NM_000129.3(F13A1):c.1984C>T (p.Arg662Ter) AND Factor XIII, A subunit, deficiency of

Clinical significance:Pathogenic (Last evaluated: Jul 15, 1994)

Review status:(0/4) 0 stars out of maximum of 4 stars

no assertion criteria provided

Based on:
1 submission [Details]
Record status:

Allele description [Variation Report for NM_000129.3(F13A1):c.1984C>T (p.Arg662Ter)]

NM_000129.3(F13A1):c.1984C>T (p.Arg662Ter)

F13A1:coagulation factor XIII A chain [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
Genomic location:
Preferred name:
NM_000129.3(F13A1):c.1984C>T (p.Arg662Ter)
Other names:
F13A1, ARG661TER; R661*
  • NC_000006.12:g.6151874G>A
  • NG_008107.1:g.173818C>T
  • NM_000129.3:c.1984C>T
  • NP_000120.2:p.Arg662Ter
  • LRG_549t1:c.1984C>T
  • LRG_549:g.173818C>T
  • LRG_549p1:p.Arg662Ter
  • NC_000006.11:g.6152107G>A
Protein change:
R662*; ARG661TER
OMIM: 134570.0017; dbSNP: rs267606789
NCBI 1000 Genomes Browser:
Molecular consequence:
  • NM_000129.3:c.1984C>T - nonsense - [Sequence Ontology: SO:0001587]


Factor XIII, A subunit, deficiency of
Factor XIII subunit A deficiency; Reduced factor XIII, subunit A
MONDO: MONDO:0013187; MedGen: C2750514; Orphanet: 331; OMIM: 613225; Human Phenotype Ontology: HP:0040233

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
SCV000038283OMIMno assertion criteria providedPathogenic
(Jul 15, 1994)
germlineliterature only

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

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot providednot providednot providednot providednot providednot providedliterature only



Deficiency in the A-subunit of coagulation factor XIII: two novel point mutations demonstrate different effects on transcript levels.

Mikkola H, Syrjälä M, Rasi V, Vahtera E, Hämäläinen E, Peltonen L, Palotie A.

Blood. 1994 Jul 15;84(2):517-25.

PubMed [citation]

Details of each submission

From OMIM, SCV000038283.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (1)


In affected members of 6 of 8 Finnish families with factor XIII deficiency (613225), Mikkola et al. (1994) identified a C-to-T transition in exon 14 of the F13A1 gene, resulting in an arg661-to-ter (R661X) substitution. Six patients from 4 families were homozygous for the R661X mutation, and 3 patients from 2 additional families were compound heterozygous for R661X and another mutation, including 1 patient with a T-to-C transition in exon 6, resulting in a met242-to-thr (M242T; 134570.0018) substitution. Thus, the R661X mutation accounted for 62.5% of all the mutant alleles in this population, suggesting a founder effect. The mutation was not identified in 600 controls.

OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenot providednot providednot providednot providednot providednot providednot providednot provided

Last Updated: Mar 28, 2021

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