Full data view for gene KCNQ1

Information The variants shown are described using the NM_000218.2 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     
-/. 11 c.1476A>G r.(=) p.(=) Unknown - benign g.2683273A>G g.2662043A>G A1476G - KCNQ1_000143 data from Inherited Arrhythmias web site PubMed: Jongbloed 2002 - - Germline - - - 0 - DNA SEQ - - Healthy/Control 12402336-? PubMed: Jongbloed 2002 data from Inherited Arrhythmias web site - - Netherlands - - 0 - - 1 Johan den Dunnen
-?/. - c.1476A>G r.(?) p.(Glu492=) Unknown - likely benign g.2683273A>G g.2662043A>G KCNQ1(NM_000218.2):c.1476A>G (p.E492=) - KCNQ1_000143 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.1476A>G r.(?) p.(Glu492=) Unknown - likely benign g.2683273A>G g.2662043A>G KCNQ1(NM_000218.2):c.1476A>G (p.E492=) - KCNQ1_000143 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.1476A>G r.(?) p.(Glu492=) Unknown - benign g.2683273A>G g.2662043A>G KCNQ1(NM_000218.2):c.1476A>G (p.E492=) - KCNQ1_000143 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/- 11 c.1476A>G r.(=) p.(=) Parent #1 - benign g.2683273A>G g.2662043A>G - - KCNQ1_000143 - MORL Deafness Variation Database, PubMed: Green 2013 - - SUMMARY record - - - 0 - DNA ? - - ? - PubMed: Green 2013 - - - - - - 0 - - 1 Global Variome, with Curator vacancy
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