Annotation Detail
Information
- Associated Genes
- KCNQ1
- Associated Variants
-
KCNQ1 p.Arg518Pro (p.R518P)
(
ENST00000155840.12,
ENST00000496887.7,
ENST00000335475.6,
ENST00000646564.2,
ENST00000713725.1 )
KCNQ1 p.Arg518Pro (p.R518P) ( 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.1553G>C (p.Arg518Pro) AND Congenital long QT syndrome
- ClinVar Allele ID
- 67660
- ClinVar RefSeq Alternation Syntax
- NM_001406837.1:c.1283G>C
- ClinVar RefSeq Alternation Syntax
- NM_001406836.1:c.1457G>C
- ClinVar RefSeq Alternation Syntax
- NM_000218.3:c.1553G>C
- ClinVar RefSeq Alternation Syntax
- NM_001406838.1:c.1013G>C
- ClinVar RefSeq Alternation Syntax
- NM_181798.2:c.1172G>C
- Clinical Significance Description
- not provided
- Clinical Significance Review Status
- no assertion provided
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000057594
- ClinVar Disease
- Congenital long QT syndrome
- Observed Origin Sample
- germline
Drugs