Annotation Detail
Information
- Associated Genes
- COL4A5
- Associated Variants
-
COL4A5 p.Gly624Asp (p.G624D)
(
ENST00000328300.11,
ENST00000361603.7,
ENST00000483338.1 )
COL4A5 p.Gly624Asp (p.G624D) ( ENST00000328300.11, ENST00000361603.7, ENST00000483338.1 ) - Associated Disease
- COL4A5-related disorder
- Source Database
- ClinVar
- Description
- NM_033380.3(COL4A5):c.1871G>A (p.Gly624Asp) AND COL4A5-related disorder
- ClinVar Allele ID
- 35796
- ClinVar RefSeq Alternation Syntax
- NM_000495.5:c.1871G>A
- ClinVar RefSeq Alternation Syntax
- NM_033380.3:c.1871G>A
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2024-01-19
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV003904857
- ClinVar Disease
- COL4A5-related disorder
- Observed Origin Sample
- germline
Drugs