Annotation Detail
Information
- Associated Genes
- SDHA
- Associated Variants
-
ENSG00000286001 p.? (p.?), SDHA p.? (p.?)
(
ENST00000510361.5,
ENST00000504309.5,
ENST00000264932.11 )
ENSG00000286001 p.? (p.?), SDHA p.? (p.?) ( ENST00000264932.11, ENST00000504309.5, ENST00000510361.5 ) - Associated Disease
- Hereditary cancer-predisposing syndrome
- Source Database
- ClinVar
- Description
- NM_004168.4(SDHA):c.2T>C (p.Met1Thr) AND Hereditary cancer-predisposing syndrome
- ClinVar Allele ID
- 394857
- ClinVar RefSeq Alternation Syntax
- NM_001330758.2:c.2T>C
- ClinVar RefSeq Alternation Syntax
- NM_004168.4:c.2T>C
- ClinVar RefSeq Alternation Syntax
- NM_001294332.2:c.2T>C
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2022-05-04
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV001017951
- ClinVar Disease
- Hereditary cancer-predisposing syndrome
- Observed Origin Sample
- germline
Drugs