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F9, EX2-8DEL AND Hereditary factor IX deficiency disease

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Oct 9, 2017
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:
RCV000011377.5

Allele description [Variation Report for F9, EX2-8DEL]

F9, EX2-8DEL

Gene:
F9:coagulation factor IX [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
Xq27.1-q27.2
Preferred name:
F9, EX2-8DEL
Other names:
F9, EX2-8DEL
HGVS:
    Nucleotide change:
    EX2-8DEL
    Links:
    OMIM: 300746.0075

    Condition(s)

    Name:
    Hereditary factor IX deficiency disease (HEMB)
    Synonyms:
    F9 DEFICIENCY; PLASMA THROMBOPLASTIN COMPONENT DEFICIENCY; Hemophilia B; See all synonyms [MedGen]
    Identifiers:
    MONDO: MONDO:0010604; MeSH: D002836; MedGen: C0008533; Orphanet: 98879; OMIM: 306900

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    Assertion and evidence details

    Help
    Submission AccessionSubmitterReview Status
    (Assertion method)    		Clinical Significance
    (Last evaluated)    		OriginMethodCitations
    SCV000031609OMIM
    no assertion criteria provided
    		Pathogenic
    (Oct 9, 2017)     		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

    Three point mutations in the factor IX genes of five hemophilia B patients. Identification strategy using localization by altered epitopes in their hemophilic proteins.

    Chen SH, Thompson AR, Zhang M, Scott CR.

    J Clin Invest. 1989 Jul;84(1):113-8.

    PubMed [citation]
    PMID:
    2472424
    PMCID:
    PMC303960

    Details of each submission

    From OMIM, SCV000031609.2

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

    Description

    Information was provided by Chen and Thompson (1989). The hemophilia (306900) was severe and was associated with serum inhibitors.

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

    Last Updated: Aug 19, 2023