NM_000128.4(F11):c.908del (p.Gly303fs) AND Hereditary factor XI deficiency disease

Clinical significance:Likely pathogenic (Last evaluated: Jan 16, 2015)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
2 submissions [Details]
Record status:
current
Accession:
RCV000169545.2

Allele description [Variation Report for NM_000128.4(F11):c.908del (p.Gly303fs)]

NM_000128.4(F11):c.908del (p.Gly303fs)

Gene:
F11:coagulation factor XI [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
4q35.2
Genomic location:
Preferred name:
NM_000128.4(F11):c.908del (p.Gly303fs)
HGVS:
  • NC_000004.12:g.186280265del
  • NG_008051.1:g.19302del
  • NM_000128.4:c.908delMANE SELECT
  • NP_000119.1:p.Gly303fs
  • LRG_583:g.19302del
  • NC_000004.11:g.187201417del
  • NC_000004.11:g.187201419del
  • NM_000128.3:c.908delG
Protein change:
G303fs
Links:
dbSNP: rs786204722
NCBI 1000 Genomes Browser:
rs786204722
Molecular consequence:
  • NM_000128.4:c.908del - 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
SCV000221036Counsylcriteria provided, single submitter
Likely pathogenic
(Jan 16, 2015)
unknownliterature only

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

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

Citation Link,

SCV001161819NIHR Bioresource Rare Diseases, University of Cambridgeno assertion criteria providedLikely pathogenicunknownresearch

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

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownyes3not providednot provided3not providedresearch
not providedunknownunknownnot providednot providednot providednot providednot providedliterature only

Citations

PubMed

Factor XI deficiency in French Basques is caused predominantly by an ancestral Cys38Arg mutation in the factor XI gene.

Zivelin A, Bauduer F, Ducout L, Peretz H, Rosenberg N, Yatuv R, Seligsohn U.

Blood. 2002 Apr 1;99(7):2448-54.

PubMed [citation]
PMID:
11895778

The spectrum of factor XI deficiency in Italy.

Castaman G, Giacomelli SH, Caccia S, Riccardi F, Rossetti G, Dragani A, Giuffrida AC, Biasoli C, Duga S.

Haemophilia. 2014 Jan;20(1):106-13. doi: 10.1111/hae.12257. Epub 2013 Sep 24.

PubMed [citation]
PMID:
24112640
See all PubMed Citations (3)

Details of each submission

From Counsyl, SCV000221036.1

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

From NIHR Bioresource Rare Diseases, University of Cambridge, SCV001161819.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedresearch PubMed (1)
2not provided1not providednot providedresearch PubMed (1)
3not provided1not providednot providedresearch PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownyes1not providednot provided1not providednot providednot provided
2unknownyes1not providednot provided1not providednot providednot provided
3unknownyes1not providednot provided1not providednot providednot provided

Last Updated: Oct 25, 2021

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