{{Rsnum
|rsid=1801475
|Gene=KCNQ2
|Chromosome=20
|position=63406924
|Orientation=minus
|ReferenceAllele=A
|MissenseAllele=C
|GMAF=0.4118
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|geno1=(A;A)
|geno2=(A;C)
|geno3=(C;C)
|Gene_s=KCNQ2
}}{{Venter SNP
|rsid=1801475
|allele=G
|frequency=
|uid=1103643241529
|type=homozygous_SNP
|hugo=KCNQ2
|ensembl gene=ENSG00000075043
|ensembl transcript=ENST00000359125
|sift=TOLERATED
|disease=Defects in KCNQ2 are the cause of benign familial neonatal convulsions type 1 (BFNC1) (MIM:121200); also known as epilepsy, benign neonatal type 1 (EBN1). BFNC1 is an autosomal dominant form of epilepsy in the newborn that clears spontaneously after a few weeks and is followed by normal psychomotor development.
}}

{{ClinVar
|rsid=1801475
|Reversed=1
|FwdREF=A
|FwdALT=C
|REF=T
|ALT=G
|RSPOS=62038277
|CHROM=20
|GMAF=0.4121
|dbSNPBuildID=89
|SSR=0
|SAO=0
|VP=0x050160000000170516100100
|GENEINFO=KCNQ2:3785
|GENE_NAME=KCNQ2
|GENE_ID=3785
|WGT=0
|VC=SNV
|CLNALLE=1
|CLNHGVS=NC_000020.10:g.62038277T>G
|CLNSRC=Emory University; GeneReviews
|CLNSRCID=10480; NBK32534
|CLNSIG=2
|CLNCUI=C1852587
|CLNDBN=Benign familial neonatal seizures 1; AllHighlyPenetrant
|Disease=Benign familial neonatal seizures 1; AllHighlyPenetrant
|CLNACC=RCV000020987.1; RCV000082686.1
|Tags=RV;PM;SLO;VLD;G5A;G5;HD;GNO;KGPhase1;KGPROD;OTHERKG;LSD
|CAF=0.4118; 0.5882
|CLNDSDB=GeneReviews:MedGen:OMIM:Orphanet; MedGen
|CLNDSDBID=NBK32534:C1852587:121200:1949; CN169374
|COMMON=1
}}

{{GET Evidence
|gene=KCNQ2
|aa_change=Asn780Thr
|aa_change_short=N780T
|impact=not reviewed
|qualified_impact=Insufficiently evaluated not reviewed
|inheritance=unknown
|quality_scores=Array
|dbsnp_id=rs1801475
|overall_frequency_n=6383
|overall_frequency_d=10688
|overall_frequency=0.597212
|n_genomes=33
|n_genomes_annotated=0
|n_haplomes=44
|n_articles=0
|n_articles_annotated=0
|qualityscore_in_silico=3
|qualitycomment_in_silico=Y
|gene_in_genetests=Y
|genetests_testable=Y
|genetests_reviewed=Y
|nblosum100=1
|autoscore=2
|webscore=N
}}

{{on chip | 23andMe v3}}
{{on chip | 23andMe v4}}
{{on chip | FTDNA2}}
{{on chip | HumanOmni1Quad}}