NM_000132.4(F8):c.5374-224_5453delinsT AND Hereditary factor VIII deficiency disease

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Mar 1, 1993
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:: RCV000011059.3

Allele description [Variation Report for NM_000132.4(F8):c.5374-224_5453delinsT]

NM_000132.4(F8):c.5374-224_5453delinsT

Gene:

F8:coagulation factor VIII [Gene - OMIM - HGNC]

Variant type:

Indel

Cytogenetic location:

Xq28

Genomic location:

Preferred name:

NM_000132.4(F8):c.5374-224_5453delinsT

Other names:

F8, EX16DEL

HGVS:

NC_000023.11:g.154904944_154905247delinsA
NG_011403.2:g.122477_122780delinsT
NM_000132.4:c.5374-224_5453delinsTMANE SELECT
LRG_555t1:c.5374-224_5453delinsT
LRG_555:g.122477_122780delinsT
NC_000023.10:g.154133219_154133522delinsA

Nucleotide change:

EX16DEL

Links:

LOVD 3: F8_001381; OMIM: 300841.0263

Molecular consequence:

NM_000132.4:c.5374-224_5453delinsT - splice acceptor variant - [Sequence Ontology: SO:0001574]

Condition(s)

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

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000031286	OMIM	no assertion criteria provided	Pathogenic (Mar 1, 1993)	germline	literature only	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000031286

OMIM

no assertion criteria provided

Pathogenic
(Mar 1, 1993)

germline

literature only

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

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	not provided	not provided	not provided	not provided	not provided	not provided	literature only

Citations

PubMed

Mutations in haemophilia A.

Schwaab R, Oldenburg J, Tuddenham EG, Brackmann HH, Olek K.

Br J Haematol. 1993 Mar;83(3):450-8.

PubMed [citation]

PMID:: 8485051

Details of each submission

From OMIM, SCV000031286.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	literature only	PubMed (1)

Description

In a patient with severe hemophilia A (306700) (patient HD10), Schwaab et al. (1993) found a deletion of exon 16 of the factor VIII gene.

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	not provided	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Oct 26, 2024

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