rs121964997
From SNPedia
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 |
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)
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, |