Annotation Detail
Information
- Associated Genes
- DNAJC30 LOC129998603
- Associated Variants
-
DNAJC30 p.Tyr51Cys (p.Y51C)
(
ENST00000395176.3 )
DNAJC30 p.Tyr51Cys (p.Y51C) ( ENST00000395176.3 ) - Associated Disease
- Leber hereditary optic neuropathy, autosomal recessive
- Source Database
- ClinVar
- Description
- NM_032317.3(DNAJC30):c.152A>G (p.Tyr51Cys) AND Leber hereditary optic neuropathy, autosomal recessive
- ClinVar Allele ID
- 964835
- ClinVar RefSeq Alternation Syntax
- NM_032317.3:c.152A>G
- Clinical Significance Description
- Pathogenic/Likely pathogenic
- Clinical Significance Last Update
- 2023-07-10
- Clinical Significance Review Status
- criteria provided, multiple submitters, no conflicts
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV001523899
- ClinVar Disease
- Leber hereditary optic neuropathy, autosomal recessive
- Observed Origin Sample
- germline
- Observed Origin Sample
- unknown
- Pubmed
- 35148383
- Pubmed
- 35861300
- Pubmed
- 35091433
- Pubmed
- 33465056
- Pubmed
- 37579815
Drugs