Annotation Detail
Information
- Associated Genes
- ZNF469
- Associated Variants
-
ZNF469 p.Thr3307Ala (p.T3307A)
(
ENST00000437464.1,
ENST00000565624.3 )
ZNF469 p.Thr3307Ala (p.T3307A) ( ENST00000437464.1, ENST00000565624.3 ) - Associated Disease
- Keratoconus 1
- Source Database
- ClinVar
- Description
- NM_001367624.2(ZNF469):c.9919A>G (p.Thr3307Ala) AND Keratoconus 1
- ClinVar Allele ID
- 132448
- ClinVar RefSeq Alternation Syntax
- NM_001367624.2:c.9919A>G
- Clinical Significance Description
- Likely pathogenic
- Clinical Significance Review Status
- no assertion criteria provided
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000114791
- ClinVar Disease
- Keratoconus 1
- Observed Origin Sample
- germline
Drugs