Annotation Detail
Information
- Associated Genes
- KCNE1
- Associated Variants
-
KCNE1 p.Ser74Leu (p.S74L)
(
ENST00000337385.7,
ENST00000399284.1,
ENST00000399286.3,
ENST00000399289.7,
ENST00000416357.6,
ENST00000432085.5,
ENST00000611936.1,
ENST00000621601.4 )
KCNE1 p.Ser74Leu (p.S74L) ( ENST00000337385.7, ENST00000399284.1, ENST00000399286.3, ENST00000399289.7, ENST00000416357.6, ENST00000432085.5, ENST00000611936.1, ENST00000621601.4 ) - Associated Disease
- long QT syndrome
- Source Database
- ClinVar
- Description
- NM_000219.6(KCNE1):c.221C>T (p.Ser74Leu) AND Long QT syndrome
- ClinVar Allele ID
- 28517
- ClinVar RefSeq Alternation Syntax
- NM_001270403.2:c.221C>T
- ClinVar RefSeq Alternation Syntax
- NM_001127668.4:c.221C>T
- ClinVar RefSeq Alternation Syntax
- NM_001270404.3:c.221C>T
- ClinVar RefSeq Alternation Syntax
- NM_000219.6:c.221C>T
- ClinVar RefSeq Alternation Syntax
- NM_001127669.4:c.221C>T
- ClinVar RefSeq Alternation Syntax
- NM_001270402.3:c.221C>T
- ClinVar RefSeq Alternation Syntax
- NM_001270405.3:c.221C>T
- ClinVar RefSeq Alternation Syntax
- NM_001127670.4:c.221C>T
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2023-10-28
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000471661
- ClinVar Disease
- Long QT syndrome
- Observed Origin Sample
- germline
Drugs