ClinVar Genomic variation as it relates to human health
NM_016292.3(TRAP1):c.1915C>T (p.Gln639Ter)
Germline
Classification
(1)
Pathogenic
no assertion criteria provided
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 | |||
DNASE1 | No evidence available | No evidence available |
GRCh38 GRCh37 |
44 | 231 | |
TRAP1 | - | - |
GRCh38 GRCh37 |
211 | 425 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Pathogenic (1) |
|
Jun 6, 2023 | RCV003235001.8 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Sep 01, 2024