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:
current
Accession:
RCV000018004.28

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

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

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.1984C>T (p.Arg662Ter)
Other names:
F13A1, ARG661TER; R661*
HGVS:
  • 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
Links:
OMIM: 134570.0017; dbSNP: rs267606789
NCBI 1000 Genomes Browser:
rs267606789
Molecular consequence:
  • NM_000129.3:c.1984C>T - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

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

Recent activity

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
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

Citations

PubMed

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]
PMID:
8025280

Details of each submission

From OMIM, SCV000038283.2

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

Description

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.

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

Last Updated: Mar 28, 2021

Support Center