Annotation Detail
Information
- Associated Genes
- KCNQ1
- Associated Variants
-
KCNQ1 p.Arg190Leu (p.R190L)
(
ENST00000713725.1,
ENST00000646564.2,
ENST00000335475.6,
ENST00000496887.7,
ENST00000155840.12 )
KCNQ1 p.Arg190Leu (p.R190L) ( ENST00000155840.12, ENST00000335475.6, ENST00000496887.7, ENST00000646564.2, ENST00000713725.1 ) - Associated Disease
- Congenital long QT syndrome
- Source Database
- ClinVar
- Description
- NM_000218.3(KCNQ1):c.569G>T (p.Arg190Leu) AND Congenital long QT syndrome
- ClinVar Allele ID
- 77980
- ClinVar RefSeq Alternation Syntax
- NM_000218.3:c.569G>T
- ClinVar RefSeq Alternation Syntax
- NM_001406836.1:c.569G>T
- ClinVar RefSeq Alternation Syntax
- NM_181798.2:c.188G>T
- ClinVar RefSeq Alternation Syntax
- NM_001406837.1:c.299G>T
- Clinical Significance Description
- Likely pathogenic
- Clinical Significance Last Update
- 2019-03-22
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000057707
- ClinVar Disease
- Congenital long QT syndrome
- Observed Origin Sample
- germline
Drugs