NM_000132.4(F8):c.5593G>A (p.Asp1865Asn) AND Hereditary factor VIII deficiency disease

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Jan 1, 1995
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:: RCV000010999.4

Allele description [Variation Report for NM_000132.4(F8):c.5593G>A (p.Asp1865Asn)]

NM_000132.4(F8):c.5593G>A (p.Asp1865Asn)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

Xq28

Genomic location:

Preferred name:

NM_000132.4(F8):c.5593G>A (p.Asp1865Asn)

Other names:

F8, ASP1846ASN; D1846N

HGVS:

NC_000023.11:g.154904518C>T
NG_011403.2:g.123206G>A
NM_000132.4:c.5593G>AMANE SELECT
NP_000123.1:p.Asp1865Asn
LRG_555t1:c.5593G>A
LRG_555:g.123206G>A
LRG_555p1:p.Asp1865Asn
NC_000023.10:g.154132793C>T
NG_011403.1:g.123206G>A
P00451:p.Asp1865Asn

Protein change:

D1865N; ASP1846ASN

Links:

UniProtKB: P00451#VAR_001160; OMIM: 300841.0203; dbSNP: rs28933678

NCBI 1000 Genomes Browser:

rs28933678

Molecular consequence:

NM_000132.4:c.5593G>A - missense variant - [Sequence Ontology: SO:0001583]

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
SCV000031226	OMIM	no assertion criteria provided	Pathogenic (Jan 1, 1995)	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

SCV000031226

OMIM

no assertion criteria provided

Pathogenic
(Jan 1, 1995)

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

Molecular etiology of factor VIII deficiency in hemophilia A.

Antonarakis SE, Kazazian HH, Tuddenham EG.

Hum Mutat. 1995;5(1):1-22. Review.

PubMed [citation]

PMID:: 7728145

Details of each submission

From OMIM, SCV000031226.1

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

Description

Antonarakis et al. (1995) reported this mutation in a patient with less than 1% factor VIII activity and severe hemophilia A (306700). The mutation was caused by a GAT-to-AAT transition at codon 1846 in exon 17 of the A3 domain, resulting in asparagine for aspartic acid-1846.

#	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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