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NM_000419.5(ITGA2B):c.138dup (p.Gly47fs) AND Glanzmann thrombasthenia 1

Germline classification:
Likely 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:
RCV002245330.2

Allele description [Variation Report for NM_000419.5(ITGA2B):c.138dup (p.Gly47fs)]

NM_000419.5(ITGA2B):c.138dup (p.Gly47fs)

Gene:
ITGA2B:integrin subunit alpha 2b [Gene - OMIM - HGNC]
Variant type:
Duplication
Cytogenetic location:
17q21.31
Genomic location:
Preferred name:
NM_000419.5(ITGA2B):c.138dup (p.Gly47fs)
Other names:
NM_000419.5(ITGA2B):c.138dup; p.Gly47fs
HGVS:
  • NC_000017.11:g.44389336dup
  • NG_008331.1:g.5170dup
  • NM_000419.5:c.138dupMANE SELECT
  • NP_000410.2:p.Gly47fs
  • LRG_479t1:c.138dup
  • LRG_479:g.5170dup
  • NC_000017.10:g.42466704dup
  • NM_000419.3:c.138dupT
Protein change:
G47fs
Links:
dbSNP: rs2143506473
NCBI 1000 Genomes Browser:
rs2143506473
Molecular consequence:
  • NM_000419.5:c.138dup - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:
Glanzmann thrombasthenia 1 (GT1)
Synonyms:
GP IIb-IIIa COMPLEX DEFICIENCY; GLYCOPROTEIN COMPLEX IIb-IIIa DEFICIENCY; PLATELET FIBRINOGEN RECEPTOR DEFICIENCY
Identifiers:
MONDO: MONDO:0031332; MedGen: CN300358; OMIM: 273800

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV002515513ISTH-SSC Genomics in Thrombosis and Hemostasis, KU Leuven, Center for Molecular and Vascular Biology
no assertion criteria provided
Likely pathogenicunknownresearch

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownyesnot providednot providednot providednot providednot providedresearch

Details of each submission

From ISTH-SSC Genomics in Thrombosis and Hemostasis, KU Leuven, Center for Molecular and Vascular Biology, SCV002515513.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedresearchnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: May 7, 2024