Description:
FACTOR V DEFICIENCY
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Repository
|
NIGMS Human Genetic Cell Repository
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| Subcollection |
Heritable Diseases |
| Class |
Disorders of Uncertain Biochemical Etiology |
| Quantity |
25 µg |
| Quantitation Method |
Please see our FAQ |
|
Biopsy Source
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Peripheral vein
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|
Cell Type
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B-Lymphocyte
|
|
Tissue Type
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Blood
|
|
Transformant
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Epstein-Barr Virus
|
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Sample Source
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DNA from LCL
|
|
Relation to Proband
|
proband
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Confirmation
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Molecular characterization before cell line submission to CCR
|
|
Species
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Homo sapiens
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|
Common Name
|
Human
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|
Remarks
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|
| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin confirmed by LINE assay |
| |
| Gene |
F5 |
| Chromosomal Location |
1q23 |
| Allelic Variant 1 |
H1299R; THROMBOPHILIA DUE TO DEFICIENCY OF COFACTOR FOR ACTIVATED PROTEIN |
| Identified Mutation |
HIS1299ARG |
| Remarks |
Donor subject has one allele with an A>G transition at nucleotide 4070 in exon 13 of the F5 gene [4070A>G] resulting in a substitution of arginine for histidine at codon 1299 [His1299Arg (H1299R)]. |
| Gene Ontology |
GO:0005507 copper ion binding |
|
GO:0005576 extracellular |
|
GO:0007155 cell adhesion |
|
GO:0007596 blood coagulation |
| NCBI Gene |
Gene ID:2153 |
| NCBI GTR |
227400 FACTOR V DEFICIENCY |
| OMIM |
227400 FACTOR V DEFICIENCY |
| Omim Description |
ACTIVATED PROTEIN C, COFACTOR FOR, INCLUDED |
| |
APC RESISTANCE, INCLUDED |
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APC, COFACTOR FOR, INCLUDED |
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FACTOR V DEFICIENCY |
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LABILE FACTOR DEFICIENCYCOAGULATION FACTOR V, INCLUDED; F5, INCLUDED |
| |
OWREN PARAHEMOPHILIA |
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PROTEIN C COFACTOR, INCLUDED; PCCF, INCLUDED |
| |
THROMBOPHILIA V, INCLUDED |
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