Annotation Detail
Information
- Associated Genes
- KCNQ1
- Associated Variants
-
KCNQ1 p.Arg555Ser (p.R555S)
(
ENST00000496887.7,
ENST00000155840.12,
ENST00000713725.1,
ENST00000646564.2,
ENST00000335475.6 )
KCNQ1 p.Arg555Ser (p.R555S) ( ENST00000155840.12, ENST00000335475.6, ENST00000496887.7, ENST00000646564.2, ENST00000713725.1 ) - Associated Disease
- Cardiac arrhythmia
- Source Database
- ClinVar
- Description
- NM_000218.3(KCNQ1):c.1663C>A (p.Arg555Ser) AND Cardiac arrhythmia
- ClinVar Allele ID
- 77942
- ClinVar RefSeq Alternation Syntax
- NM_001406836.1:c.1567C>A
- ClinVar RefSeq Alternation Syntax
- NM_000218.3:c.1663C>A
- ClinVar RefSeq Alternation Syntax
- NM_001406837.1:c.1393C>A
- ClinVar RefSeq Alternation Syntax
- NM_001406838.1:c.1123C>A
- ClinVar RefSeq Alternation Syntax
- NM_181798.2:c.1282C>A
- Clinical Significance Description
- Likely pathogenic
- Clinical Significance Last Update
- 2023-09-07
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV003591657
- ClinVar Disease
- Cardiac arrhythmia
- Observed Origin Sample
- germline
Drugs