NM_000132.4(F8):c.6968G>A (p.Arg2323His) 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:: RCV000011047.5

Allele description [Variation Report for NM_000132.4(F8):c.6968G>A (p.Arg2323His)]

NM_000132.4(F8):c.6968G>A (p.Arg2323His)

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.6968G>A (p.Arg2323His)

Other names:

F8, ARG2304HIS; R2304H

HGVS:

NC_000023.11:g.154837685C>T
NG_011403.2:g.190039G>A
NG_033065.1:g.1978G>A
NM_000132.4:c.6968G>AMANE SELECT
NM_019863.3:c.563G>A
NP_000123.1:p.Arg2323His
NP_000123.1:p.Arg2323His
NP_063916.1:p.Arg188His
LRG_555t1:c.6968G>A
LRG_555:g.190039G>A
LRG_555p1:p.Arg2323His
NC_000023.10:g.154065960C>T
NG_011403.1:g.190039G>A
NM_000132.3:c.6968G>A
P00451:p.Arg2323His

Protein change:

R188H; ARG2304HIS

Links:

UniProtKB: P00451#VAR_001210; OMIM: 300841.0251; dbSNP: rs137852474

NCBI 1000 Genomes Browser:

rs137852474

Molecular consequence:

NM_000132.4:c.6968G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_019863.3:c.563G>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
SCV000031274	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

SCV000031274

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, SCV000031274.1

#	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 mild hemophilia A (306700). The mutation was caused by a CGC-to-CAC transition at codon 2304 in exon 26 of the C2 domain, resulting in histidine for arginine-2304. The G-to-A transition follows the rule of CG-to-CA mutations at CG dinucleotides.

#	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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