|
rs121909750
|
GP1BB;SEPTIN5;SEPT5-GP1BB
|
Bernard-Soulier Syndrome
|
|
0.810 |
GeneticVariation |
BEFREE |
A missense mutation (Tyr88 to Cys) in the platelet membrane glycoprotein Ibbeta gene affects GPIb/IX complex expression--Bernard-Soulier syndrome in the homozygous form and giant platelets in the heterozygous form.
|
11816714 |
2001 |
|
rs121909750
|
GP1BB;SEPTIN5;SEPT5-GP1BB
|
Bernard-Soulier Syndrome
|
|
0.810 |
GeneticVariation |
UNIPROT |
Missense mutations of the glycoprotein (GP) Ib beta gene impairing the GPIb alpha/beta disulfide linkage in a family with giant platelet disorder.
|
9116284 |
1997 |
|
rs121909750
|
GP1BB;SEPTIN5;SEPT5-GP1BB
|
Bernard-Soulier Syndrome
|
G |
0.810 |
CausalMutation |
CLINVAR |
|
|
|
|
rs121909751
|
GP1BB;SEPT5-GP1BB
|
Bernard-Soulier Syndrome
|
|
0.800 |
GeneticVariation |
UNIPROT |
Missense mutations of the glycoprotein (GP) Ib beta gene impairing the GPIb alpha/beta disulfide linkage in a family with giant platelet disorder.
|
9116284 |
1997 |
|
rs121909751
|
GP1BB;SEPT5-GP1BB
|
Bernard-Soulier Syndrome
|
C |
0.800 |
CausalMutation |
CLINVAR |
|
|
|
|
rs121909752
|
GP1BB;SEPTIN5;SEPT5-GP1BB
|
Thrombocytopenia
|
A |
0.700 |
GeneticVariation |
CLINVAR |
Diagnostic high-throughput sequencing of 2396 patients with bleeding, thrombotic, and platelet disorders.
|
31064749 |
2019 |
|
rs1059196
|
GP1BB;SEPT5-GP1BB
|
Platelet Component Distribution Width Measurement
|
T |
0.700 |
GeneticVariation |
GWASCAT |
The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.
|
27863252 |
2016 |
|
rs1059196
|
GP1BB;SEPT5-GP1BB
|
Platelet mean volume determination (procedure)
|
T |
0.700 |
GeneticVariation |
GWASCAT |
The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.
|
27863252 |
2016 |
|
rs1059196
|
GP1BB;SEPT5-GP1BB
|
Platelet Count measurement
|
T |
0.700 |
GeneticVariation |
GWASCAT |
The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.
|
27863252 |
2016 |
|
rs121909752
|
GP1BB;SEPTIN5;SEPT5-GP1BB
|
Increased mean platelet volume
|
A |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
|
rs121909752
|
GP1BB;SEPTIN5;SEPT5-GP1BB
|
Bernard-Soulier Syndrome, Type B
|
A |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
|
rs121909752
|
GP1BB;SEPTIN5;SEPT5-GP1BB
|
Macrothrombocytopenia
|
A |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
|
rs587783648
|
GP1BB;SEPTIN5;SEPT5-GP1BB
|
Bernard-Soulier Syndrome
|
T |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
|
rs730882059
|
GP1BB;SEPTIN5;SEPT5-GP1BB
|
Bernard-Soulier Syndrome, Type B
|
G |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
|
rs750315624
|
GP1BB;SEPT5-GP1BB
|
Macrothrombocytopenia
|
|
0.010 |
GeneticVariation |
BEFREE |
However, some years ago it was shown that the monoallelic c.515C>T transition in the GPIBA gene (Bolzano mutation) was responsible for macrothrombocytopenia in a few Italian patients.
|
21933849 |
2012 |
|
rs121909750
|
GP1BB;SEPTIN5;SEPT5-GP1BB
|
Blood Platelet Disorders
|
|
0.010 |
GeneticVariation |
BEFREE |
Five individuals from Family II, four of whom reported elsewhere as having giant platelet disorders with normal aggregation (BLOOD, 1997: 89: 2404) and one newly analyzed in this study, were heterozygous for Tyr88Cys in the GPIbbeta gene.
|
11816714 |
2001 |