U.S. flag

An official website of the United States government

NM_000132.3(F8):c.1834C>T (p.Arg612Cys) 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:
RCV000010949.6

Allele description

NM_000132.3(F8):c.1834C>T (p.Arg612Cys)

Gene:
F8:coagulation factor VIII [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
Xq28
Genomic location:
Preferred name:
NM_000132.3(F8):c.1834C>T (p.Arg612Cys)
Other names:
F8, ARG593CYS
HGVS:
  • NC_000023.11:g.154953961G>A
  • NG_011403.1:g.73763C>T
  • NM_000132.3:c.1834C>T
  • NP_000123.1:p.Arg612Cys
  • NC_000023.10:g.154182236G>A
  • P00451:p.Arg612Cys
Protein change:
R593C; ARG593CYS
Links:
UniProtKB: P00451#VAR_001120; OMIM: 300841.0153; dbSNP: rs137852428
NCBI 1000 Genomes Browser:
rs137852428
Molecular consequence:
  • NM_000132.3:c.1834C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Hereditary factor VIII deficiency disease (HEMA)
Synonyms:
HEMOPHILIA A, SEVERE; Hemophilia A
Identifiers:
MedGen: C0019069; Orphanet: 98878; OMIM: 306700

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000031176OMIM
no assertion criteria provided
Pathogenic
(Jan 1, 1995) 		germlineliterature only

PubMed (4)
[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

Molecular characterization of severe hemophilia A suggests that about half the mutations are not within the coding regions and splice junctions of the factor VIII gene.

Higuchi M, Kazazian HH Jr, Kasch L, Warren TC, McGinniss MJ, Phillips JA 3rd, Kasper C, Janco R, Antonarakis SE.

Proc Natl Acad Sci U S A. 1991 Aug 15;88(16):7405-9.

PubMed [citation]
PMID:
1908096
PMCID:
PMC52304

Characteristic mRNA abnormality found in half the patients with severe haemophilia A is due to large DNA inversions.

Naylor J, Brinke A, Hassock S, Green PM, Giannelli F.

Hum Mol Genet. 1993 Nov;2(11):1773-8.

PubMed [citation]
PMID:
8281136
See all PubMed Citations (4)

Details of each submission

From OMIM, SCV000031176.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (4)

Description

Higuchi et al. (1991) found this mutation in a patient with mild to moderate hemophilia A (306700). The mutation is caused by a CGC-to-TGC transition at codon 593 in exon 12 of the A2 domain, resulting in cysteine for arginine-593. The C-to-T transition follows the rule of CG-to-TG mutations at CG dinucleotides. This mutation has also been found by others (Naylor et al., 1993 and Diamond et al., 1992; see also Antonarakis et al., 1995).

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

Last Updated: Nov 2, 2019