ClinVar Genomic variation as it relates to human health
NM_000498.3(CYP11B2):c.788T>A (p.Ile263Asn)
Germline
Classification
(2)
Pathogenic
criteria provided, multiple submitters, no conflicts
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 | |||
CYP11B2 | - | - |
GRCh38 GRCh37 |
19 | 737 | |
LOC106799834 | - | - | - | GRCh38 | - | 674 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Pathogenic (1) |
|
Sep 15, 2023 | RCV003062184.3 | |
CYP11B2-related disorder
|
Pathogenic (1) |
|
Nov 20, 2023 | RCV003459719.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Sep 29, 2024