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.793G>A r.(?) p.(Ala265Thr) - pathogenic g.62073782C>T g.63442429C>T - - KCNQ2_000045 - PubMed: DDDS 2015, Journal: DDDS 2015 - - De novo - - - 0 - Johan den Dunnen
+/. 5 c.793G>A r.(?) p.(Ala265Thr) - likely pathogenic g.62073782C>T g.63442429C>T - - KCNQ2_000045 - - - - De novo - - - 0 - NeuroMeGen
+/. - c.793G>A r.(?) p.(Ala265Thr) - pathogenic g.62073782C>T g.63442429C>T KCNQ2(NM_172107.4):c.793G>A (p.A265T) - KCNQ2_000045 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Utrecht
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