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NM_001312675.2(F10):c.*138C>T AND Factor X deficiency

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Jan 15, 1991
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV000012837.3

Allele description [Variation Report for NM_001312675.2(F10):c.*138C>T]

NM_001312675.2(F10):c.*138C>T

Gene:
F10:coagulation factor X [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
13q34
Preferred name:
NM_001312675.2(F10):c.*138C>T
Other names:
F10, PRO343SER; P343S; factor X Friuli
HGVS:
  • NC_000013.11:g.113149197C>T
  • NG_009258.1:g.31399C>T
  • NM_000504.4:c.1147C>TMANE SELECT
  • NM_001312674.2:c.1015C>T
  • NM_001312675.2:c.*138C>T
  • NP_000495.1:p.Pro383Ser
  • NP_001299603.1:p.Pro339Ser
  • LRG_548t1:c.1147C>T
  • LRG_548:g.31399C>T
  • NC_000013.10:g.113803511C>T
  • NM_000504.3:c.1147C>T
Note:
NCBI staff provided an HGVS expression for this allele from the autoradiograph in Figure 1 of the paper by James et al., 1991 (PubMed 1985698).
Protein change:
P339S; PRO343SER
Links:
OMIM: 613872.0004; dbSNP: rs121964940

Condition(s)

Name:
Factor X deficiency
Synonyms:
F10 DEFICIENCY
Identifiers:
MONDO: MONDO:0002247; MeSH: D005171; MedGen: C0015519

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000033077OMIM
no assertion criteria provided
Pathogenic
(Jan 15, 1991) 		germlineliterature only

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot providednot providednot providednot providednot providednot providedliterature only

Citations

PubMed

Molecular defect in coagulation factor XFriuli results from a substitution of serine for proline at position 343.

James HL, Girolami A, Fair DS.

Blood. 1991 Jan 15;77(2):317-23.

PubMed [citation]
PMID:
1985698

Details of each submission

From OMIM, SCV000033077.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (1)

Description

In patients with factor X deficiency (227600) from the Friuli region of Italy, James et al. (1991) identified a homozygous C-to-T transition in the F10 gene, resulting in a pro343-to-ser (P343S) substitution. Affected individuals had a moderate bleeding tendency since early childhood, with epistaxis, bleeding from the gums, posttraumatic hemarthroses, and bleeding after dental extractions and other surgical procedures. Laboratory studies showed prolonged prothrombin and partial thromboplastin clotting times, and factor X activity levels between 4 to 9% of normal. However, there were near-normal clotting times in the presence of Russell viper venom, and plasma contained normal levels of factor X antigen. Heterozygotes had intermediate levels of factor X and were usually asymptomatic.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenot providednot providednot providednot providednot providednot providednot providednot provided

Last Updated: Dec 24, 2023