Annotation Detail
Information
- Associated Genes
- TRPM4
- Associated Variants
-
TRPM4 p.Gln293Arg (p.Q293R)
(
ENST00000252826.10,
ENST00000427978.6 )
TRPM4 p.Gln293Arg (p.Q293R) ( ENST00000427978.6, ENST00000252826.10 ) - Source Database
- ClinVar
- Description
- NM_017636.4(TRPM4):c.878A>G (p.Gln293Arg) AND Cardiovascular phenotype
- ClinVar Allele ID
- 689118
- ClinVar RefSeq Alternation Syntax
- NM_001321282.2:c.-676A>G
- ClinVar RefSeq Alternation Syntax
- NM_001321285.2:c.29A>G
- ClinVar RefSeq Alternation Syntax
- NM_017636.4:c.878A>G
- ClinVar RefSeq Alternation Syntax
- NM_001195227.2:c.878A>G
- ClinVar RefSeq Alternation Syntax
- NM_001321281.2:c.533A>G
- ClinVar RefSeq Alternation Syntax
- NM_001321283.2:c.356A>G
- Clinical Significance Description
- Likely benign
- Clinical Significance Last Update
- 2020-04-14
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV002442820
- Observed Origin Sample
- germline
Drugs