Annotation Detail
Information
- Associated Genes
- TXN2
- Associated Variants
-
TXN2 c.387+30A>C
(
ENST00000216185.7,
ENST00000403313.5,
ENST00000416967.1 )
TXN2 c.387+30A>C ( ENST00000216185.7, ENST00000403313.5, ENST00000416967.1 ) - Associated Disease
- combined oxidative phosphorylation deficiency 29
- Source Database
- ClinVar
- Description
- NM_012473.4(TXN2):c.387+30A>C AND Combined oxidative phosphorylation deficiency 29
- ClinVar Allele ID
- 1272765
- ClinVar RefSeq Alternation Syntax
- NM_012473.4:c.387+30A>C
- Clinical Significance Description
- Benign
- Clinical Significance Last Update
- 2021-12-05
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV002243424
- ClinVar Disease
- Combined oxidative phosphorylation deficiency 29
- Observed Origin Sample
- germline
Drugs