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.
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.916G>A r.(?) p.(Ala306Thr) - pathogenic g.62070962C>T g.63439609C>T - - KCNQ2_000036 - PubMed: Soldovieri 2014, Journal: Soldovieri 2014 - - Germline - - - - - Gaetan Lesca
+/. - c.916G>A r.(?) p.(Ala306Thr) - pathogenic g.62070962C>T g.63439609C>T KCNQ2(NM_172107.3):c.916G>A (p.A306T) - KCNQ2_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
Legend   How to query