All variants in the KCNQ2 gene

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

1 entry on 1 page. Showing entry 1.
Legend   How to query  

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     
+/. 6 c.850T>G r.(?) p.(Tyr284Asp) - likely pathogenic g.62071028A>C g.63439675A>C - - KCNQ2_000051 - - - - De novo - - - 0 - NeuroMeGen
Legend   How to query