|
rs137853128
|
|
|
0.710 |
GeneticVariation |
BEFREE |
A long-term survivor with the acampomelic form of CD has an A76E amino acid substitution, while a severely affected CD patient had an in-frame deletion of amino acid residues 66-75.
|
12783851 |
2003 |
|
rs77375493
|
|
|
0.070 |
GeneticVariation |
BEFREE |
They also suggest that previous reports of the incidence of JAK2-V617F in CMPD patients, obtained using only analysis of granulocytes, could be underestimations.
|
17854308 |
2007 |
|
rs77375493
|
|
|
0.070 |
GeneticVariation |
BEFREE |
To determine the prevalence of JAK2 V617F mutation and its clinical correlation in patients with chronic myeloproliferative disorders (CMD): polycythemia vera (PV), essential thrombocythemia (ET) and idiopathic myelofibrosis (IMF).
|
19941738 |
2009 |
|
rs77375493
|
|
|
0.070 |
GeneticVariation |
BEFREE |
Using an allele-specific polymerase chain reaction assay (AS-PCR), the JAK2 V617F mutation was detected in 124/158 (78.5%) cMPD patients; in particular, 90.2, 72.1, 63.2 and 50% of PV, ET, IMF and unclassified (U)-MPD cases, respectively, showed the mutation.
|
18720212 |
2008 |
|
rs77375493
|
|
|
0.070 |
GeneticVariation |
BEFREE |
In patients with CMD, the multivariate generalized linear regression model showed that the JAK2 (V617F) mutational burden (P = 0.01), serum lactate dehydrogenase level (P = 0.003), and anaemia (P < 0.001) independently correlated with MVD.
|
18028479 |
2008 |
|
rs77375493
|
|
|
0.070 |
GeneticVariation |
BEFREE |
A substantial proportion of patients with splanchnic venous thrombosis and a small, but significant, number of patients with CVT can be recognized as carriers of the JAK2 V617F mutation in the absence of overt signs of CMD.
|
17263783 |
2007 |
|
rs77375493
|
|
|
0.070 |
GeneticVariation |
BEFREE |
It identifies most of the patients with the JAK2 V617F but also other JAK2 wild-type CMPD patients.
|
17255768 |
2007 |
|
rs77375493
|
|
|
0.070 |
GeneticVariation |
BEFREE |
The recently discovered mutations in patients with CMD (V617F and exon 12 of JAK2 gene, MPL gene), and those identified in hereditary erythrocytosis and in hereditary thrombocytosis have improved our ability to discriminate these conditions.
|
18484677 |
2008 |
|
rs104894681
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Using AAV9-mediated overexpression of mutant human FKRP bearing the P448L mutation (mhFKRP-P448L) associated with severe congenital muscular dystrophy (CMD), we demonstrate the restoration of functional glycosylation of α-DG and reduction in markers of disease progression.
|
29858056 |
2018 |
|
rs764670582
|
|
|
0.010 |
GeneticVariation |
BEFREE |
In this study, we performed whole-exome sequencing for one subject with AR CMD and identified a novel missense mutation (c.716G>A, p.Arg239Gln) in the C-terminus of the gap junction protein alpha-1 (GJA1) coding for connexin 43 (Cx43).
|
23951358 |
2013 |
|
rs137853129
|
|
G |
0.800 |
CausalMutation |
CLINVAR |
|
|
|
|
rs1057518216
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
|
rs1057518669
|
|
C |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
|
rs1555629022
|
|
G |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
|
rs1555629037
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
|
rs1555629158
|
|
G |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
|
rs1555629443
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
|
rs1567910689
|
|
C |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
|
rs587776541
|
|
GC |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
|
rs80338688
|
|
G |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
|
rs80338688
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
|
rs866706988
|
|
T |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
|
rs137853129
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Compound effects of point mutations causing campomelic dysplasia/autosomal sex reversal upon SOX9 structure, nuclear transport, DNA binding, and transcriptional activation.
|
11323423 |
2001 |
|
rs137853129
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Novel missense mutation in the HMG box of SOX9 gene in a Japanese XY male resulted in campomelic dysplasia and severe defect in masculinization.
|
9452059 |
1998 |
|
rs137853129
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Mutational analysis of the SOX9 gene in campomelic dysplasia and autosomal sex reversal: lack of genotype/phenotype correlations.
|
9002675 |
1997 |