Annotation Detail
Information
- Associated Genes
- KCNQ1
- Associated Variants
-
KCNQ1 p.Gln544ValfsTer108 (p.Q544Vfs*108)
(
ENST00000713725.1,
ENST00000646564.2,
ENST00000335475.6,
ENST00000155840.12,
ENST00000496887.7 )
KCNQ1 p.Gln544ValfsTer108 (p.Q544Vfs*108) ( ENST00000155840.12, ENST00000335475.6, ENST00000496887.7, ENST00000646564.2, ENST00000713725.1 ) - Associated Disease
- Jervell and Lange-Nielsen syndrome 1
- Source Database
- ClinVar
- Description
- NM_000218.3(KCNQ1):c.1630_1635delinsGTTGAGA (p.Gln544fs) AND Jervell and Lange-Nielsen syndrome 1
- ClinVar Allele ID
- 67667
- ClinVar RefSeq Alternation Syntax
- NM_001406836.1:c.1534_1539delCAGTACinsGTTGAGA
- ClinVar RefSeq Alternation Syntax
- NM_001406837.1:c.1360_1365delCAGTACinsGTTGAGA
- ClinVar RefSeq Alternation Syntax
- NM_181798.2:c.1249_1254delCAGTACinsGTTGAGA
- ClinVar RefSeq Alternation Syntax
- NM_000218.3:c.1630_1635delinsGTTGAGA
- ClinVar RefSeq Alternation Syntax
- NM_001406838.1:c.1090_1095delCAGTACinsGTTGAGA
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 1997-02-01
- Clinical Significance Review Status
- no assertion criteria provided
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000003272
- ClinVar Disease
- Jervell and Lange-Nielsen syndrome 1
- Observed Origin Sample
- germline
- Pubmed
- 9020846
Drugs