Full data view for gene KCNE1

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

4 entries on 1 page. Showing entries 1 - 4.
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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     
-/. - c.174C>G r.(?) p.(Thr58=) Unknown - benign g.35821759G>C g.34449461G>C KCNE1(NM_000219.3):c.174C>G (p.T58=), KCNE1(NM_001127670.1):c.174C>G (p.T58=) - KCNE1_000090 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.174C>G r.(?) p.(Thr58=) Unknown - likely benign g.35821759G>C g.34449461G>C KCNE1(NM_000219.3):c.174C>G (p.T58=), KCNE1(NM_001127670.1):c.174C>G (p.T58=) - KCNE1_000090 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/-? 4 c.174C>G r.(=) p.(=) Parent #1 - likely benign g.35821759G>C g.34449461G>C - - KCNE1_000090 - MORL Deafness Variation Database, PubMed: Duzkale 2013 - - SUMMARY record - - - 0 - DNA ? - - - - PubMed: Duzkale 2013 - - - - - - 0 - - 1 Global Variome, with Curator vacancy
-?/. - c.174C>G r.(?) p.(Thr58=) Unknown - likely benign g.35821759G>C - KCNE1(NM_000219.3):c.174C>G (p.T58=), KCNE1(NM_001127670.1):c.174C>G (p.T58=) - KCNE1_000090 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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