Annotation Detail
Information
- Associated Genes
- HRC TRPM4
- Associated Variants
-
TRPM4 p.Gly582Ser (p.G582S)
(
ENST00000252826.10,
ENST00000427978.6 )
TRPM4 p.Gly582Ser (p.G582S) ( ENST00000252826.10, ENST00000427978.6 ) - Associated Disease
- progressive familial heart block type IB
- Source Database
- ClinVar
- Description
- NM_017636.4(TRPM4):c.1744G>A (p.Gly582Ser) AND Progressive familial heart block type IB
- ClinVar Allele ID
- 44159
- ClinVar RefSeq Alternation Syntax
- NM_001321281.2:c.1399G>A
- ClinVar RefSeq Alternation Syntax
- NM_001321285.2:c.682G>A
- ClinVar RefSeq Alternation Syntax
- NM_001321282.2:c.136G>A
- ClinVar RefSeq Alternation Syntax
- NM_001321283.2:c.1222G>A
- ClinVar RefSeq Alternation Syntax
- NM_001195227.2:c.1744G>A
- ClinVar RefSeq Alternation Syntax
- NM_017636.4:c.1744G>A
- Clinical Significance Description
- Conflicting interpretations of pathogenicity
- Clinical Significance Last Update
- 2024-01-30
- Clinical Significance Review Status
- criteria provided, conflicting interpretations
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000029158
- ClinVar Disease
- Progressive familial heart block type IB
- Observed Origin Sample
- germline
- Pubmed
- 21887725
Drugs