Annotation Detail
Information
- Associated Genes
- KCNH2
- Associated Variants
-
KCNH2 p.Glu229Ter (p.E229*)
(
ENST00000262186.10,
ENST00000713701.1,
ENST00000713710.1 )
KCNH2 p.Glu229Ter (p.E229*) ( ENST00000262186.10, ENST00000713701.1, ENST00000713710.1 ) - Associated Disease
- not provided
- Source Database
- ClinVar
- Description
- NM_000238.4(KCNH2):c.685G>T (p.Glu229Ter) AND not provided
- ClinVar Allele ID
- 178578
- ClinVar RefSeq Alternation Syntax
- NM_172056.3:c.685G>T
- ClinVar RefSeq Alternation Syntax
- NM_000238.4:c.685G>T
- ClinVar RefSeq Alternation Syntax
- NM_001406757.1:c.385G>T
- ClinVar RefSeq Alternation Syntax
- NM_001406753.1:c.397G>T
- ClinVar RefSeq Alternation Syntax
- NM_001406756.1:c.397G>T
- ClinVar RefSeq Alternation Syntax
- NM_001406755.1:c.508G>T
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2016-09-09
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000412861
- ClinVar Disease
- not provided
- Observed Origin Sample
- germline
Drugs