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NM_005141.4(FGB):c.130C>T (p.Arg44Cys) AND FIBRINOGEN CHRISTCHURCH 2

Germline classification:
other (1 submission)
Last evaluated:
Mar 29, 2018
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:
RCV000017804.8

Allele description [Variation Report for NM_005141.4(FGB):c.130C>T (p.Arg44Cys)]

NM_005141.4(FGB):c.130C>T (p.Arg44Cys)

Gene:
FGB:fibrinogen beta chain [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
4q31.3
Genomic location:
Preferred name:
NM_005141.4(FGB):c.130C>T (p.Arg44Cys)
Other names:
R14C; FIBRINOGEN SEATTLE 1; FIBRINOGEN IJmuiden
HGVS:
  • NC_000004.12:g.154565823C>T
  • NG_008833.1:g.7844C>T
  • NM_001184741.1:c.130C>T
  • NM_001382759.1:c.130C>T
  • NM_001382760.1:c.130C>T
  • NM_001382761.1:c.130C>T
  • NM_001382762.1:c.130C>T
  • NM_001382763.1:c.130C>T
  • NM_001382764.1:c.130C>T
  • NM_001382765.1:c.130C>T
  • NM_005141.5:c.130C>TMANE SELECT
  • NP_001171670.1:p.Arg44Cys
  • NP_001369688.1:p.Arg44Cys
  • NP_001369689.1:p.Arg44Cys
  • NP_001369690.1:p.Arg44Cys
  • NP_001369691.1:p.Arg44Cys
  • NP_001369692.1:p.Arg44Cys
  • NP_001369693.1:p.Arg44Cys
  • NP_001369694.1:p.Arg44Cys
  • NP_005132.2:p.Arg44Cys
  • NP_005132.2:p.Arg44Cys
  • LRG_558t1:c.130C>T
  • LRG_558:g.7844C>T
  • LRG_558p1:p.Arg44Cys
  • NC_000004.11:g.155486975C>T
  • NM_005141.4:c.130C>T
  • P02675:p.Arg44Cys
Note:
NCBI staff reviewed the sequence information reported in PubMed 1565641 to determine the location of this allele on current reference sequence.
Protein change:
R44C; ARG14CYS
Links:
UniProtKB: P02675#VAR_002403; OMIM: 134830.0002; dbSNP: rs121909616
NCBI 1000 Genomes Browser:
rs121909616
Molecular consequence:
  • NM_001184741.1:c.130C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001382759.1:c.130C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001382760.1:c.130C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001382761.1:c.130C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001382762.1:c.130C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001382763.1:c.130C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001382764.1:c.130C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001382765.1:c.130C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_005141.5:c.130C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
FIBRINOGEN CHRISTCHURCH 2
Identifiers:

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000038083OMIM
no assertion criteria provided
other
(Mar 29, 2018) 		germlineliterature only

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

Kaudewitz, H., Henschen, A., Soria, C., Soria, J., Bertrand, O., Heaton, D. The molecular defect of the genetically abnormal fibrinogen Christchurch II. In: Muller-Berghaus, G., Scheefers-Borchel, V., Selmayr, E., Henschen, A. Fibrinogen and Its Derivatives. Amsterdam: Elsevier (pub.) 31-36, 1986.

Help

Summary from all submissions

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

Citations

PubMed

Abnormal fibrinogens IJmuiden (B beta Arg14----Cys) and Nijmegen (B beta Arg44----Cys) form disulfide-linked fibrinogen-albumin complexes.

Koopman J, Haverkate F, Grimbergen J, Engesser L, Nováková I, Kerst AF, Lord ST.

Proc Natl Acad Sci U S A. 1992 Apr 15;89(8):3478-82.

PubMed [citation]
PMID:
1565641
PMCID:
PMC48891

Details of each submission

From OMIM, SCV000038083.5

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

Description

See Kaudewitz et al. (1986) and Pirkle et al. (1987). By sequence analysis of PCR-amplified genomic DNA, Koopman et al. (1992) demonstrated that the defect in fibrinogen IJmuiden is also an arg14-to-cys (R14C) substitution in the beta polypeptide. They demonstrated that in the heterozygous individual some of the abnormal molecules were linked by disulfide bonds to albumin. Fibrinogen-albumin and abnormally high molecular weight fibrinogen complexes were detected in the patient's plasma. Of the total plasma fibrinogen in the IJmuiden patient, 20% was linked to albumin and 10% was present as high molecular weight complexes. (According to Lord (1992), IJmuiden is the Dutch town in which the patients with the anomalous fibrinogen lived. The double capitals are the anglicized version of a single Dutch letter which resembles a capital script 'Y' with a dot over each arm. The letter is pronounced like the 'i' in life.)

This variant has also been called fibrinogen Seattle I.

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

Last Updated: Oct 26, 2024