NM_000128.3(F11):c.841C>T (p.Gln281Ter) AND Hereditary factor XI deficiency disease

Clinical significance:Pathogenic (Last evaluated: Oct 31, 2018)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000763124.1

Allele description [Variation Report for NM_000128.3(F11):c.841C>T (p.Gln281Ter)]

NM_000128.3(F11):c.841C>T (p.Gln281Ter)

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.841C>T (p.Gln281Ter)
HGVS:
  • NC_000004.12:g.186280097C>T
  • NG_008051.1:g.19134C>T
  • NM_000128.3:c.841C>T
  • NP_000119.1:p.Gln281Ter
  • LRG_583t1:c.841C>T
  • LRG_583:g.19134C>T
  • LRG_583p1:p.Gln281Ter
  • NC_000004.11:g.187201251C>T
Protein change:
Q281*
Links:
dbSNP: rs770505620
NCBI 1000 Genomes Browser:
rs770505620
Molecular consequence:
  • NM_000128.3:c.841C>T - nonsense - [Sequence Ontology: SO:0001587]

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
SCV000893672Fulgent Genetics,Fulgent Geneticscriteria provided, single submitter
Pathogenic
(Oct 31, 2018)
unknownclinical testing

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

Summary from all submissions

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

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753

Details of each submission

From Fulgent Genetics,Fulgent Genetics, SCV000893672.1

#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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