Annotation Detail
Information
- Associated Genes
- COL4A3 MFF-DT
- Associated Variants
-
COL4A3 p.Ser1147Phe (p.S1147F)
(
ENST00000396578.8 )
COL4A3 p.Ser1147Phe (p.S1147F) ( ENST00000396578.8 ) - Associated Disease
- COL4A3-related disorder
- Source Database
- ClinVar
- Description
- NM_000091.5(COL4A3):c.3440C>T (p.Ser1147Phe) AND COL4A3-related disorder
- ClinVar Allele ID
- 620067
- ClinVar RefSeq Alternation Syntax
- NM_000091.5:c.3440C>T
- Clinical Significance Description
- Uncertain significance
- Clinical Significance Last Update
- 2017-10-12
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV004527791
- ClinVar Disease
- COL4A3-related disorder
- Observed Origin Sample
- germline
Drugs