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NM_000132.4(F8):c.2029T>C (p.Phe677Leu) 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:
RCV000010957.3

Allele description [Variation Report for NM_000132.4(F8):c.2029T>C (p.Phe677Leu)]

NM_000132.4(F8):c.2029T>C (p.Phe677Leu)

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.2029T>C (p.Phe677Leu)
Other names:
F8, PHE677LEU
HGVS:
  • NC_000023.11:g.154947782A>G
  • NG_011403.1:g.79942T>C
  • NG_011403.2:g.79942T>C
  • NM_000132.4:c.2029T>CMANE SELECT
  • NP_000123.1:p.Phe677Leu
  • NP_000123.1:p.Phe677Leu
  • LRG_555t1:c.2029T>C
  • LRG_555:g.79942T>C
  • LRG_555p1:p.Phe677Leu
  • NC_000023.10:g.154176057A>G
  • NM_000132.3:c.2029T>C
  • P00451:p.Phe677Leu
Protein change:
F677L; PHE677LEU
Links:
UniProtKB: P00451#VAR_001128; OMIM: 300841.0161; dbSNP: rs137852434
NCBI 1000 Genomes Browser:
rs137852434
Molecular consequence:
  • NM_000132.4:c.2029T>C - missense variant - [Sequence Ontology: SO:0001583]

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
SCV000031184OMIM
no assertion criteria provided
Pathogenic
(Jan 1, 1995) 		germlineliterature only

PubMed (2)
[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 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

Structure of human factor VIII.

Vehar GA, Keyt B, Eaton D, Rodriguez H, O'Brien DP, Rotblat F, Oppermann H, Keck R, Wood WI, Harkins RN, Tuddenham EG, Lawn RM, Capon DJ.

Nature. 1984 Nov 22-28;312(5992):337-42.

PubMed [citation]
PMID:
6438527

Details of each submission

From OMIM, SCV000031184.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (2)

Description

Antonarakis et al. (1995) reported this mutation in a patient with 5.1% factor VIII activity, 50.5% factor VIII antigen, and moderate hemophilia A (306700). The mutation is caused by a TTC-to-CTC transition at codon 658 in exon 13 of the A2 domain, resulting in leucine for phenylalanine-658. Including the 19-amino acid signal peptide of the F8 gene (Vehar et al., 1984), this mutation is designated phe677-to-leu (F677L).

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

Last Updated: Apr 23, 2022