Annotation Detail
Information
- Associated Genes
- KCNQ1
- Associated Variants
-
KCNQ1 p.Arg192CysfsTer91 (p.R192Cfs*91)
(
ENST00000496887.7,
ENST00000155840.12,
ENST00000713725.1,
ENST00000646564.2,
ENST00000335475.6 )
KCNQ1 p.Arg192CysfsTer91 (p.R192Cfs*91) ( ENST00000155840.12, ENST00000335475.6, ENST00000496887.7, ENST00000646564.2, ENST00000713725.1 ) - Associated Disease
- not provided
- Source Database
- ClinVar
- Description
- NM_000218.3(KCNQ1):c.573_577del (p.Arg192fs) AND not provided
- ClinVar Allele ID
- 67740
- ClinVar RefSeq Alternation Syntax
- NM_181798.2:c.192_196delGCGCT
- ClinVar RefSeq Alternation Syntax
- NM_000218.3:c.573_577del
- ClinVar RefSeq Alternation Syntax
- NM_001406836.1:c.573_577delGCGCT
- ClinVar RefSeq Alternation Syntax
- NM_001406837.1:c.303_307delGCGCT
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2023-01-17
- Clinical Significance Review Status
- criteria provided, multiple submitters, no conflicts
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000182268
- ClinVar Disease
- not provided
- Observed Origin Sample
- germline
Drugs