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NM_000128.4(F11):c.788G>A (p.Gly263Glu) AND not provided

Germline classification:
not provided (1 submission)
Review status:
no classification provided
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV000059033.1

Allele description [Variation Report for NM_000128.4(F11):c.788G>A (p.Gly263Glu)]

NM_000128.4(F11):c.788G>A (p.Gly263Glu)

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.788G>A (p.Gly263Glu)
HGVS:
  • NC_000004.12:g.186280044G>A
  • NG_008051.1:g.19081G>A
  • NM_000128.4:c.788G>AMANE SELECT
  • NP_000119.1:p.Gly263Glu
  • NP_000119.1:p.Gly263Glu
  • LRG_583t1:c.788G>A
  • LRG_583:g.19081G>A
  • LRG_583p1:p.Gly263Glu
  • NC_000004.11:g.187201198G>A
  • NM_000128.3:c.788G>A
  • P03951:p.Gly263Glu
Protein change:
G263E
Links:
UniProtKB: P03951#VAR_054899; UniProtKB/Swiss-Prot: VAR_054899; dbSNP: rs281875274
NCBI 1000 Genomes Browser:
rs281875274
Molecular consequence:
  • NM_000128.4:c.788G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: CN517202

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000090554UniProtKB/Swiss-Prot
no classification provided
not providednot providednot provided

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providednot providednot providednot providednot providednot provided1not providedliterature only

Citations

PubMed

Genetic analysis in FXI deficiency: six novel mutations and the use of a polymerase chain reaction-based test to define a whole gene deletion.

Hill M, McLeod F, Franks H, Gordon B, Dolan G.

Br J Haematol. 2005 Jun;129(6):825-9.

PubMed [citation]
PMID:
15953011

Details of each submission

From UniProtKB/Swiss-Prot, SCV000090554.1

#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: Apr 23, 2022