{{Rsnum
|rsid=28936670
|Gene=NKX2-5
|Chromosome=5
|position=173235011
|Orientation=plus
|ReferenceAllele=C
|MissenseAllele=T
|GMAF=0.004591
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|geno1=(C;C)
|geno2=(C;T)
|geno3=(T;T)
|Gene_s=NKX2-5
}}{{omim
|desc=TETRALOGY OF FALLOT
|id=600584
|rsnum=28936670
|variant=0004
}}

{{ClinVar
|rsid=28936670
|Reversed=1
|FwdREF=C
|FwdALT=T
|REF=G
|ALT=A
|RSPOS=172662014
|CHROM=5
|GMAF=0.0046
|dbSNPBuildID=130
|SSR=0
|SAO=1
|VP=0x050178000000040016110100
|GENEINFO=NKX2-5:1482
|GENE_NAME=NKX2-5
|GENE_ID=1482
|WGT=0
|VC=SNV
|CLNALLE=1
|CLNHGVS=NC_000005.9:g.172662014G>A
|CLNSRC=OMIM Allelic Variant
|CLNORIGIN=1
|CLNSRCID=600584.0004
|CLNSIG=5
|CLNCUI=C0039685; C2673630; C0152419; CN120581
|CLNDBN=Tetralogy of Fallot; Hypothyroidism, congenital, nongoitrous, 5; Interrupted aortic arch; TRUNCUS ARTERIOSUS; Hypoplastic left heart syndrome 2; Congenital heart disease; AllHighlyPenetrant
|Disease=Tetralogy of Fallot; Hypothyroidism; Interrupted aortic arch; TRUNCUS ARTERIOSUS; Hypoplastic left heart syndrome 2; Congenital heart disease; AllHighlyPenetrant
|CLNACC=RCV000009572.1; RCV000009573.1; RCV000023017.1; RCV000023018.3; RCV000023019.1; RCV000030339.1; RCV000037968.1
|Tags=RV;PM;TPA;PMC;SLO;VLD;KGPhase1;KGPROD;OTHERKG;LSD;OM
|CAF=0.9954; 0.004591
|CLNDSDB=MedGen:OMIM:Orphanet:SNOMED_CT; MedGen:OMIM:Orphanet; MedGen; MedGen:SNOMED_CT
|CLNDSDBID=C0039685:187500:3303:86299006; C2673630:225250:95712; C0152419; C3280795:614435:2248; C0152021:13213009; CN169374
|COMMON=1
}}

{{PMID|11714}} Analysis of body height in 829 patients with different forms of testicular pathology.

{{PMID|11428001}} Atrial form and function: lessons from human molecular genetics.

{{PMID|12112663}} Progressive AV-block and anomalous venous return among cardiac anomalies associated with two novel missense mutations in the CSX/NKX2-5 gene.

{{PMID|12414819|OA=1
}} Two novel frameshift mutations in NKX2.5 result in novel features including visceral inversus and sinus venosus type ASD.

{{PMID|15810002}} Phenotypes with GATA4 or NKX2.5 mutations in familial atrial septal defect.

{{PMID|19073351}} NKX2.5 mutations in patients with non-syndromic congenital heart disease.

{{on chip | 23andMe v1}}
{{on chip | 23andMe v2}}
{{on chip | 23andMe v3}}
{{on chip | 23andMe v4}}