All variants in the KCNQ2 gene

Information The variants shown are described using the NM_172107.2 transcript reference sequence.

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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

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     

Owner     
?/? 6i c.928-1G>C r.[=,928_957del] p.Gly310_Lys319del10 - VUS g.62070074C>G g.63438721C>G - - KCNQ2_000035 - PubMed: Soldovieri 2014, Journal: Soldovieri 2014 - - De novo - - - - - Gaetan Lesca
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