rs80338831
|
|
|
0.720 |
GeneticVariation |
BEFREE |
Asp1424Asn MYH9 mutation results in an unstable protein responsible for the phenotypes in May-Hegglin anomaly/Fechtner syndrome.
|
12649151 |
2003 |
rs80338831
|
|
|
0.720 |
GeneticVariation |
BEFREE |
Two mutations (E1841K and D1424N) have been reported elsewhere in families with May-Hegglin anomaly.
|
11752022 |
2002 |
rs80338831
|
|
T |
0.720 |
CausalMutation |
CLINVAR |
|
|
|
rs80338831
|
|
A |
0.720 |
CausalMutation |
CLINVAR |
|
|
|
rs80338827
|
|
T |
0.710 |
GeneticVariation |
CLINVAR |
Diagnostic high-throughput sequencing of 2396 patients with bleeding, thrombotic, and platelet disorders.
|
31064749 |
2019 |
rs80338835
|
|
|
0.710 |
GeneticVariation |
BEFREE |
R1933X mutation in the MYH9 gene in May-Hegglin anomaly mimicking idiopathic thrombocytopenic purpura.
|
23759689 |
2014 |
rs80338826
|
|
|
0.710 |
GeneticVariation |
BEFREE |
Transfection of cells with three MYH9 mutations frequently responsible for MYH9-RD (p.R702</span>C, p.D1424H, or p.R1933X) resulted in a defective SDF-1-driven migration with respect to the wild-type counterpart and in increased cell spreading onto collagen.
|
21833445 |
2011 |
rs80338829
|
|
|
0.710 |
GeneticVariation |
BEFREE |
Clusters of NMMHC-IIA in granulocytes and a R1165C mutation in the MYH9-gene in two macrothrombocytopenic family members confirmed the diagnosis of a MYH9-related disease.
|
17655694 |
2007 |
rs121913657
|
|
|
0.710 |
GeneticVariation |
BEFREE |
The two others (R1165L and S96L) are new mutations, although one of them affects a codon (R1165), found elsewhere to be mutated in Sebastian syndrome.
|
11752022 |
2002 |
rs80338827
|
|
|
0.710 |
GeneticVariation |
BEFREE |
On the contrary, the R702H mutation does not allow the protein to aggregate and thus to generate "Döhle-like" bodies, which are indeed absent in EPTS.
|
11935325 |
2002 |
rs80338834
|
|
|
0.710 |
GeneticVariation |
BEFREE |
Two mutations (E1841K and D1424N) have been reported elsewhere in families with May-Hegglin anomaly.
|
11752022 |
2002 |
rs121913657
|
|
A |
0.710 |
CausalMutation |
CLINVAR |
|
|
|
rs80338826
|
|
A |
0.710 |
CausalMutation |
CLINVAR |
|
|
|
rs80338829
|
|
A |
0.710 |
CausalMutation |
CLINVAR |
|
|
|
rs80338834
|
|
T |
0.710 |
CausalMutation |
CLINVAR |
|
|
|
rs80338835
|
|
A |
0.710 |
CausalMutation |
CLINVAR |
|
|
|
rs867593888
|
|
C |
0.700 |
GeneticVariation |
CLINVAR |
Diagnostic high-throughput sequencing of 2396 patients with bleeding, thrombotic, and platelet disorders.
|
31064749 |
2019 |
rs121913655
|
|
C |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs797044804
|
|
A |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
rs80338828
|
|
|
0.010 |
GeneticVariation |
BEFREE |
R705H mutation of MYH9 is associated with MYH9-related disease and not only with non-syndromic deafness DFNA17.
|
24890873 |
2015 |
rs727503284
|
|
|
0.010 |
GeneticVariation |
BEFREE |
We describe a Chinese family with an MYH9-related disorder in which a novel mutation V1516L at exon 31 of the MYH9 gene was identified.
|
16818291 |
2006 |
rs80338830
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The two others (R1165L and S96L) are new mutations, although one of them affects a codon (R1165), found elsewhere to be mutated in Sebastian syndrome.
|
11752022 |
2002 |