Annotation Detail
Information
- Associated Genes
- KCNH2
- Associated Variants
-
KCNH2 p.Trp1001Ter (p.W1001*)
(
ENST00000262186.10,
ENST00000330883.9,
ENST00000713701.1,
ENST00000713710.1 )
KCNH2 p.Trp1001Ter (p.W1001*) ( ENST00000262186.10, ENST00000330883.9, ENST00000713701.1, ENST00000713710.1 ) - Associated Disease
- not provided
- Source Database
- ClinVar
- Description
- NM_000238.4(KCNH2):c.3003G>A (p.Trp1001Ter) AND not provided
- ClinVar Allele ID
- 29470
- ClinVar RefSeq Alternation Syntax
- NM_172057.3:c.1983G>A
- ClinVar RefSeq Alternation Syntax
- NR_176254.1:n.3224G>A
- ClinVar RefSeq Alternation Syntax
- NM_000238.4:c.3003G>A
- ClinVar RefSeq Alternation Syntax
- NR_176255.1:n.2097G>A
- ClinVar RefSeq Alternation Syntax
- NM_001406753.1:c.2715G>A
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2019-06-13
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000181905
- ClinVar Disease
- not provided
- Observed Origin Sample
- germline
Drugs