NM_000128.4(F11):c.-459A>G AND Plasma factor XI deficiency

Clinical significance:Uncertain significance (Last evaluated: Apr 20, 2020)

Review status:(0/4) 0 stars out of maximum of 4 stars

no assertion criteria provided

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV001280253.1

Allele description [Variation Report for NM_000128.4(F11):c.-459A>G]

NM_000128.4(F11):c.-459A>G

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.-459A>G
HGVS:
  • NC_000004.12:g.186265838A>G
  • NG_008051.1:g.4875A>G
  • NM_000128.4:c.-459A>GMANE SELECT
  • LRG_583:g.4875A>G
  • NC_000004.11:g.187186992A>G
Molecular consequence:
  • NM_000128.4:c.-459A>G - upstream transcript variant - [Sequence Ontology: SO:0001986]

Condition(s)

Name:
Plasma factor XI deficiency
Identifiers:

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001467418Natera, Inc.no assertion criteria providedUncertain significance
(Apr 20, 2020)
germlineclinical testing

Summary from all submissions

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

Details of each submission

From Natera, Inc., SCV001467418.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Jan 2, 2021

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