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rs28936670

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
(G;G) 0 reversed normal
Make rs28936670(C;T)
Make rs28936670(T;T)
ReferenceGRCh38 38.1/142
Chromosome5
Position173235011
GeneNKX2-5
is asnp
is mentioned by
dbSNPrs28936670
ebirs28936670
HLIrs28936670
Exacrs28936670
Varsomers28936670
Maprs28936670
PheGenIrs28936670
hapmaprs28936670
1000 genomesrs28936670
hgdprs28936670
ensemblrs28936670
gopubmedrs28936670
geneviewrs28936670
scholarrs28936670
googlers28936670
pharmgkbrs28936670
gwascentralrs28936670
openSNPrs28936670
23andMers28936670
23andMe allrs28936670
SNP Nexus

SNPshotrs28936670
SNPdbers28936670
MSV3drs28936670
GWAS Ctlgrs28936670
GMAF0.004591
Max Magnitude0
OMIM600584
DescTETRALOGY OF FALLOT
Variant0004
Relatedalso


ClinVar
Risk rs28936670(T;T)
Alt rs28936670(T;T)
Reference rs28936670(C;C)
Significance Pathogenic
Disease Tetralogy of Fallot Hypothyroidism Interrupted aortic arch Truncus arteriosus Hypoplastic left heart syndrome 2 Congenital heart disease not specified Malformation of the heart and great vessels not provided Atrial septal defect 7 with or without atrioventricular conduction defects
Variation info
Gene NKX2-5
CLNDBN Tetralogy of Fallot Hypothyroidism, congenital, nongoitrous, 5 Interrupted aortic arch Truncus arteriosus Hypoplastic left heart syndrome 2 Congenital heart disease not specified Malformation of the heart and great vessels not provided Atrial septal defect 7 with or without atrioventricular conduction defects
Reversed 1
HGVS NC_000005.9:g.172662014G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000009572.3, RCV000009573.3, RCV000023017.3, RCV000023018.5, RCV000023019.3, RCV000030339.1, RCV000037968.2, RCV000146755.1, RCV000171008.2, RCV000206285.2,



[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 12414819OA-icon.png] 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.