ClinVar Genomic variation as it relates to human health
NM_000103.4(CYP19A1):c.220dup (p.Cys74fs)
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 | |||
CYP19A1 | - | - |
GRCh38 GRCh37 |
15 | 521 | |
MIR4713HG | - | - | - | GRCh38 | - | 503 |
PIRC66 | - | - | - | GRCh38 | - | 503 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Pathogenic (1) |
|
Dec 26, 2023 | RCV003680225.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Feb 29, 2024