Annotation Detail
Information
- Associated Genes
- SDHA
- Associated Variants
-
ENSG00000286001 p.Tyr301Cys (p.Y301C), SDHA p.Tyr301Cys (p.Y301C)
(
ENST00000264932.11,
ENST00000504309.5,
ENST00000510361.5 )
ENSG00000286001 p.Tyr301Cys (p.Y301C), SDHA p.Tyr301Cys (p.Y301C) ( ENST00000264932.11, ENST00000504309.5, ENST00000510361.5 ) - Associated Disease
- Paragangliomas 5 Mitochondrial complex II deficiency, nuclear type 1
- Source Database
- ClinVar
- Description
- NM_004168.4(SDHA):c.902A>G (p.Tyr301Cys) AND multiple conditions
- ClinVar Allele ID
- 563125
- ClinVar RefSeq Alternation Syntax
- NM_001294332.2:c.758A>G
- ClinVar RefSeq Alternation Syntax
- NM_001330758.2:c.902A>G
- ClinVar RefSeq Alternation Syntax
- NM_004168.4:c.902A>G
- Clinical Significance Description
- Uncertain significance
- Clinical Significance Last Update
- 2024-01-26
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000701878
- ClinVar Disease
- Mitochondrial complex II deficiency, nuclear type 1
- ClinVar Disease
- Paragangliomas 5
- Observed Origin Sample
- germline
Drugs