NM_000128.3(F11):c.1442T>G (p.Ile481Ser) 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:
RCV000059009.1

Allele description [Variation Report for NM_000128.3(F11):c.1442T>G (p.Ile481Ser)]

NM_000128.3(F11):c.1442T>G (p.Ile481Ser)

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.1442T>G (p.Ile481Ser)
HGVS:
  • NC_000004.12:g.186285775T>G
  • NG_008051.1:g.24812T>G
  • NM_000128.3:c.1442T>G
  • NP_000119.1:p.Ile481Ser
  • LRG_583t1:c.1442T>G
  • LRG_583:g.24812T>G
  • LRG_583p1:p.Ile481Ser
  • NC_000004.11:g.187206929T>G
  • P03951:p.Ile481Ser
Protein change:
I481S
Links:
UniProtKB: P03951#VAR_067948; UniProtKB/Swiss-Prot: VAR_067948; dbSNP: rs281875242
NCBI 1000 Genomes Browser:
rs281875242
Molecular consequence:
  • NM_000128.3:c.1442T>G - 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
SCV000090530UniProtKB/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 a novel F11 missense mutation (Ile463Ser) in a family with congenital factor XI deficiency.

Tirefort Y, Uhr MR, Neerman-Arbez M, de Moerloose P.

Blood Coagul Fibrinolysis. 2012 Apr;23(3):251-2. doi: 10.1097/MBC.0b013e32834ea02a.

PubMed [citation]
PMID:
22322133

Details of each submission

From UniProtKB/Swiss-Prot, SCV000090530.1

#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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