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     
+?/. 4 c.629G>C r.(?) p.(Arg210Pro) - likely pathogenic g.62076073C>G g.63444720C>G - - KCNQ2_000228 - PubMed: Ganapathy 2019 ClinVar-RCV000454413.1 - Germline - - - 0 - Johan den Dunnen
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