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
- DNAJC30-associated disorder
- Source Database
- ClinVar
- Description
- NM_032317.3(DNAJC30):c.152A>G (p.Tyr51Cys) AND DNAJC30-associated disorder
- ClinVar Allele ID
- 964835
- ClinVar RefSeq Alternation Syntax
- NM_032317.3:c.152A>G
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2019-11-06
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV001254067
- ClinVar Disease
- DNAJC30-associated disorder
- Observed Origin Sample
- inherited
Drugs