NM_000128.4(F11):c.1304+25_1304+28del AND Hereditary factor XI deficiency disease

Clinical significance:Likely benign (Last evaluated: Feb 7, 2018)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000672594.1

Allele description [Variation Report for NM_000128.4(F11):c.1304+25_1304+28del]

NM_000128.4(F11):c.1304+25_1304+28del

Gene:
F11:coagulation factor XI [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
4q35.2
Genomic location:
Preferred name:
NM_000128.4(F11):c.1304+25_1304+28del
HGVS:
  • NC_000004.12:g.186284285_186284288del
  • NG_008051.1:g.23322_23325del
  • NM_000128.4:c.1304+25_1304+28delMANE SELECT
  • LRG_583:g.23322_23325del
  • NC_000004.11:g.187205439_187205442del
  • NM_000128.3:c.1304+25_1304+28delAGTT
Links:
dbSNP: rs778294619
NCBI 1000 Genomes Browser:
rs778294619
Molecular consequence:
  • NM_000128.4:c.1304+25_1304+28del - intron variant - [Sequence Ontology: SO:0001627]

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
SCV000797709Counsylcriteria provided, single submitter
Likely benign
(Feb 7, 2018)
unknownclinical testing

Citation Link

Summary from all submissions

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

Details of each submission

From Counsyl, SCV000797709.1

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

Last Updated: Oct 7, 2021

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