Annotation Detail
Information
- Associated Genes
- HRC TRPM4
- Associated Variants
-
TRPM4 p.Ala432Thr (p.A432T)
(
ENST00000252826.10,
ENST00000427978.6 )
TRPM4 p.Ala432Thr (p.A432T) ( ENST00000252826.10, ENST00000427978.6 ) - Source Database
- ClinVar
- Description
- NM_017636.4(TRPM4):c.1294G>A (p.Ala432Thr) AND Cardiovascular phenotype
- ClinVar Allele ID
- 44160
- ClinVar RefSeq Alternation Syntax
- NM_017636.4:c.1294G>A
- ClinVar RefSeq Alternation Syntax
- NM_001195227.2:c.1294G>A
- ClinVar RefSeq Alternation Syntax
- NM_001321281.2:c.949G>A
- ClinVar RefSeq Alternation Syntax
- NM_001321282.2:c.-260G>A
- ClinVar RefSeq Alternation Syntax
- NM_001321283.2:c.772G>A
- ClinVar RefSeq Alternation Syntax
- NM_001321285.2:c.232G>A
- Clinical Significance Description
- Benign
- Clinical Significance Last Update
- 2018-12-03
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV002381261
- Observed Origin Sample
- germline
Drugs