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.
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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.620G>A r.(?) p.(Arg207Gln) - pathogenic g.62076082C>T g.63444729C>T KCNQ2(NM_172107.4):c.620G>A (p.R207Q) - KCNQ2_000136 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Utrecht
+/. - c.620G>A r.(?) p.(Arg207Gln) - pathogenic g.62076082C>T g.63444729C>T - - KCNQ2_000136 3 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs118192200 Germline - 3/2790 individuals - 0 - Mohammed Faruq
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