Annotation Detail
Information
- Associated Genes
- KCNQ1
- Associated Variants
-
KCNQ1 p.Arg195Trp (p.R195W)
(
ENST00000335475.6,
ENST00000646564.2,
ENST00000713725.1,
ENST00000155840.12,
ENST00000496887.7 )
KCNQ1 p.Arg195Trp (p.R195W) ( ENST00000155840.12, ENST00000335475.6, ENST00000496887.7, ENST00000646564.2, ENST00000713725.1 ) - Associated Disease
- Atrial fibrillation, familial, 3 Beckwith-Wiedemann syndrome Jervell and Lange-Nielsen syndrome 1 long QT syndrome 1 Short QT syndrome type 2
- Source Database
- ClinVar
- Description
- NM_000218.3(KCNQ1):c.583C>T (p.Arg195Trp) AND multiple conditions
- ClinVar Allele ID
- 77983
- ClinVar RefSeq Alternation Syntax
- NM_181798.2:c.202C>T
- ClinVar RefSeq Alternation Syntax
- NM_000218.3:c.583C>T
- ClinVar RefSeq Alternation Syntax
- NM_001406836.1:c.583C>T
- ClinVar RefSeq Alternation Syntax
- NM_001406837.1:c.313C>T
- Clinical Significance Description
- Uncertain significance
- Clinical Significance Last Update
- 2021-12-23
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV002483094
- ClinVar Disease
- Beckwith-Wiedemann syndrome
- ClinVar Disease
- Long QT syndrome 1
- ClinVar Disease
- Jervell and Lange-Nielsen syndrome 1
- ClinVar Disease
- Atrial fibrillation, familial, 3
- ClinVar Disease
- Short QT syndrome type 2
- Observed Origin Sample
- unknown
Drugs