Annotation Detail
Information
- Associated Genes
- TRIT1
- Associated Variants
-
TRIT1 p.Tyr345Cys (p.Y345C)
(
ENST00000372818.5,
ENST00000316891.10,
ENST00000537440.5,
ENST00000541099.5,
ENST00000441669.6 )
TRIT1 p.Tyr345Cys (p.Y345C) ( ENST00000316891.10, ENST00000372818.5, ENST00000441669.6, ENST00000537440.5, ENST00000541099.5 ) - Associated Disease
- combined oxidative phosphorylation deficiency 35
- Source Database
- ClinVar
- Description
- NM_017646.6(TRIT1):c.1034A>G (p.Tyr345Cys) AND Combined oxidative phosphorylation deficiency 35
- ClinVar Allele ID
- 1671765
- ClinVar RefSeq Alternation Syntax
- NM_001312691.1:c.956A>G
- ClinVar RefSeq Alternation Syntax
- NM_017646.6:c.1034A>G
- ClinVar RefSeq Alternation Syntax
- NR_132413.1:n.222A>G
- ClinVar RefSeq Alternation Syntax
- NR_132408.1:n.664A>G
- ClinVar RefSeq Alternation Syntax
- NR_132406.1:n.791A>G
- ClinVar RefSeq Alternation Syntax
- NR_132410.1:n.551A>G
- ClinVar RefSeq Alternation Syntax
- NR_132401.1:n.1050A>G
- ClinVar RefSeq Alternation Syntax
- NR_132404.1:n.904A>G
- ClinVar RefSeq Alternation Syntax
- NM_001312692.1:c.788A>G
- ClinVar RefSeq Alternation Syntax
- NR_132409.1:n.525A>G
- ClinVar RefSeq Alternation Syntax
- NR_132402.1:n.908A>G
- ClinVar RefSeq Alternation Syntax
- NR_132415.1:n.1141A>G
- ClinVar RefSeq Alternation Syntax
- NR_132412.1:n.412A>G
- ClinVar RefSeq Alternation Syntax
- NR_132405.1:n.900A>G
- ClinVar RefSeq Alternation Syntax
- NR_132403.1:n.904A>G
- ClinVar RefSeq Alternation Syntax
- NR_132407.1:n.668A>G
- Clinical Significance Description
- Uncertain significance
- Clinical Significance Last Update
- 2022-05-04
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV002227864
- ClinVar Disease
- Combined oxidative phosphorylation deficiency 35
- Observed Origin Sample
- germline
Drugs