NM_000129.4(F13A1):c.799-13C>T AND Factor XIII, A subunit, deficiency of

Clinical significance:Uncertain significance (Last evaluated: Jun 14, 2016)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000332743.2

Allele description [Variation Report for NM_000129.4(F13A1):c.799-13C>T]

NM_000129.4(F13A1):c.799-13C>T

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.799-13C>T
HGVS:
  • NC_000006.12:g.6224873G>A
  • NG_008107.1:g.100819C>T
  • NM_000129.3:c.799-13C>T
  • NM_000129.4:c.799-13C>TMANE SELECT
  • LRG_549t1:c.799-13C>T
  • LRG_549:g.100819C>T
  • NC_000006.11:g.6225106G>A
Links:
dbSNP: rs188094485
NCBI 1000 Genomes Browser:
rs188094485
Molecular consequence:
  • NM_000129.3:c.799-13C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_000129.4:c.799-13C>T - intron variant - [Sequence Ontology: SO:0001627]

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
SCV000464375Illumina Clinical Services Laboratory,Illuminacriteria provided, single submitter
Uncertain significance
(Jun 14, 2016)
germlineclinical testing

ICSL_Variant_Classification_20161018.pdf

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From Illumina Clinical Services Laboratory,Illumina, SCV000464375.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Oct 25, 2021

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