ClinVar Genomic variation as it relates to human health
NM_000777.5(CYP3A5):c.1040A>G (p.Tyr347Cys)
Germline
Classification
(1)
Uncertain significance
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 | |||
CYP3A5 | - | - |
GRCh38 GRCh37 |
- | 67 | |
ZSCAN25 | - | - | - |
GRCh38 GRCh37 |
36 | 133 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Uncertain significance (1) |
|
Oct 2, 2023 | RCV004370470.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Jul 29, 2024