Annotation Detail
Information
- Associated Genes
- ELAC2
- Associated Variants
-
ELAC2 p.Glu622Gly (p.E622G)
(
ENST00000338034.9,
ENST00000395962.6,
ENST00000426905.7 )
ELAC2 p.Glu622Gly (p.E622G) ( ENST00000338034.9, ENST00000395962.6, ENST00000426905.7 ) - Associated Disease
- Combined oxidative phosphorylation defect type 17
- Source Database
- ClinVar
- Description
- NM_018127.7(ELAC2):c.1865A>G (p.Glu622Gly) AND Combined oxidative phosphorylation defect type 17
- ClinVar Allele ID
- 1473662
- ClinVar RefSeq Alternation Syntax
- NM_173717.2:c.1862A>G
- ClinVar RefSeq Alternation Syntax
- NM_018127.7:c.1865A>G
- ClinVar RefSeq Alternation Syntax
- NM_001165962.2:c.1745A>G
- Clinical Significance Description
- Uncertain significance
- Clinical Significance Last Update
- 2022-07-13
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV001904552
- ClinVar Disease
- Combined oxidative phosphorylation defect type 17
- Observed Origin Sample
- germline
Drugs