Jervell And Lange-Nielsen Syndrome(Jervell-Lange Nielsen syndrome) Explore Disorder's Alias
An Autosomal recessive mode(s) within the Multisystemic disorders category
Candidate Gene Information
An Autosomal recessive mode(s) within the Multisystemic disorders category
Reported Pathogenic variants
S.No. | Name/GeneID | Description | Cytogentic Band | Gene Location on genomic DNA | Gene Length | Exons | Details | Gene Cross-References |
1 | KCNQ1/3784 | potassium voltage-gated channel subfamily Q member 1 | 11p15.5 | Chr11, NC_000011.10 (2445008..2849105) |
404098 nt | 19 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
2 | KCNE1/3753 | potassium voltage-gated channel subfamily E regulatory subunit 1 | 21q22.12 | Chr21, NC_000021.9 (34446688..34512210, complement) |
65523 nt | 7 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
Variant Information | ||||||||
Disorder Cross-References: GARD GTR MalaCards NORD |
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Clinical Symptoms & Disabilities