All variants in the KCNQ2 gene

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

4 entries on 1 page. Showing entries 1 - 4.
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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.587C>T r.(?) p.(Ala196Val) - pathogenic g.62076115G>A g.63444762G>A - - KCNQ2_000038 - PubMed: Soldovieri 2014, Journal: Soldovieri 2014 - - Germline - - - - - Gaetan Lesca
+/. - c.587C>T r.(?) p.(Ala196Val) - pathogenic g.62076115G>A g.63444762G>A KCNQ2(NM_172107.4):c.587C>T (p.A196V) - KCNQ2_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
+/. - c.587C>T r.(?) p.(Ala196Val) - pathogenic g.62076115G>A g.63444762G>A KCNQ2(NM_172107.4):c.587C>T (p.A196V) - KCNQ2_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
+/. - c.587C>T r.(?) p.(Ala196Val) - pathogenic (dominant) g.62076115G>A g.63444762G>A NM_004518.4:c.587G>A (Ala196Val) - KCNQ2_000038 - PubMed: Carvill 2013 - - De novo - - - 0 - Johan den Dunnen
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