Annotation Detail
Information
- Associated Genes
- ZNF469
- Associated Variants
-
ZNF469 p.Glu2611Lys (p.E2611K)
(
ENST00000565624.3,
ENST00000437464.1 )
ZNF469 p.Glu2611Lys (p.E2611K) ( ENST00000437464.1, ENST00000565624.3 ) - Associated Disease
- Keratoconus 1
- Source Database
- ClinVar
- Description
- NM_001367624.2(ZNF469):c.7831G>A (p.Glu2611Lys) AND Keratoconus 1
- ClinVar Allele ID
- 132458
- ClinVar RefSeq Alternation Syntax
- NM_001367624.2:c.7831G>A
- Clinical Significance Description
- Likely pathogenic
- Clinical Significance Review Status
- no assertion criteria provided
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000114801
- ClinVar Disease
- Keratoconus 1
- Observed Origin Sample
- germline
Drugs