Full data view for gene KCNE1

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

5 entries on 1 page. Showing entries 1 - 5.
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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.29C>T r.(?) p.(Thr10Met) Unknown - VUS g.35821904G>A g.34449606G>A KCNE1(NM_001127670.1):c.29C>T (p.T10M) - KCNE1_000096 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/+ 4 c.29C>T r.(?) p.(Thr10Met) Parent #1 - pathogenic g.35821904G>A g.34449606G>A - - KCNE1_000096 - MORL Deafness Variation Database, PubMed: Priori 2013, PubMed: Kapplinger 2009, PubMed: Ng 2013, PubMed: Amendola 2015 - - SUMMARY record - - - 0 - DNA ? - - LQT - PubMed: Priori 2013, PubMed: Kapplinger 2009, PubMed: Ng 2013, PubMed: Amendola 2015 - - - - - - 0 - - 1 Global Variome, with Curator vacancy
?/. - c.29C>T r.(?) p.(Thr10Met) Parent #1 - VUS g.35821904G>A g.34449606G>A - - KCNE1_000096 conflicting interpretations of pathogenicity; 4 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs144917638 Germline - 4/2793 individuals - 0 - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - 4 Mohammed Faruq
?/. - c.29C>T r.(?) p.(Thr10Met) Unknown - VUS g.35821904G>A g.34449606G>A KCNE1(NM_001127670.1):c.29C>T (p.T10M) - KCNE1_000096 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.29C>T r.(?) p.(Thr10Met) Unknown - VUS g.35821904G>A - KCNE1(NM_001127670.1):c.29C>T (p.T10M) - KCNE1_000096 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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