Annotation Detail
Information
- Associated Genes
- KCNH2
- Associated Variants
-
KCNH2 p.Gly572Ser (p.G572S)
(
ENST00000262186.10,
ENST00000330883.9,
ENST00000713701.1,
ENST00000713710.1 )
KCNH2 p.Gly572Ser (p.G572S) ( ENST00000262186.10, ENST00000330883.9, ENST00000713701.1, ENST00000713710.1 ) - Source Database
- ClinVar
- Description
- NM_000238.4(KCNH2):c.1714G>A (p.Gly572Ser) AND Cardiovascular phenotype
- ClinVar Allele ID
- 78144
- ClinVar RefSeq Alternation Syntax
- NM_000238.4:c.1714G>A
- ClinVar RefSeq Alternation Syntax
- NM_001204798.2:c.694G>A
- ClinVar RefSeq Alternation Syntax
- NM_001406756.1:c.1426G>A
- ClinVar RefSeq Alternation Syntax
- NM_172057.3:c.694G>A
- ClinVar RefSeq Alternation Syntax
- NM_001406753.1:c.1426G>A
- ClinVar RefSeq Alternation Syntax
- NM_172056.3:c.1714G>A
- ClinVar RefSeq Alternation Syntax
- NM_001406755.1:c.1537G>A
- ClinVar RefSeq Alternation Syntax
- NM_001406757.1:c.1414G>A
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2022-11-21
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000619615
- Observed Origin Sample
- germline
Drugs