Full data view for gene KCNE1

Information The variants shown are described using the NM_000219.4 transcript reference sequence.

3 entries on 1 page. Showing entries 1 - 3.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Allele     

Classification method     

Clinical classification     

DNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Template     

Technique     

Tissue     

Remarks     

Disease     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age at death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
?/? 3 c.238G>A r.(?) p.(Val80Ile) Unknown - VUS g.35821695C>T g.34449397C>T - - KCNE1_000070 - PubMed: Riuro 2014 - - Germline - - - 0 - DNA SEQ - - LQT-5 - PubMed: Riuro 2014 - - - - - - 0 - - 1 Anna Iglesias
+?/+? 4 c.238G>A r.(?) p.(Val80Ile) Parent #1 - likely pathogenic g.35821695C>T g.34449397C>T - - KCNE1_000070 - MORL Deafness Variation Database, PubMed: Riuró 2015 - - SUMMARY record - - - 0 - DNA ? - - LQT - PubMed: Riuró 2015 - - - - - - 0 - - 1 Global Variome, with Curator vacancy
-?/. - c.238G>A r.(?) p.(Val80Ile) Unknown - likely benign g.35821695C>T - KCNE1(NM_001127670.1):c.238G>A (p.V80I) - KCNE1_000070 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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