NM_001994.3(F13B):c.1163A>T (p.Glu388Val) AND Hereditary factor XIII deficiency disease

Clinical significance:Uncertain significance (Last evaluated: Aug 6, 2019)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV001270109.1

Allele description [Variation Report for NM_001994.3(F13B):c.1163A>T (p.Glu388Val)]

NM_001994.3(F13B):c.1163A>T (p.Glu388Val)

Gene:
F13B:coagulation factor XIII B chain [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
1q31.3
Genomic location:
Preferred name:
NM_001994.3(F13B):c.1163A>T (p.Glu388Val)
HGVS:
  • NC_000001.11:g.197057021T>A
  • NG_012065.1:g.15247A>T
  • NM_001994.2:c.1163A>T
  • NM_001994.3:c.1163A>TMANE SELECT
  • NP_001985.2:p.Glu388Val
  • NP_001985.2:p.Glu388Val
  • LRG_550t1:c.1163A>T
  • LRG_550:g.15247A>T
  • LRG_550p1:p.Glu388Val
  • NC_000001.10:g.197026151T>A
  • P05160:p.Glu388Val
Protein change:
E388V
Links:
UniProtKB: P05160#VAR_013933; dbSNP: rs5991
NCBI 1000 Genomes Browser:
rs5991
Molecular consequence:
  • NM_001994.2:c.1163A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001994.3:c.1163A>T - missense variant - [Sequence Ontology: SO:0001583]
Observations:
1

Condition(s)

Name:
Hereditary factor XIII deficiency disease
Synonyms:
Fibrin stabilizing factor deficiency; Congenital Factor XIII deficiency
Identifiers:
MONDO: MONDO:0018029; MeSH: D005177; MedGen: C0015530

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001448952Knight Diagnostic Laboratories, Oregon Health and Sciences Universitycriteria provided, single submitter
Uncertain significance
(Aug 6, 2019)
germlineclinical testing

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

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknown1not 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 Knight Diagnostic Laboratories, Oregon Health and Sciences University, SCV001448952.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot provided1not providednot providednot provided

Last Updated: Oct 25, 2021

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