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     
+?/. - c.806G>C r.(?) p.(Trp269Ser) ACMG pathogenic (dominant) g.62073769C>G - - - KCNQ2_000223 ACMG: PM1, PM5, PM2, PP2:SUP, PP3; alters a highly conserved position in the pore loop between the S5 and S6 transmembrane segments, and other missense variants at the same position and in this region have been reported in association with benign familial neonatal seizures and neonatal epileptic encephalopathy. p.Trp269Leu regarded pathogenic (ClinVar) - - - Germline ? - - - - Andreas Laner
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