{{Rsnum
|rsid=12720449
|Gene=KCNQ1
|Chromosome=11
|position=2588804
|Orientation=plus
|GMAF=0.02938
|Gene_s=KCNQ1
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|geno1=(C;C)
|geno2=(C;G)
|geno3=(G;G)
}}{{PMID Auto
|PMID=22479571
|Title=Several Polymorphisms of KCNQ1 Gene Are Associated with Plasma Lipid Levels in General Chinese Populations
|OA=1
}}

{{ClinVar
|rsid=12720449
|Reversed=0
|FwdREF=C
|FwdALT=G,T
|REF=C
|ALT=G,T
|RSPOS=2610034
|CHROM=11
|GMAF=0.0293
|dbSNPBuildID=127
|SSR=0
|SAO=1
|VP=0x050178000000110416100100
|GENEINFO=KCNQ1:3784
|GENE_NAME=KCNQ1
|GENE_ID=3784
|WGT=0
|VC=SNV
|CLNALLE=1; 2
|CLNHGVS=NC_000011.9:g.2610034C>G; NC_000011.9:g.2610034C>T
|CLNORIGIN=1
|CLNSIG=1
|CLNCUI=
|Tags=PM;TPA;PMC;SLO;G5;HD;KGPhase1;KGPROD;OTHERKG;LSD
|CAF=0.9706; 0.02938; .
|COMMON=1
|CLNACC=RCV000057578.1; RCV000057579.1
|CLNDBN=not provided
|Disease=not provided
}}

{{PMID Auto
|PMID=19716085
|Title=Spectrum and prevalence of mutations from the first 2,500 consecutive unrelated patients referred for the FAMILION long QT syndrome genetic test.
|OA=1
}}

{{PMID Auto
|PMID=15242
|Title=[Nature of the enzymes participating in the transformation of proinsulin into insulin].
}}

{{PMID Auto
|PMID=10973849
|Title=Spectrum of mutations in long-QT syndrome genes. KVLQT1, HERG, SCN5A, KCNE1, and KCNE2.
}}

{{PMID Auto
|PMID=11997281
|Title=Allelic variants in long-QT disease genes in patients with drug-associated torsades de pointes.
}}

{{PMID Auto
|PMID=14661677
|Title=Ethnic differences in cardiac potassium channel variants: implications for genetic susceptibility to sudden cardiac death and genetic testing for congenital long QT syndrome.
}}

{{PMID Auto
|PMID=14731347
|Title=[A novel KCNQ1 mutation in Chinese with congenital long QT syndrome].
}}

{{PMID Auto
|PMID=15051636
|Title=Compound mutations: a common cause of severe long-QT syndrome.
}}

{{GET Evidence
|gene=KCNQ1
|aa_change=Pro448Arg
|aa_change_short=P448R
|impact=not reviewed
|qualified_impact=Insufficiently evaluated not reviewed
|inheritance=unknown
|quality_scores=Array
|dbsnp_id=rs12720449
|overall_frequency_n=3
|overall_frequency_d=128
|overall_frequency=0.0234375
|n_genomes=3
|n_genomes_annotated=0
|n_haplomes=3
|n_articles=0
|n_articles_annotated=0
|gene_in_genetests=Y
|pph2_score=0.002
|genetests_testable=Y
|genetests_reviewed=Y
|nblosum100=5
|autoscore=3
|n_web_uneval=10
}}

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