Annotation Detail
Information
- Associated Genes
- ZNF408
- Associated Variants
-
ZNF408 p.Arg541Cys (p.R541C)
(
ENST00000311764.3 )
ZNF408 p.Arg541Cys (p.R541C) ( ENST00000311764.3 ) - Associated Disease
- Retinal dystrophy
- Source Database
- ClinVar
- Description
- NM_024741.3(ZNF408):c.1621C>T (p.Arg541Cys) AND Retinal dystrophy
- ClinVar Allele ID
- 200711
- ClinVar RefSeq Alternation Syntax
- NM_001184751.2:c.1597C>T
- ClinVar RefSeq Alternation Syntax
- NM_024741.3:c.1621C>T
- Clinical Significance Description
- Likely pathogenic
- Clinical Significance Last Update
- 2018-08-01
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV001073959
- ClinVar Disease
- Retinal dystrophy
- Observed Origin Sample
- germline
Drugs