NM_000128.3(F11):c.1075del (p.Ile359fs) AND Hereditary factor XI deficiency disease

Clinical significance:Likely pathogenic (Last evaluated: Mar 18, 2014)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000169028.1

Allele description [Variation Report for NM_000128.3(F11):c.1075del (p.Ile359fs)]

NM_000128.3(F11):c.1075del (p.Ile359fs)

Gene:
F11:coagulation factor XI [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
4q35.2
Genomic location:
Preferred name:
NM_000128.3(F11):c.1075del (p.Ile359fs)
HGVS:
  • NC_000004.12:g.186280520del
  • NG_008051.1:g.19557del
  • NM_000128.3:c.1075del
  • NP_000119.1:p.Ile359fs
  • LRG_583t1:c.1075del
  • LRG_583:g.19557del
  • LRG_583p1:p.Ile359fs
  • NC_000004.11:g.187201671del
  • NC_000004.11:g.187201674del
  • NM_000128.3:c.1075delA
Protein change:
I359fs
Links:
dbSNP: rs786204429
NCBI 1000 Genomes Browser:
rs786204429
Molecular consequence:
  • NM_000128.3:c.1075del - frameshift variant - [Sequence Ontology: SO:0001589]

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
SCV000220177Counsylcriteria provided, single submitter
Likely pathogenic
(Mar 18, 2014)
unknownliterature only

PubMed (2)
[See all records that cite these PMIDs]

Counsyl Autosomal and X-linked Recessive Disease Classification criteria (2015)

Citation Link

Summary from all submissions

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

Citations

PubMed

Characterization of seven novel mutations causing factor XI deficiency.

Zucker M, Zivelin A, Landau M, Salomon O, Kenet G, Bauduer F, Samama M, Conard J, Denninger MH, Hani AS, Berruyer M, Feinstein D, Seligsohn U.

Haematologica. 2007 Oct;92(10):1375-80.

PubMed [citation]
PMID:
18024374

Molecular genetic analysis of factor XI deficiency: identification of five novel gene alterations and the origin of type II mutation in Portuguese families.

Ventura C, Santos AI, Tavares A, Gago T, Lavinha J, McVey JH, David D.

Thromb Haemost. 2000 Nov;84(5):833-40.

PubMed [citation]
PMID:
11127865

Details of each submission

From Counsyl, SCV000220177.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (2)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Oct 7, 2021

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