Annotation Detail
Information
- Associated Genes
- ZNF469
- Associated Variants
-
ZNF469 p.Gly2999Val (p.G2999V)
(
ENST00000437464.1,
ENST00000565624.3 )
ZNF469 p.Gly2999Val (p.G2999V) ( ENST00000437464.1, ENST00000565624.3 ) - Associated Disease
- brittle cornea syndrome 1
- Source Database
- ClinVar
- Description
- NM_001367624.2(ZNF469):c.8996G>T (p.Gly2999Val) AND Brittle cornea syndrome 1
- ClinVar Allele ID
- 132445
- ClinVar RefSeq Alternation Syntax
- NM_001367624.2:c.8996G>T
- Clinical Significance Description
- Uncertain significance
- Clinical Significance Last Update
- 2021-02-12
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV001836730
- ClinVar Disease
- Brittle cornea syndrome 1
- Observed Origin Sample
- inherited
Drugs