Annotation Detail
Information
- Associated Genes
- ELAC2
- Associated Variants
-
ELAC2 p.Arg781His (p.R781H)
(
ENST00000338034.9,
ENST00000426905.7,
ENST00000395962.6 )
ELAC2 p.Arg781His (p.R781H) ( ENST00000338034.9, ENST00000395962.6, ENST00000426905.7 ) - Associated Disease
- Combined oxidative phosphorylation defect type 17
- Source Database
- ClinVar
- Description
- NM_018127.7(ELAC2):c.2342G>A (p.Arg781His) AND Combined oxidative phosphorylation defect type 17
- ClinVar Allele ID
- 20097
- ClinVar RefSeq Alternation Syntax
- NM_001165962.2:c.2222G>A
- ClinVar RefSeq Alternation Syntax
- NM_173717.2:c.2339G>A
- ClinVar RefSeq Alternation Syntax
- NM_018127.7:c.2342G>A
- Clinical Significance Description
- Conflicting interpretations of pathogenicity
- Clinical Significance Last Update
- 2024-01-25
- Clinical Significance Review Status
- criteria provided, conflicting interpretations
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000470586
- ClinVar Disease
- Combined oxidative phosphorylation defect type 17
- Observed Origin Sample
- germline
- Observed Origin Sample
- maternal
Drugs