Annotation Detail
Information
- Associated Genes
- TRPM4
- Associated Variants
-
TRPM4 p.Glu7Lys (p.E7K)
(
ENST00000252826.10,
ENST00000427978.6,
ENST00000599628.5 )
TRPM4 p.Glu7Lys (p.E7K) ( ENST00000252826.10, ENST00000427978.6, ENST00000599628.5 ) - Associated Disease
- progressive familial heart block type IB
- Source Database
- ClinVar
- Description
- NM_017636.4(TRPM4):c.19G>A (p.Glu7Lys) AND Progressive familial heart block type IB
- ClinVar Allele ID
- 18809
- ClinVar RefSeq Alternation Syntax
- NM_001321285.2:c.-311G>A
- ClinVar RefSeq Alternation Syntax
- NM_001321283.2:c.-148G>A
- ClinVar RefSeq Alternation Syntax
- NM_001321282.2:c.-1354G>A
- ClinVar RefSeq Alternation Syntax
- NM_001195227.2:c.19G>A
- ClinVar RefSeq Alternation Syntax
- NM_001321281.2:c.19G>A
- ClinVar RefSeq Alternation Syntax
- NM_017636.4:c.19G>A
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2009-09-01
- Clinical Significance Review Status
- no assertion criteria provided
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000003968
- ClinVar Disease
- Progressive familial heart block type IB
- Observed Origin Sample
- germline
- Pubmed
- 897853
- Pubmed
- 19726882
Drugs