Annotation Detail
Information
- Associated Genes
- KCNH2
- Associated Variants
-
KCNH2 p.Ile593Lys (p.I593K)
(
ENST00000262186.10,
ENST00000330883.9,
ENST00000713701.1,
ENST00000713710.1 )
KCNH2 p.Ile593Lys (p.I593K) ( ENST00000262186.10, ENST00000330883.9, ENST00000713701.1, ENST00000713710.1 ) - Associated Disease
- Congenital long QT syndrome
- Source Database
- ClinVar
- Description
- NM_000238.4(KCNH2):c.1778T>A (p.Ile593Lys) AND Congenital long QT syndrome
- ClinVar Allele ID
- 78165
- ClinVar RefSeq Alternation Syntax
- NM_001406755.1:c.1601T>A
- ClinVar RefSeq Alternation Syntax
- NM_172057.3:c.758T>A
- ClinVar RefSeq Alternation Syntax
- NM_172056.3:c.1778T>A
- ClinVar RefSeq Alternation Syntax
- NM_001204798.2:c.758T>A
- ClinVar RefSeq Alternation Syntax
- NM_000238.4:c.1778T>A
- ClinVar RefSeq Alternation Syntax
- NM_001406753.1:c.1490T>A
- ClinVar RefSeq Alternation Syntax
- NM_001406756.1:c.1490T>A
- ClinVar RefSeq Alternation Syntax
- NM_001406757.1:c.1478T>A
- Clinical Significance Description
- not provided
- Clinical Significance Review Status
- no assertion provided
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000057984
- ClinVar Disease
- Congenital long QT syndrome
- Observed Origin Sample
- germline
Drugs