Annotation Detail
Information
- Associated Genes
- KCNE1
- Associated Variants
-
KCNE1 p.Thr58_Leu59delinsProPro (p.T58_L59delinsPP)
(
ENST00000337385.7,
ENST00000399284.1,
ENST00000399286.3,
ENST00000399289.7,
ENST00000416357.6,
ENST00000432085.5,
ENST00000611936.1,
ENST00000621601.4 )
KCNE1 p.Thr58_Leu59delinsProPro (p.T58_L59delinsPP) ( ENST00000337385.7, ENST00000399284.1, ENST00000399286.3, ENST00000399289.7, ENST00000416357.6, ENST00000432085.5, ENST00000611936.1, ENST00000621601.4 ) - Associated Disease
- Jervell and Lange-Nielsen syndrome 2
- Source Database
- ClinVar
- Description
- NG_009091.1(KCNE1):g.[66853A>C;66857T>C] AND Jervell and Lange-Nielsen syndrome 2
- ClinVar Allele ID
- 28514
- ClinVar RefSeq Alternation Syntax
- NM_000219.6:c.172_177delinsCCCCCT
- ClinVar RefSeq Alternation Syntax
- NM_001270404.3:c.172_177delinsCCCCCT
- ClinVar RefSeq Alternation Syntax
- NM_001270405.3:c.172_177delinsCCCCCT
- ClinVar RefSeq Alternation Syntax
- NM_001127668.4:c.172_177delinsCCCCCT
- ClinVar RefSeq Alternation Syntax
- NM_001127670.4:c.172_177delinsCCCCCT
- ClinVar RefSeq Alternation Syntax
- NM_001127669.4:c.172_177delinsCCCCCT
- ClinVar RefSeq Alternation Syntax
- NM_001270403.2:c.172_177delinsCCCCCT
- ClinVar RefSeq Alternation Syntax
- NM_001270402.3:c.172_177delinsCCCCCT
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 1997-11-01
- Clinical Significance Review Status
- no assertion criteria provided
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000014417
- ClinVar Disease
- Jervell and Lange-Nielsen syndrome 2
- Observed Origin Sample
- germline
- Pubmed
- 9328483
Drugs