Annotation Detail
Information
- Associated Genes
- TRPM4
- Associated Variants
-
TRPM4 p.Gln293Arg (p.Q293R)
(
ENST00000252826.10,
ENST00000427978.6 )
TRPM4 p.Ala432Thr (p.A432T) ( ENST00000252826.10, ENST00000427978.6 )
TRPM4 p.Gly582Ser (p.G582S) ( ENST00000252826.10, ENST00000427978.6 )
TRPM4 p.Gly844Asp (p.G844D) ( ENST00000252826.10, ENST00000427978.6 )
TRPM4 p.Gly844Val (p.G844V) ( ENST00000252826.10, ENST00000427978.6 )
TRPM4 p.Gln293Arg (p.Q293R) ( ENST00000427978.6, ENST00000252826.10 )
TRPM4 p.Ala432Thr (p.A432T) ( ENST00000252826.10, ENST00000427978.6 )
TRPM4 p.Gly582Ser (p.G582S) ( ENST00000252826.10, ENST00000427978.6 )
TRPM4 p.Gly844Asp (p.G844D) ( ENST00000252826.10, ENST00000427978.6 )
TRPM4 p.Gly844Val (p.G844V) ( ENST00000252826.10, ENST00000427978.6 ) - Associated Disease
- Progressive Familial Heart Block, Type Ib
- Source Database
- DisGeNET
- Description
- Mutational spectrum in the Ca(2+)--activated cation channel gene TRPM4 in patients with cardiac conductance disturbances.
- Pubmed
- 21887725
- Original source reporting the Gene Disease association
- UNIPROT
- DisGENET score for the Gene Disease association
- 0.36
- Year of publication
- 2012
Drugs