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NM_005141.4(FGB):c.1093G>A (p.Ala365Thr) AND FIBRINOGEN PONTOISE 2

Germline classification:
other (1 submission)
Last evaluated:
Oct 11, 2011
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:
RCV000017807.1

Allele description [Variation Report for NM_005141.4(FGB):c.1093G>A (p.Ala365Thr)]

NM_005141.4(FGB):c.1093G>A (p.Ala365Thr)

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.1093G>A (p.Ala365Thr)
Other names:
A335T
HGVS:
  • NC_000004.12:g.154569648G>A
  • NG_008833.1:g.11669G>A
  • NM_001184741.1:c.916G>A
  • NM_001382759.1:c.961G>A
  • NM_001382760.1:c.1093G>A
  • NM_001382761.1:c.1093G>A
  • NM_001382762.1:c.793G>A
  • NM_001382763.1:c.1084G>A
  • NM_001382764.1:c.1080+13G>A
  • NM_001382765.1:c.1093G>A
  • NM_005141.5:c.1093G>AMANE SELECT
  • NP_001171670.1:p.Ala306Thr
  • NP_001369688.1:p.Ala321Thr
  • NP_001369689.1:p.Ala365Thr
  • NP_001369690.1:p.Ala365Thr
  • NP_001369691.1:p.Ala265Thr
  • NP_001369692.1:p.Ala362Thr
  • NP_001369694.1:p.Ala365Thr
  • NP_005132.2:p.Ala365Thr
  • LRG_558:g.11669G>A
  • NC_000004.11:g.155490800G>A
  • P02675:p.Ala365Thr
Protein change:
A265T; ALA335THR
Links:
UniProtKB: P02675#VAR_002407; OMIM: 134830.0003; dbSNP: rs121909617
NCBI 1000 Genomes Browser:
rs121909617
Molecular consequence:
  • NM_001382764.1:c.1080+13G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001184741.1:c.916G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001382759.1:c.961G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001382760.1:c.1093G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001382761.1:c.1093G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001382762.1:c.793G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001382763.1:c.1084G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001382765.1:c.1093G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_005141.5:c.1093G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
FIBRINOGEN PONTOISE 2
Identifiers:

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000038086OMIM
no assertion criteria provided
other
(Oct 11, 2011) 		germlineliterature only

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

Details of each submission

From OMIM, SCV000038086.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature onlynot provided

Description

See Kaudewitz et al. (1986).

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

Last Updated: Apr 23, 2022