Annotation Detail
Information
- Associated Genes
- COL4A1
- Associated Variants
-
COL4A1 p.Gln1334His (p.Q1334H)
(
ENST00000375820.10,
ENST00000615732.3,
ENST00000650424.2,
ENST00000714330.1 )
COL4A1 p.Gln1334His (p.Q1334H) ( ENST00000375820.10, ENST00000615732.3, ENST00000650424.2, ENST00000714330.1 ) - Associated Disease
- Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome
- Source Database
- ClinVar
- Description
- NM_001845.6(COL4A1):c.4002A>C (p.Gln1334His) AND Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome
- ClinVar Allele ID
- 194681
- ClinVar RefSeq Alternation Syntax
- NM_001845.6:c.4002A>C
- Clinical Significance Description
- Benign
- Clinical Significance Last Update
- 2021-07-22
- Clinical Significance Review Status
- criteria provided, multiple submitters, no conflicts
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000326846
- ClinVar Disease
- Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome
- Observed Origin Sample
- germline
Drugs