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NM_000129.4(F13A1):c.563G>T (p.Trp188Leu) AND Hereditary factor XIII deficiency disease

Germline classification:
Pathogenic (1 submission)
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV000785755.1

Allele description [Variation Report for NM_000129.4(F13A1):c.563G>T (p.Trp188Leu)]

NM_000129.4(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_000129.4(F13A1):c.563G>T (p.Trp188Leu)
HGVS:
  • NC_000006.12:g.6266566C>A
  • NG_008107.1:g.59126G>T
  • NM_000129.4:c.563G>TMANE SELECT
  • NP_000120.2:p.Trp188Leu
  • 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
  • NM_000129.3:c.563G>T
Protein change:
W188L
Links:
dbSNP: rs1561673120
NCBI 1000 Genomes Browser:
rs1561673120
Molecular consequence:
  • NM_000129.4: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

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000924313Hematology and Blood Transfusion, Iran University of Medical Sciences
no assertion criteria provided
Pathogenicinheritedclinical testing

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

Help

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: Apr 23, 2022