Annotation Detail
Information
- Associated Genes
- COL4A3
- Associated Variants
-
COL4A3 p.Ser1147Phe (p.S1147F)
(
ENST00000396578.8 )
COL4A3 p.Ser1147Phe (p.S1147F) ( ENST00000396578.8 ) - Associated Disease
- Alport syndrome
- Source Database
- DisGeNET
- Description
- The application of this technology allowed us to identify the second mutation in two ATS patients (p.Ser1147Phe in COL4A3 and p.Arg1682Trp in COL4A4) and to reconsider the diagnosis of ATS in a third patient.
- Pubmed
- 21897443
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.011672000499453
- Year of publication
- 2012
Drugs