U.S. flag

An official website of the United States government

NM_000128.4(F11):c.723C>G (p.Phe241Leu) 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:
RCV000059029.1

Allele description [Variation Report for NM_000128.4(F11):c.723C>G (p.Phe241Leu)]

NM_000128.4(F11):c.723C>G (p.Phe241Leu)

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.723C>G (p.Phe241Leu)
HGVS:
  • NC_000004.12:g.186276358C>G
  • NG_008051.1:g.15395C>G
  • NM_000128.4:c.723C>GMANE SELECT
  • NP_000119.1:p.Phe241Leu
  • NP_000119.1:p.Phe241Leu
  • LRG_583t1:c.723C>G
  • LRG_583:g.15395C>G
  • LRG_583p1:p.Phe241Leu
  • NC_000004.11:g.187197512C>G
  • NM_000128.3:c.723C>G
  • P03951:p.Phe241Leu
Protein change:
F241L
Links:
UniProtKB: P03951#VAR_067938; UniProtKB/Swiss-Prot: VAR_067938; dbSNP: rs281875265
NCBI 1000 Genomes Browser:
rs281875265
Molecular consequence:
  • NM_000128.4:c.723C>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000090550UniProtKB/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

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, SCV000090550.1

#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: Mar 30, 2024