All variants in the KCNQ2 gene

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

3 entries on 1 page. Showing entries 1 - 3.
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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.602G>A r.(?) p.(Arg201His) - pathogenic g.62076100C>T g.63444747C>T KCNQ2(NM_172107.4):c.602G>A (p.R201H) - KCNQ2_000137 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Utrecht
+/. - c.602G>A r.(?) p.(Arg201His) - pathogenic g.62076100C>T g.63444747C>T KCNQ2(NM_172107.4):c.602G>A (p.R201H) - KCNQ2_000137 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
+/. - c.602G>A r.(?) p.(Arg201His) - pathogenic (dominant) g.62076100C>T g.63444747C>T NM_004518.4:c.602C>T (Arg201His) - KCNQ2_000137 - PubMed: Carvill 2013 - - De novo - - - 0 - Johan den Dunnen
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