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NM_000132.4(F8):c.6518C>T (p.Thr2173Ile) AND Hereditary factor VIII deficiency disease

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Jan 1, 1992
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:
RCV000011030.4

Allele description [Variation Report for NM_000132.4(F8):c.6518C>T (p.Thr2173Ile)]

NM_000132.4(F8):c.6518C>T (p.Thr2173Ile)

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.6518C>T (p.Thr2173Ile)
Other names:
F8, THR2154ILE; T2154I
HGVS:
  • NC_000023.11:g.154863139G>A
  • NG_011403.2:g.164585C>T
  • NM_000132.4:c.6518C>TMANE SELECT
  • NM_019863.3:c.113C>T
  • NP_000123.1:p.Thr2173Ile
  • NP_063916.1:p.Thr38Ile
  • LRG_555t1:c.6518C>T
  • LRG_555:g.164585C>T
  • LRG_555p1:p.Thr2173Ile
  • NC_000023.10:g.154091414G>A
  • NG_011403.1:g.164585C>T
  • P00451:p.Thr2173Ile
Protein change:
T2173I; THR2154ILE
Links:
UniProtKB: P00451#VAR_001189; OMIM: 300841.0233; dbSNP: rs137852463
NCBI 1000 Genomes Browser:
rs137852463
Molecular consequence:
  • NM_000132.4:c.6518C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_019863.3:c.113C>T - 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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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000031257OMIM
no assertion criteria provided
Pathogenic
(Jan 1, 1992) 		germlineliterature only

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot providednot providednot providednot providednot providednot providedliterature only

Citations

PubMed

Missense mutations causing mild hemophilia A in Iceland detected by denaturing gradient gel electrophoresis.

Jonsdottir S, Diamond C, Levinson B, Magnusson S, Jensson O, Gitschier J.

Hum Mutat. 1992;1(6):506-8. No abstract available.

PubMed [citation]
PMID:
1301960

Details of each submission

From OMIM, SCV000031257.2

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

Description

Jonsdottir et al. (1992) found this mutation in a patient with 6% factor VIII activity and mild hemophilia A (306700). The mutation was caused by an ACT-to-ATT transition at codon 2154 in exon 23 of the C1 domain, resulting in isoleucine for threonine-2154.

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

Last Updated: Oct 26, 2024