NM_000128.3(F11):c.127G>A (p.Ala43Thr) 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:
RCV000059006.1

Allele description [Variation Report for NM_000128.3(F11):c.127G>A (p.Ala43Thr)]

NM_000128.3(F11):c.127G>A (p.Ala43Thr)

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.127G>A (p.Ala43Thr)
HGVS:
  • NC_000004.12:g.186271680G>A
  • NG_008051.1:g.10717G>A
  • NM_000128.3:c.127G>A
  • NM_001354804.2:c.127G>A
  • NP_000119.1:p.Ala43Thr
  • NP_001341733.1:p.Ala43Thr
  • LRG_583t1:c.127G>A
  • LRG_583:g.10717G>A
  • LRG_583p1:p.Ala43Thr
  • NC_000004.11:g.187192834G>A
  • P03951:p.Ala43Thr
Protein change:
A43T
Links:
UniProtKB: P03951#VAR_067930; UniProtKB/Swiss-Prot: VAR_067930; dbSNP: rs281875264
NCBI 1000 Genomes Browser:
rs281875264
Molecular consequence:
  • NM_000128.3:c.127G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354804.2:c.127G>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
SCV000090527UniProtKB/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

Three dominant-negative mutations in factor XI-deficient patients.

Dai L, Rangarajan S, Mitchell M.

Haemophilia. 2011 Sep;17(5):e919-22. doi: 10.1111/j.1365-2516.2011.02519.x. Epub 2011 Apr 3.

PubMed [citation]
PMID:
21457405

Details of each submission

From UniProtKB/Swiss-Prot, SCV000090527.1

#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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