Annotation Detail
Information
- Associated Genes
- ZNF469
- Associated Variants
-
ZNF469 p.Ser2060Tyr (p.S2060Y)
(
ENST00000565624.3,
ENST00000437464.1 )
ZNF469 p.Ser2060Tyr (p.S2060Y) ( ENST00000437464.1, ENST00000565624.3 ) - Associated Disease
- keratoconus
- Source Database
- ClinVar
- Description
- NM_001367624.2(ZNF469):c.6179C>A (p.Ser2060Tyr) AND Keratoconus
- ClinVar Allele ID
- 132441
- ClinVar RefSeq Alternation Syntax
- NM_001367624.2:c.6179C>A
- Clinical Significance Description
- Uncertain significance
- Clinical Significance Last Update
- 2020-01-06
- Clinical Significance Review Status
- no assertion criteria provided
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000991180
- ClinVar Disease
- Keratoconus
- Observed Origin Sample
- germline
Drugs