Annotation Detail
Information
- Associated Genes
- TRPM4
- Associated Variants
-
TRPM4 p.Lys914Arg (p.K914R)
(
ENST00000252826.10,
ENST00000427978.6 )
TRPM4 p.Lys914Arg (p.K914R) ( ENST00000252826.10, ENST00000427978.6 ) - Associated Disease
- progressive familial heart block type IB
- Source Database
- ClinVar
- Description
- NM_017636.4(TRPM4):c.2741A>G (p.Lys914Arg) AND Progressive familial heart block type IB
- ClinVar Allele ID
- 44163
- ClinVar RefSeq Alternation Syntax
- NM_001321285.2:c.1679A>G
- ClinVar RefSeq Alternation Syntax
- NM_001195227.2:c.2306A>G
- ClinVar RefSeq Alternation Syntax
- NM_001321281.2:c.2396A>G
- ClinVar RefSeq Alternation Syntax
- NM_017636.4:c.2741A>G
- ClinVar RefSeq Alternation Syntax
- NM_001321283.2:c.2219A>G
- ClinVar RefSeq Alternation Syntax
- NM_001321282.2:c.1133A>G
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2012-01-01
- Clinical Significance Review Status
- no assertion criteria provided
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000029162
- ClinVar Disease
- Progressive familial heart block type IB
- Observed Origin Sample
- germline
- Pubmed
- 21887725
Drugs