NM_000129.4(F13A1):c.1346G>C (p.Gly449Ala) AND Factor XIII, A subunit, deficiency of

Clinical significance:Uncertain significance (Last evaluated: Apr 28, 2021)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV001420446.1

Allele description [Variation Report for NM_000129.4(F13A1):c.1346G>C (p.Gly449Ala)]

NM_000129.4(F13A1):c.1346G>C (p.Gly449Ala)

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.1346G>C (p.Gly449Ala)
HGVS:
  • NC_000006.12:g.6182101C>G
  • NG_008107.1:g.143591G>C
  • NM_000129.4:c.1346G>CMANE SELECT
  • NP_000120.2:p.Gly449Ala
  • LRG_549t1:c.1346G>C
  • LRG_549:g.143591G>C
  • NC_000006.11:g.6182334C>G
  • NM_000129.3:c.1346G>C
Protein change:
G449A
Molecular consequence:
  • NM_000129.4:c.1346G>C - missense variant - [Sequence Ontology: SO:0001583]

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

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001622482Center for Genomic Medicine,King Faisal Specialist Hospital and Research Centercriteria provided, single submitter
Uncertain significance
(Apr 28, 2021)
germlineresearch

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

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedresearch

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 Center for Genomic Medicine,King Faisal Specialist Hospital and Research Center, SCV001622482.1

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

Last Updated: May 20, 2021

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