rs199422220
|
|
Abetalipoproteinemia
|
A |
0.800 |
CausalMutation
|
CLINVAR |
Loss of both phospholipid and triglyceride transfer activities of microsomal triglyceride transfer protein in abetalipoproteinemia.
|
23475612 |
2013 |
rs199422220
|
|
Abetalipoproteinemia
|
|
0.800 |
GeneticVariation
|
UNIPROT |
EFNS guidelines on the molecular diagnosis of ataxias and spastic paraplegias.
|
20050888 |
2010 |
rs199422220
|
|
Abetalipoproteinemia
|
A |
0.800 |
CausalMutation
|
CLINVAR |
A novel abetalipoproteinemia genotype. Identification of a missense mutation in the 97-kDa subunit of the microsomal triglyceride transfer protein that prevents complex formation with protein disulfide isomerase.
|
8939939 |
1996 |
rs199422221
|
|
Abetalipoproteinemia
|
T |
0.800 |
CausalMutation
|
CLINVAR |
Loss of both phospholipid and triglyceride transfer activities of microsomal triglyceride transfer protein in abetalipoproteinemia.
|
23475612 |
2013 |
rs199422221
|
|
Abetalipoproteinemia
|
|
0.800 |
GeneticVariation
|
UNIPROT |
EFNS guidelines on the molecular diagnosis of ataxias and spastic paraplegias.
|
20050888 |
2010 |
rs199422221
|
|
Abetalipoproteinemia
|
T |
0.800 |
CausalMutation
|
CLINVAR |
It is of interest that the patient having the Asn780Tyr mutation, a 27-year-old male, has none of the manifestations characteristic of classic ABL even though his plasma apoB and vitamin E were virtually undetectable.
|
10946006 |
2000 |
rs199422222
|
|
Abetalipoproteinemia
|
T |
0.800 |
CausalMutation
|
CLINVAR |
Loss of both phospholipid and triglyceride transfer activities of microsomal triglyceride transfer protein in abetalipoproteinemia.
|
23475612 |
2013 |
rs199422222
|
|
Abetalipoproteinemia
|
|
0.800 |
GeneticVariation
|
UNIPROT |
EFNS guidelines on the molecular diagnosis of ataxias and spastic paraplegias.
|
20050888 |
2010 |
rs199422222
|
|
Abetalipoproteinemia
|
T |
0.800 |
CausalMutation
|
CLINVAR |
Ileal adenocarcinoma in a mild phenotype of abetalipoproteinemia.
|
12630961 |
2003 |
rs767833468
|
|
Abetalipoproteinemia
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Novel Abetalipoproteinemia Missense Mutation Highlights the Importance of the N-Terminal β-Barrel in Microsomal Triglyceride Transfer Protein Function.
|
26224785 |
2015 |
rs767833468
|
|
Abetalipoproteinemia
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Novel missense MTTP gene mutations causing abetalipoproteinemia.
|
25108285 |
2014 |
rs767833468
|
|
Abetalipoproteinemia
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Loss of both phospholipid and triglyceride transfer activities of microsomal triglyceride transfer protein in abetalipoproteinemia.
|
23475612 |
2013 |
rs767833468
|
|
Abetalipoproteinemia
|
A |
0.800 |
CausalMutation
|
CLINVAR |
Loss of both phospholipid and triglyceride transfer activities of microsomal triglyceride transfer protein in abetalipoproteinemia.
|
23475612 |
2013 |
rs767833468
|
|
Abetalipoproteinemia
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Molecular and functional analysis of two new MTTP gene mutations in an atypical case of abetalipoproteinemia.
|
22236406 |
2012 |
rs767833468
|
|
Abetalipoproteinemia
|
|
0.800 |
GeneticVariation
|
UNIPROT |
EFNS guidelines on the molecular diagnosis of ataxias and spastic paraplegias.
|
20050888 |
2010 |
rs767833468
|
|
Abetalipoproteinemia
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Microsomal triglyceride transfer protein (MTP) gene mutations in Canadian subjects with abetalipoproteinemia.
|
10679949 |
2000 |
rs767833468
|
|
Abetalipoproteinemia
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Novel mutations in the microsomal triglyceride transfer protein gene causing abetalipoproteinemia.
|
10946006 |
2000 |
rs767833468
|
|
Abetalipoproteinemia
|
|
0.800 |
GeneticVariation
|
UNIPROT |
A novel abetalipoproteinemia genotype. Identification of a missense mutation in the 97-kDa subunit of the microsomal triglyceride transfer protein that prevents complex formation with protein disulfide isomerase.
|
8939939 |
1996 |
rs1367079155
|
|
Abetalipoproteinemia
|
|
0.700 |
GeneticVariation
|
UNIPROT |
Novel Abetalipoproteinemia Missense Mutation Highlights the Importance of the N-Terminal β-Barrel in Microsomal Triglyceride Transfer Protein Function.
|
26224785 |
2015 |
rs1367079155
|
|
Abetalipoproteinemia
|
|
0.700 |
GeneticVariation
|
UNIPROT |
In two patients with ABL, we identified in MTTP a novel frameshift mutation (K35Ffs*37), and four novel missense mutations, namely, G264R, Y528H, R540C, and N649S.
|
25108285 |
2014 |
rs1367079155
|
|
Abetalipoproteinemia
|
|
0.700 |
GeneticVariation
|
UNIPROT |
Loss of both phospholipid and triglyceride transfer activities of microsomal triglyceride transfer protein in abetalipoproteinemia.
|
23475612 |
2013 |
rs1367079155
|
|
Abetalipoproteinemia
|
|
0.700 |
GeneticVariation
|
UNIPROT |
Molecular and functional analysis of two new MTTP gene mutations in an atypical case of abetalipoproteinemia.
|
22236406 |
2012 |
rs1367079155
|
|
Abetalipoproteinemia
|
|
0.700 |
GeneticVariation
|
UNIPROT |
Microsomal triglyceride transfer protein (MTP) gene mutations in Canadian subjects with abetalipoproteinemia.
|
10679949 |
2000 |
rs1367079155
|
|
Abetalipoproteinemia
|
|
0.700 |
GeneticVariation
|
UNIPROT |
Novel mutations in the microsomal triglyceride transfer protein gene causing abetalipoproteinemia.
|
10946006 |
2000 |
rs1367079155
|
|
Abetalipoproteinemia
|
|
0.700 |
GeneticVariation
|
UNIPROT |
A novel abetalipoproteinemia genotype. Identification of a missense mutation in the 97-kDa subunit of the microsomal triglyceride transfer protein that prevents complex formation with protein disulfide isomerase.
|
8939939 |
1996 |