rs28936670
|
|
|
0.810 |
GeneticVariation |
UNIPROT |
|
|
|
rs104893905
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Mutations in the cardiac transcription factor NKX2.5 affect diverse cardiac developmental pathways.
|
10587520 |
1999 |
rs104893905
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
NKX2.5 mutations in patients with congenital heart disease.
|
14607454 |
2003 |
rs104893905
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
NKX2.5 mutations in patients with tetralogy of fallot.
|
11714651 |
2001 |
rs104893902
|
|
|
0.700 |
GeneticVariation |
UNIPROT |
NKX2.5 mutations in patients with tetralogy of fallot.
|
11714651 |
2001 |
rs104893902
|
|
|
0.700 |
GeneticVariation |
UNIPROT |
NKX2.5 mutations in patients with congenital heart disease.
|
14607454 |
2003 |
rs104893902
|
|
|
0.700 |
GeneticVariation |
UNIPROT |
Mutations in the cardiac transcription factor NKX2.5 affect diverse cardiac developmental pathways.
|
10587520 |
1999 |
rs104893904
|
|
|
0.700 |
GeneticVariation |
UNIPROT |
NKX2.5 mutations in patients with congenital heart disease.
|
14607454 |
2003 |
rs104893904
|
|
|
0.700 |
GeneticVariation |
UNIPROT |
Mutations in the cardiac transcription factor NKX2.5 affect diverse cardiac developmental pathways.
|
10587520 |
1999 |
rs104893904
|
|
|
0.700 |
GeneticVariation |
UNIPROT |
NKX2.5 mutations in patients with tetralogy of fallot.
|
11714651 |
2001 |
rs201442000
|
|
|
0.700 |
GeneticVariation |
UNIPROT |
|
|
|
rs28936670
|
|
A |
0.810 |
CausalMutation |
CLINVAR |
|
|
|
rs104893905
|
|
A |
0.800 |
CausalMutation |
CLINVAR |
|
|
|
rs28936670
|
|
|
0.810 |
GeneticVariation |
BEFREE |
They found one previously documented NKX2-5 missense alteration, heterozygous c.73C>T (p.Arg25Cys), in a 10-year-old boy with tetralogy of Fallot.
|
17891434 |
2008 |
rs2277923
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Of the above mutations, one mutation was found to be associated with tetralogy of fallot (TOF) and two (rs2277923 and a novel mutation, D16N) were strongly associated with VSD.
|
29568389 |
2018 |