Annotation Detail
Information
- Associated Genes
- TRPM4
- Associated Variants
-
TRPM4 p.Glu7Lys (p.E7K)
(
ENST00000252826.10,
ENST00000427978.6,
ENST00000599628.5 )
TRPM4 p.Arg164Trp (p.R164W) ( 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.Lys914Arg (p.K914R) ( ENST00000252826.10, ENST00000427978.6 )
TRPM4 p.Glu7Lys (p.E7K) ( ENST00000252826.10, ENST00000427978.6, ENST00000599628.5 )
TRPM4 p.Arg164Trp (p.R164W) ( 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.Lys914Arg (p.K914R) ( ENST00000252826.10, ENST00000427978.6 ) - Associated Disease
- Progressive Familial Heart Block, Type Ib
- Source Database
- DisGeNET
- Description
- NA
- Original source reporting the Gene Disease association
- CLINVAR
- DisGENET score for the Gene Disease association
- 0.36
- Year of publication
- NA
Drugs