All variants in the KCNQ2 gene

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

2 entries on 1 page. Showing entries 1 - 2.
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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     
+/. - c.740C>T r.(?) p.(Ser247Leu) - pathogenic g.62073835G>A g.63442482G>A - - KCNQ2_000159 - PubMed: Papuc 2019 - - De novo - - - 0 - Anaïs Begemann
+/. - c.740C>T r.(?) p.(Ser247Leu) - pathogenic (dominant) g.62073835G>A g.63442482G>A 740C>T - KCNQ2_000159 - PubMed: Hong 2020 - - De novo - - - 0 - Johan den Dunnen
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