Annotation Detail
Information
- Associated Genes
- KCNH2
- Associated Variants
-
KCNH2 p.Asn861Thr (p.N861T)
(
ENST00000262186.10,
ENST00000330883.9,
ENST00000713701.1,
ENST00000713710.1 )
KCNH2 p.Asn861Thr (p.N861T) ( ENST00000262186.10, ENST00000330883.9, ENST00000713701.1, ENST00000713710.1 ) - Associated Disease
- Congenital long QT syndrome
- Source Database
- ClinVar
- Description
- NM_000238.4(KCNH2):c.2582A>C (p.Asn861Thr) AND Congenital long QT syndrome
- ClinVar Allele ID
- 78312
- ClinVar RefSeq Alternation Syntax
- NM_172057.3:c.1562A>C
- ClinVar RefSeq Alternation Syntax
- NM_000238.4:c.2582A>C
- Clinical Significance Description
- not provided
- Clinical Significance Review Status
- no assertion provided
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000058140
- ClinVar Disease
- Congenital long QT syndrome
- Observed Origin Sample
- germline
Drugs