NM_000129.3(F13A1):c.563G>T (p.Trp188Leu) AND Hereditary factor XIII deficiency disease

Clinical significance:Pathogenic

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:
RCV000785755.1

Allele description [Variation Report for NM_000129.3(F13A1):c.563G>T (p.Trp188Leu)]

NM_000129.3(F13A1):c.563G>T (p.Trp188Leu)

Gene:
F13A1:coagulation factor XIII A chain [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
6p25.1
Genomic location:
Preferred name:
NM_000129.3(F13A1):c.563G>T (p.Trp188Leu)
HGVS:
  • NC_000006.12:g.6266566C>A
  • NG_008107.1:g.59126G>T
  • NM_000129.3:c.563G>T
  • NP_000120.2:p.Trp188Leu
  • LRG_549t1:c.563G>T
  • LRG_549:g.59126G>T
  • LRG_549p1:p.Trp188Leu
  • NC_000006.11:g.6266799C>A
Protein change:
W188L
Links:
dbSNP: rs1561673120
NCBI 1000 Genomes Browser:
rs1561673120
Molecular consequence:
  • NM_000129.3:c.563G>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
SCV000924313Hematology and Blood Transfusion,Iran University of Medical Sciencesno assertion criteria providedPathogenicinheritedclinical testing

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

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
Afghaninheritedyes1not providednot providednot providednot providedclinical testing

Citations

PubMed

Factor XIII Deficiency in Western Afghanistan due to a Novel F13A Gene Mutation.

Mousavi SH, Zeinali S, Mesbah-Namin SA, Shams M, Dorgalaleh A.

Int J Lab Hematol. 2020 Feb;42(1):e1-e3. doi: 10.1111/ijlh.13050. Epub 2019 May 28. No abstract available.

PubMed [citation]
PMID:
31136071

Details of each submission

From Hematology and Blood Transfusion,Iran University of Medical Sciences, SCV000924313.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1Afghan1not providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1inheritedyesnot providednot providednot provided1not providednot providednot provided

Last Updated: Aug 3, 2021

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