Variant Details for KCNQ2

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Basic Information Top

Gene Symbol:	KCNQ2 ( BFNC,EBN,EBN1,ENB1,HNSPC,KCNA11,KV7.2,KVEBN1 )
Gene Full Name:	potassium voltage-gated channel, KQT-like subfamily, member 2
Band:	20q13.33
Quick Links	Entrez ID:3785; OMIM: 602235; Uniprot ID:KCNQ2_HUMAN; ENSEMBL ID: ENSG00000075043; HGNC ID: 6296
Relate to Another Database:	SFARIGene; denovo-db

Variant Statistic Top

Click the link of the category-specific score to view different category of evidences. The categories without any evidences are hidden by default. Chromosome coordinates: hg19

Genetic Category	CNVs/SVs	de novo Mutations	Mosaics SNVs	NGS Other Mutations	Low-Scale Gene Mutations	Linkage Regions	Total
Number	4	2	0	0	0	0	6

CNVs/SVs Top

CNV ID	Chr	Band	Start	End	Size	Gain/Loss	UCSC Browser	Reference
AutCNV0000155	20	20q13.33	61478894	62906556	1427662	gain	external link	Marshall, 2008
AutCNV0000696	20	20q13.33	58466605	62965520	4498915	loss	external link	Berkel, 2010
AutCNV0004382	20	20q13.33	61478894	62906556	1427662	gain	external link	Sanders, 2011