| Geno
|
Mag
|
Summary
|
| (C;C)
|
0
|
common in clinvar
|
| (G;G)
|
0
|
reversed normal
|
| ClinVar
|
| Risk
|
rs28936670(T;T) |
| Alt
|
rs28936670(T;T) |
| Reference
|
Rs28936670(C;C) |
| Significance |
Other |
| 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 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 Atrial septal defect 7 with or without atrioventricular conduction defects |
| Reversed |
1 |
| HGVS |
NC_000005.9:g.172662014G>A |
| CLNSRC |
OMIM Allelic Variant UniProtKB (protein) |
| CLNACC |
RCV000009572.4, RCV000009573.4, RCV000023017.4, RCV000023018.6, RCV000023019.4, RCV000030339.1, RCV000037968.4, RCV000146755.1, RCV000206285.3, |
[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
] 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.
] Two novel frameshift mutations in NKX2.5 result in novel features including visceral inversus and sinus venosus type ASD.
