Coagulation Factor VII

Alternative Names

  • F7
  • Factor VII

Associated Diseases

Factor VII Deficiency
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OMIM Number

613878

NCBI Gene ID

2155

Uniprot ID

P08709

Length

14,894 bases

No. of Exons

10

No. of isoforms

2

Protein Name

Coagulation Factor VII

Molecular Mass

51594 Da

Amino Acid Count

466

Genomic Location

chr13:113,105,788-113,120,681

Gene Map Locus
13q34

Description

The F7 gene encodes a vitamin-K dependant blood clotting factor with serine-type endopeptidase activity. 
 

Epidemiology in the Arab World

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Variant NameCountryGenomic LocationClinvar Clinical SignificanceCTGA Clinical Significance Condition(s)HGVS ExpressionsdbSNPClinvar
NC_000013.11:g.113105440A>GLebanonchr13:113105440Uncertain SignificanceFactor VII DeficiencyNG_009262.1:g.4650A>G510317
NC_000013.11:g.113105517_113105518insCCTATATCCTArabchr13:113105517-113105518Risk factorUncertain SignificanceFactor VII DeficiencyNG_009262.1:g.4727_4728insCCTATATCCT574291012079
NC_000013.11:g.113113080A>GTunisiachr13:113113080Uncertain SignificanceFactor VII DeficiencyNG_009262.1:g.12290A>G12431329
NM_000131.4:c.1074G>A Arabchr13:113118681PathogenicFactor VII DeficiencyNG_009262.1:g.17891G>A; NM_000131.4:c.1074G>A ; NP_000122.1:p.Met358Ile149283257
NM_000131.4:c.1238G>A Arabchr13:113118845Benign, Risk factorUncertain SignificanceFactor VII DeficiencyNG_009262.1:g.18055G>A; NM_000131.4:c.1238G>A ; NP_000122.1:p.Arg413Gln604612080
NM_000131.4:c.131-394T>CLebanonchr13:113110296Uncertain SignificanceFactor VII DeficiencyNG_009262.1:g.9506T>C; NM_000131.4:c.131-394T>C1745939
NM_000131.4:c.291+1G>CLebanonNC_000013.11:g.113110851G>CPathogenicFactor VII DeficiencyNG_009262.1:g.10061G>C; NM_000131.4:c.291+1G>C1566906827
NM_000131.4:c.571+78G>AArab; Lebanon; Tunisiachr13:113115878PathogenicFactor VII DeficiencyNG_009262.1:g.15088G>A; NM_000131.4:c.571+78G>A764741909
NM_000131.4:c.572-392C>GArabchr13:113116374PathogenicFactor VII DeficiencyNG_009262.1:g.15584C>G; NM_000131.4:c.572-392C>G
NM_000131.4:c.64+196G>ALebanonchr13:113106101Uncertain SignificanceFactor VII DeficiencyNG_009262.1:g.5311G>A; NM_000131.4:c.64+196G>A2774030
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