ClinVar Genomic variation as it relates to human health
NM_017545.3(HAO1):c.493G>T (p.Gly165Cys)
Germline
Classification
(1)
Pathogenic
criteria provided, single submitter
Somatic
No data submitted for somatic clinical impact
Somatic
No data submitted for oncogenicity
Genes
Gene | OMIM | ClinGen Gene Dosage Sensitivity Curation | Variation Viewer | Related variants | ||
---|---|---|---|---|---|---|
HI score | TS score | Within gene | All | |||
HAO1 | - | - |
GRCh38 GRCh37 |
37 | 91 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
glycolate oxidase deficiency
|
Pathogenic (1) |
|
Nov 20, 2023 | RCV003459941.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Dec 30, 2023