Annotation Detail
Information
- Associated Genes
- ZNF469
- Associated Variants
-
ZNF469 p.Lys1040Thr (p.K1040T)
(
ENST00000437464.1,
ENST00000565624.3 )
ZNF469 p.Lys1040Thr (p.K1040T) ( ENST00000437464.1, ENST00000565624.3 ) - Associated Disease
- Keratoconus 1
- Source Database
- ClinVar
- Description
- NM_001367624.2(ZNF469):c.3119A>C (p.Lys1040Thr) AND Keratoconus 1
- ClinVar Allele ID
- 132437
- ClinVar RefSeq Alternation Syntax
- NM_001367624.2:c.3119A>C
- Clinical Significance Description
- Pathogenic
- Clinical Significance Review Status
- no assertion criteria provided
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000114780
- ClinVar Disease
- Keratoconus 1
- Observed Origin Sample
- germline
Drugs