NM_000128.4(F11):c.1201T>C (p.Trp401Arg) 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:
RCV000059004.1

Allele description [Variation Report for NM_000128.4(F11):c.1201T>C (p.Trp401Arg)]

NM_000128.4(F11):c.1201T>C (p.Trp401Arg)

Gene:
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.1201T>C (p.Trp401Arg)
HGVS:
  • NC_000004.12:g.186284157T>C
  • NG_008051.1:g.23194T>C
  • NM_000128.3:c.1201T>C
  • NM_000128.4:c.1201T>CMANE SELECT
  • NP_000119.1:p.Trp401Arg
  • NP_000119.1:p.Trp401Arg
  • LRG_583t1:c.1201T>C
  • LRG_583:g.23194T>C
  • LRG_583p1:p.Trp401Arg
  • NC_000004.11:g.187205311T>C
  • P03951:p.Trp401Arg
Protein change:
W401R
Links:
UniProtKB: P03951#VAR_067945; UniProtKB/Swiss-Prot: VAR_067945; dbSNP: rs281875262
NCBI 1000 Genomes Browser:
rs281875262
Molecular consequence:
  • NM_000128.3:c.1201T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_000128.4:c.1201T>C - 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
SCV000090525UniProtKB/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

Population-specific spectrum of the F11 mutations in Koreans: evidence for a founder effect.

Kim J, Song J, Lyu CJ, Kim YR, Oh SH, Choi YC, Yoo JH, Choi JR, Kim H, Lee KA.

Clin Genet. 2012 Aug;82(2):180-6. doi: 10.1111/j.1399-0004.2011.01732.x. Epub 2011 Jun 30.

PubMed [citation]
PMID:
21668437

Details of each submission

From UniProtKB/Swiss-Prot, SCV000090525.1

#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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