Annotation Detail
Information
- Associated Genes
- TRPM4
- Associated Variants
-
TRPM4 p.Gly844Val (p.G844V)
(
ENST00000252826.10,
ENST00000427978.6 )
TRPM4 p.Gly844Val (p.G844V) ( ENST00000252826.10, ENST00000427978.6 ) - Associated Disease
- progressive familial heart block type IB
- Source Database
- ClinVar
- Description
- NM_017636.4(TRPM4):c.2531G>T (p.Gly844Val) AND Progressive familial heart block type IB
- ClinVar Allele ID
- 2873641
- ClinVar RefSeq Alternation Syntax
- NM_001321283.2:c.2009G>T
- ClinVar RefSeq Alternation Syntax
- NM_017636.4:c.2531G>T
- ClinVar RefSeq Alternation Syntax
- NM_001321281.2:c.2186G>T
- ClinVar RefSeq Alternation Syntax
- NM_001321282.2:c.923G>T
- ClinVar RefSeq Alternation Syntax
- NM_001321285.2:c.1469G>T
- ClinVar RefSeq Alternation Syntax
- NM_001195227.2:c.2211-3540G>T
- Clinical Significance Description
- Uncertain significance
- Clinical Significance Last Update
- 2023-09-08
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV003503949
- ClinVar Disease
- Progressive familial heart block type IB
- Observed Origin Sample
- germline
Drugs