rs80338831
|
|
|
0.830 |
GeneticVariation |
UNIPROT |
Two mutations (E1841K and D1424N) have been reported elsewhere in families with May-Hegglin anomaly.
|
11752022 |
2002 |
rs80338834
|
|
|
0.830 |
GeneticVariation |
UNIPROT |
Two mutations (E1841K and D1424N) have been reported elsewhere in families with May-Hegglin anomaly.
|
11752022 |
2002 |
rs80338831
|
|
|
0.830 |
GeneticVariation |
UNIPROT |
The E1841K, D1424N, and R1933X coiled-coil domain mutations were common to both MHA and FTNS.
|
11590545 |
2001 |
rs80338834
|
|
|
0.830 |
GeneticVariation |
UNIPROT |
The E1841K, D1424N, and R1933X coiled-coil domain mutations were common to both MHA and FTNS.
|
11590545 |
2001 |
rs80338827
|
|
|
0.810 |
GeneticVariation |
UNIPROT |
R702C and R702H mutations were only associated with FTNS, EPS, or APSM, thus defining a region of MYHIIA critical in the combined pathogenesis of macrothrombocytopenia, nephritis, and deafness.
|
11590545 |
2001 |
rs121913655
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Nonmuscle myosin heavy chain IIA mutations define a spectrum of autosomal dominant macrothrombocytopenias: May-Hegglin anomaly and Fechtner, Sebastian, Epstein, and Alport-like syndromes.
|
11590545 |
2001 |
rs121913656
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Nonmuscle myosin heavy chain IIA mutations define a spectrum of autosomal dominant macrothrombocytopenias: May-Hegglin anomaly and Fechtner, Sebastian, Epstein, and Alport-like syndromes.
|
11590545 |
2001 |
rs121913657
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Nonmuscle myosin heavy chain IIA mutations define a spectrum of autosomal dominant macrothrombocytopenias: May-Hegglin anomaly and Fechtner, Sebastian, Epstein, and Alport-like syndromes.
|
11590545 |
2001 |
rs80338829
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Nonmuscle myosin heavy chain IIA mutations define a spectrum of autosomal dominant macrothrombocytopenias: May-Hegglin anomaly and Fechtner, Sebastian, Epstein, and Alport-like syndromes.
|
11590545 |
2001 |
rs80338830
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Nonmuscle myosin heavy chain IIA mutations define a spectrum of autosomal dominant macrothrombocytopenias: May-Hegglin anomaly and Fechtner, Sebastian, Epstein, and Alport-like syndromes.
|
11590545 |
2001 |
rs200901330
|
|
|
0.700 |
GeneticVariation |
UNIPROT |
Nonmuscle myosin heavy chain IIA mutations define a spectrum of autosomal dominant macrothrombocytopenias: May-Hegglin anomaly and Fechtner, Sebastian, Epstein, and Alport-like syndromes.
|
11590545 |
2001 |
rs554332083
|
|
|
0.700 |
GeneticVariation |
UNIPROT |
Nonmuscle myosin heavy chain IIA mutations define a spectrum of autosomal dominant macrothrombocytopenias: May-Hegglin anomaly and Fechtner, Sebastian, Epstein, and Alport-like syndromes.
|
11590545 |
2001 |
rs762773112
|
|
|
0.700 |
GeneticVariation |
UNIPROT |
Nonmuscle myosin heavy chain IIA mutations define a spectrum of autosomal dominant macrothrombocytopenias: May-Hegglin anomaly and Fechtner, Sebastian, Epstein, and Alport-like syndromes.
|
11590545 |
2001 |
rs76368635
|
|
|
0.700 |
GeneticVariation |
UNIPROT |
Nonmuscle myosin heavy chain IIA mutations define a spectrum of autosomal dominant macrothrombocytopenias: May-Hegglin anomaly and Fechtner, Sebastian, Epstein, and Alport-like syndromes.
|
11590545 |
2001 |
rs80338831
|
|
|
0.830 |
GeneticVariation |
UNIPROT |
MYH9-related disease: May-Hegglin anomaly, Sebastian syndrome, Fechtner syndrome, and Epstein syndrome are not distinct entities but represent a variable expression of a single illness.
|
12792306 |
2003 |
rs80338834
|
|
|
0.830 |
GeneticVariation |
UNIPROT |
MYH9-related disease: May-Hegglin anomaly, Sebastian syndrome, Fechtner syndrome, and Epstein syndrome are not distinct entities but represent a variable expression of a single illness.
|
12792306 |
2003 |
rs80338826
|
|
|
0.810 |
GeneticVariation |
UNIPROT |
MYH9-related disease: May-Hegglin anomaly, Sebastian syndrome, Fechtner syndrome, and Epstein syndrome are not distinct entities but represent a variable expression of a single illness.
|
12792306 |
2003 |
rs80338827
|
|
|
0.810 |
GeneticVariation |
UNIPROT |
MYH9-related disease: May-Hegglin anomaly, Sebastian syndrome, Fechtner syndrome, and Epstein syndrome are not distinct entities but represent a variable expression of a single illness.
|
12792306 |
2003 |
rs121913655
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
MYH9-related disease: May-Hegglin anomaly, Sebastian syndrome, Fechtner syndrome, and Epstein syndrome are not distinct entities but represent a variable expression of a single illness.
|
12792306 |
2003 |
rs121913656
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
MYH9-related disease: May-Hegglin anomaly, Sebastian syndrome, Fechtner syndrome, and Epstein syndrome are not distinct entities but represent a variable expression of a single illness.
|
12792306 |
2003 |
rs121913657
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
MYH9-related disease: May-Hegglin anomaly, Sebastian syndrome, Fechtner syndrome, and Epstein syndrome are not distinct entities but represent a variable expression of a single illness.
|
12792306 |
2003 |
rs80338829
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
MYH9-related disease: May-Hegglin anomaly, Sebastian syndrome, Fechtner syndrome, and Epstein syndrome are not distinct entities but represent a variable expression of a single illness.
|
12792306 |
2003 |
rs80338830
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
MYH9-related disease: May-Hegglin anomaly, Sebastian syndrome, Fechtner syndrome, and Epstein syndrome are not distinct entities but represent a variable expression of a single illness.
|
12792306 |
2003 |
rs200901330
|
|
|
0.700 |
GeneticVariation |
UNIPROT |
MYH9-related disease: May-Hegglin anomaly, Sebastian syndrome, Fechtner syndrome, and Epstein syndrome are not distinct entities but represent a variable expression of a single illness.
|
12792306 |
2003 |
rs554332083
|
|
|
0.700 |
GeneticVariation |
UNIPROT |
MYH9-related disease: May-Hegglin anomaly, Sebastian syndrome, Fechtner syndrome, and Epstein syndrome are not distinct entities but represent a variable expression of a single illness.
|
12792306 |
2003 |