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F8, EX26DEL AND Hereditary factor VIII deficiency disease

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Feb 1, 1989
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:
RCV000010817.6

Allele description [Variation Report for F8, EX26DEL]

F8, EX26DEL

Gene:
F8:coagulation factor VIII [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
Xq28
Preferred name:
F8, EX26DEL
Other names:
F8, EX26DEL
HGVS:
    Nucleotide change:
    EX26DEL
    Links:
    OMIM: 300841.0021

    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
    SCV000031044OMIM
    no assertion criteria provided
    		Pathogenic
    (Feb 1, 1989)     		germlineliterature only

    PubMed (3)
    [See all records that cite these PMIDs]

    Help

    Summary from all submissions

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

    Citations

    PubMed

    Nonsense and missense mutations in hemophilia A: estimate of the relative mutation rate at CG dinucleotides.

    Youssoufian H, Antonarakis SE, Bell W, Griffin AM, Kazazian HH Jr.

    Am J Hum Genet. 1988 May;42(5):718-25.

    PubMed [citation]
    PMID:
    2833855
    PMCID:
    PMC1715175

    Maternal duplication associated with gene deletion in sporadic hemophilia.

    Gitschier J.

    Am J Hum Genet. 1988 Sep;43(3):274-9.

    PubMed [citation]
    PMID:
    2901224
    PMCID:
    PMC1715375
    See all PubMed Citations (3)

    Details of each submission

    From OMIM, SCV000031044.2

    #EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
    1not providednot providednot providednot providedliterature only PubMed (3)

    Description

    In a patient with severe hemophilia A (306700) (JH26), Youssoufian et al. (1988) found deletion of exon 26. Also see Gitschier et al. (1985) and Bernardi et al. (1989).

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

    Last Updated: Jan 21, 2023