Full data view for gene KCNQ2

Information The variants shown are described using the NM_172107.2 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     
+/? 4 c.587C>T r.(?) p.(Ala196Val) Unknown - pathogenic g.62076115G>A g.63444762G>A - - KCNQ2_000038 - PubMed: Soldovieri 2014, Journal: Soldovieri 2014 - - Germline - - - - - DNA SEQ - - BFNS1 - PubMed: Soldovieri 2014, Journal: Soldovieri 2014 - F - - - - - - - 1 Gaetan Lesca
+/. - c.587C>T r.(?) p.(Ala196Val) Unknown - pathogenic g.62076115G>A g.63444762G>A KCNQ2(NM_172107.4):c.587C>T (p.A196V) - KCNQ2_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.587C>T r.(?) p.(Ala196Val) Unknown - pathogenic g.62076115G>A g.63444762G>A KCNQ2(NM_172107.4):c.587C>T (p.A196V) - KCNQ2_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.587C>T r.(?) p.(Ala196Val) Unknown - pathogenic (dominant) g.62076115G>A g.63444762G>A NM_004518.4:c.587G>A (Ala196Val) - KCNQ2_000038 - PubMed: Carvill 2013 - - De novo - - - 0 - DNA MIP, SEQ, SEQ-NG - 65-gene panel EE T24158 PubMed: Carvill 2013 2-generation family, 1 affected, unaffected non-carrier parents M - - - - 0 - - 1 Johan den Dunnen
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