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NM_000128.4(F11):c.755G>C (p.Arg252Thr) 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:
RCV000059031.1

Allele description [Variation Report for NM_000128.4(F11):c.755G>C (p.Arg252Thr)]

NM_000128.4(F11):c.755G>C (p.Arg252Thr)

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.755G>C (p.Arg252Thr)
HGVS:
  • NC_000004.12:g.186276390G>C
  • NG_008051.1:g.15427G>C
  • NM_000128.4:c.755G>CMANE SELECT
  • NP_000119.1:p.Arg252Thr
  • NP_000119.1:p.Arg252Thr
  • LRG_583t1:c.755G>C
  • LRG_583:g.15427G>C
  • LRG_583p1:p.Arg252Thr
  • NC_000004.11:g.187197544G>C
  • NM_000128.3:c.755G>C
  • P03951:p.Arg252Thr
Protein change:
R252T
Links:
UniProtKB: P03951#VAR_067939; UniProtKB/Swiss-Prot: VAR_067939; dbSNP: rs281875260
NCBI 1000 Genomes Browser:
rs281875260
Molecular consequence:
  • NM_000128.4:c.755G>C - 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
SCV000090552UniProtKB/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

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, SCV000090552.1

#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