clinvar

Make rs121964997(A;A)

Reference

GRCh38 38.1/141

Chromosome

1

Position

23820532

Gene

HMGCL

is a	snp
is	mentioned by
dbSNP	rs121964997
dbSNP (classic)	rs121964997
ClinGen	rs121964997
ebi	rs121964997
HLI	rs121964997
Exac	rs121964997
Gnomad	rs121964997
Varsome	rs121964997
LitVar	rs121964997
Map	rs121964997
PheGenI	rs121964997
Biobank	rs121964997
1000 genomes	rs121964997
hgdp	rs121964997
ensembl	rs121964997
geneview	rs121964997
scholar	rs121964997
google	rs121964997
pharmgkb	rs121964997
gwascentral	rs121964997
openSNP	rs121964997
23andMe	rs121964997
SNPshot	rs121964997
SNPdbe	rs121964997
MSV3d	rs121964997
GWAS Ctlg	rs121964997

Max Magnitude

3

aka c.122G>A (p.Arg41Gln or R41Q)

OMIM	246450
Desc
Variant	0004
Related	also

ClinVar
Risk	rs121964997(A;A)
Alt	rs121964997(A;A)
Reference	Rs121964997(G;G)
Significance	Pathogenic
Disease	Deficiency of hydroxymethylglutaryl-CoA lyase not provided
Variation	info
Gene	HMGCL
CLNDBN	Deficiency of hydroxymethylglutaryl-CoA lyase not provided
Reversed	1
HGVS	NC_000001.10:g.24147022C>T
CLNSRC	HGMD OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000012735.3, RCV000078342.4,