NM_000128.3(F11):c.188C>T (p.Ala63Val) AND Hereditary factor XI deficiency disease

Clinical significance:Uncertain significance (Last evaluated: Nov 8, 2017)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000670641.1

Allele description [Variation Report for NM_000128.3(F11):c.188C>T (p.Ala63Val)]

NM_000128.3(F11):c.188C>T (p.Ala63Val)

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.188C>T (p.Ala63Val)
HGVS:
  • NC_000004.12:g.186271741C>T
  • NG_008051.1:g.10778C>T
  • NM_000128.3:c.188C>T
  • NM_001354804.2:c.188C>T
  • NP_000119.1:p.Ala63Val
  • NP_001341733.1:p.Ala63Val
  • LRG_583t1:c.188C>T
  • LRG_583:g.10778C>T
  • LRG_583p1:p.Ala63Val
  • NC_000004.11:g.187192895C>T
  • P03951:p.Ala63Val
Protein change:
A63V
Links:
UniProtKB: P03951#VAR_067934; UniProtKB/Swiss-Prot: VAR_067934; dbSNP: rs281875244
NCBI 1000 Genomes Browser:
rs281875244
Molecular consequence:
  • NM_000128.3:c.188C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354804.2:c.188C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Hereditary factor XI deficiency disease
Synonyms:
Plasma thromboplastin antecedent deficiency; PTA deficiency; F11 deficiency; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0012897; MedGen: C0015523; Orphanet: 329; OMIM: 612416

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000795519Counsylcriteria provided, single submitter
Uncertain significance
(Nov 8, 2017)
unknownclinical testing

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

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownunknownnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

Revisiting the molecular epidemiology of factor XI deficiency: nine new mutations and an original large 4qTer deletion in western Brittany (France).

Guéguen P, Chauvin A, Quémener-Redon S, Pan-Petesch B, Férec C, Abgrall JF, Le Maréchal C.

Thromb Haemost. 2012 Jan;107(1):44-50. doi: 10.1160/TH11-06-0415. Epub 2011 Dec 8.

PubMed [citation]
PMID:
22159456
PMCID:
PMC3399784

Details of each submission

From Counsyl, SCV000795519.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Oct 7, 2021

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