Annotation Detail
Information
- Associated Genes
- ELAC2
- Associated Variants
-
ELAC2 p.Ala541Thr (p.A541T)
(
ENST00000426905.7,
ENST00000395962.6,
ENST00000338034.9 )
ELAC2 p.Ala541Thr (p.A541T) ( ENST00000338034.9, ENST00000395962.6, ENST00000426905.7 ) - Associated Disease
- Combined oxidative phosphorylation defect type 17
- Source Database
- ClinVar
- Description
- NM_018127.7(ELAC2):c.1621G>A (p.Ala541Thr) AND Combined oxidative phosphorylation defect type 17
- ClinVar Allele ID
- 20095
- ClinVar RefSeq Alternation Syntax
- NM_001165962.2:c.1501G>A
- ClinVar RefSeq Alternation Syntax
- NM_018127.7:c.1621G>A
- ClinVar RefSeq Alternation Syntax
- NM_173717.2:c.1618G>A
- Clinical Significance Description
- Benign/Likely benign
- Clinical Significance Last Update
- 2024-02-01
- Clinical Significance Review Status
- criteria provided, multiple submitters, no conflicts
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000477360
- ClinVar Disease
- Combined oxidative phosphorylation defect type 17
- Observed Origin Sample
- germline
- Observed Origin Sample
- unknown
Drugs