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F8, EX5DEL AND Hereditary factor VIII deficiency disease

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Jan 1, 1990
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:
RCV000010848.6

Allele description [Variation Report for F8, EX5DEL]

F8, EX5DEL

Gene:
F8:coagulation factor VIII [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
Xq28
Preferred name:
F8, EX5DEL
Other names:
F8, EX5DEL
HGVS:
    Nucleotide change:
    EX5DEL
    Links:
    OMIM: 300841.0051

    Condition(s)

    Name:
    Hereditary factor VIII deficiency disease (HEMA)
    Synonyms:
    Hemophilia A; Hemophilia A, congenital; Hemophilia, classic; See all synonyms [MedGen]
    Identifiers:
    MONDO: MONDO:0010602; MedGen: C0019069; Orphanet: 98878; OMIM: 306700

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    Assertion and evidence details

    Help
    Submission AccessionSubmitterReview Status
    (Assertion method)    		Clinical Significance
    (Last evaluated)    		OriginMethodCitations
    SCV000031075OMIM
    no assertion criteria provided
    		Pathogenic
    (Jan 1, 1990)     		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 analysis of hemophilia A mutations in the Finnish population.

    Levinson B, Lehesjoki AE, de la Chapelle A, Gitschier J.

    Am J Hum Genet. 1990 Jan;46(1):53-62.

    PubMed [citation]
    PMID:
    2104741
    PMCID:
    PMC1683555

    Details of each submission

    From OMIM, SCV000031075.1

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

    Description

    In a patient with severe hemophilia A (306700), Levinson et al. (1990) found a 3- to 6-kb deletion removing exon 5.

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

    Last Updated: Jan 21, 2023