Annotation Detail
Information
- Associated Genes
- KCNQ1
- Associated Variants
-
KCNQ1 p.Pro117Leu (p.P117L)
(
ENST00000155840.12,
ENST00000496887.7,
ENST00000646564.2,
ENST00000713725.1 )
KCNQ1 p.Pro117Leu (p.P117L) ( ENST00000155840.12, ENST00000496887.7, ENST00000646564.2, ENST00000713725.1 ) - Associated Disease
- long QT syndrome
- Source Database
- ClinVar
- Description
- NM_000218.3(KCNQ1):c.350C>T (p.Pro117Leu) AND Long QT syndrome
- ClinVar Allele ID
- 18180
- ClinVar RefSeq Alternation Syntax
- NM_000218.3:c.350C>T
- Clinical Significance Description
- Likely pathogenic
- Clinical Significance Last Update
- 2021-04-02
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV001349040
- ClinVar Disease
- Long QT syndrome
- Observed Origin Sample
- germline
Drugs