NM_000128.3(F11):c.419G>A (p.Cys140Tyr) 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:
RCV000059025.1

Allele description [Variation Report for NM_000128.3(F11):c.419G>A (p.Cys140Tyr)]

NM_000128.3(F11):c.419G>A (p.Cys140Tyr)

Gene:
F11:coagulation factor XI [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
4q35.2
Genomic location:
Preferred name:
NM_000128.3(F11):c.419G>A (p.Cys140Tyr)
HGVS:
  • NC_000004.12:g.186274209G>A
  • NG_008051.1:g.13246G>A
  • NM_000128.3:c.419G>A
  • NM_001354804.2:c.419G>A
  • NP_000119.1:p.Cys140Tyr
  • NP_001341733.1:p.Cys140Tyr
  • LRG_583t1:c.419G>A
  • LRG_583:g.13246G>A
  • LRG_583p1:p.Cys140Tyr
  • NC_000004.11:g.187195363G>A
  • P03951:p.Cys140Tyr
Protein change:
C140Y
Links:
UniProtKB: P03951#VAR_067935; UniProtKB/Swiss-Prot: VAR_067935; dbSNP: rs281875256
NCBI 1000 Genomes Browser:
rs281875256
Molecular consequence:
  • NM_000128.3:c.419G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354804.2:c.419G>A - 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
SCV000090546UniProtKB/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

Identification of five novel mutations in the factor XI gene (F11) of patients with factor XI deficiency.

Quélin F, Mathonnet F, Potentini-Esnault C, Trigui N, Peynet J, Bastenaire B, Guillon L, Bigel ML, Sauger A, Mazurier C, de Mazancourt P.

Blood Coagul Fibrinolysis. 2006 Jan;17(1):69-73.

PubMed [citation]
PMID:
16607084

Details of each submission

From UniProtKB/Swiss-Prot, SCV000090546.1

#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: Nov 2, 2019

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