NM_000128.3(F11):c.1079T>C (p.Leu360Pro) 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:
RCV000059003.1

Allele description [Variation Report for NM_000128.3(F11):c.1079T>C (p.Leu360Pro)]

NM_000128.3(F11):c.1079T>C (p.Leu360Pro)

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.1079T>C (p.Leu360Pro)
HGVS:
  • NC_000004.12:g.186280524T>C
  • NG_008051.1:g.19561T>C
  • NM_000128.3:c.1079T>C
  • NP_000119.1:p.Leu360Pro
  • LRG_583t1:c.1079T>C
  • LRG_583:g.19561T>C
  • LRG_583p1:p.Leu360Pro
  • NC_000004.11:g.187201678T>C
  • P03951:p.Leu360Pro
Protein change:
L360P
Links:
UniProtKB: P03951#VAR_067944; UniProtKB/Swiss-Prot: VAR_067944; dbSNP: rs281875254
NCBI 1000 Genomes Browser:
rs281875254
Molecular consequence:
  • NM_000128.3:c.1079T>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
SCV000090524UniProtKB/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

Seven novel point mutations in the F11 gene in Iranian FXI-deficient patients.

Fard-Esfahani P, Lari GR, Ravanbod S, Mirkhani F, Allahyari M, Rassoulzadegan M, Ala F.

Haemophilia. 2008 Jan;14(1):91-5. Epub 2007 Nov 13.

PubMed [citation]
PMID:
18005151

Details of each submission

From UniProtKB/Swiss-Prot, SCV000090524.1

#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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