NM_000128.4(F11):c.1541G>T (p.Cys514Phe) AND not provided

Clinical significance:not provided

Review status:(0/4) 0 stars out of maximum of 4 stars

no assertion provided

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000059015.1

Allele description [Variation Report for NM_000128.4(F11):c.1541G>T (p.Cys514Phe)]

NM_000128.4(F11):c.1541G>T (p.Cys514Phe)

Genes:
F11-AS1:F11 antisense RNA 1 [Gene - HGNC]
F11:coagulation factor XI [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
4q35.2
Genomic location:
Preferred name:
NM_000128.4(F11):c.1541G>T (p.Cys514Phe)
HGVS:
  • NC_000004.12:g.186286475G>T
  • NG_008051.1:g.25512G>T
  • NM_000128.3:c.1541G>T
  • NM_000128.4:c.1541G>TMANE SELECT
  • NP_000119.1:p.Cys514Phe
  • NP_000119.1:p.Cys514Phe
  • LRG_583t1:c.1541G>T
  • LRG_583:g.25512G>T
  • LRG_583p1:p.Cys514Phe
  • NC_000004.11:g.187207629G>T
  • P03951:p.Cys514Phe
Protein change:
C514F
Links:
UniProtKB: P03951#VAR_067951; UniProtKB/Swiss-Prot: VAR_067951; dbSNP: rs281875249
NCBI 1000 Genomes Browser:
rs281875249
Molecular consequence:
  • NM_000128.3:c.1541G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_000128.4:c.1541G>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Identifiers:
MedGen: CN517202

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000090536UniProtKB/Swiss-Protno assertion providednot providednot providednot provided

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

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providednot providednot providednot providednot providednot provided1not providedliterature only

Citations

PubMed

Revisiting the molecular epidemiology of factor XI deficiency: nine new mutations and an original large 4qTer deletion in western Brittany (France).

Guéguen P, Chauvin A, Quémener-Redon S, Pan-Petesch B, Férec C, Abgrall JF, Le Maréchal C.

Thromb Haemost. 2012 Jan;107(1):44-50. doi: 10.1160/TH11-06-0415. Epub 2011 Dec 8.

PubMed [citation]
PMID:
22159456
PMCID:
PMC3399784

Details of each submission

From UniProtKB/Swiss-Prot, SCV000090536.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providednot provided PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1not providednot provided1not providednot providednot providednot providednot providednot provided

Last Updated: Oct 25, 2021

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