Variant (rsID / SNP)

rs143967758

rs143967758 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ITGA2B. Location: chromosome 17, position 42,457,495. Clinical significance in the table: Benign.

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Reference-table entries

ITGA2BBenign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 17:42457495
Cytoband: 17q21.31
HGVS: NM_000419.5(ITGA2B):c.1627C>T (p.Arg543Trp)
Allele change: Missense_R543W

Associated conditions / phenotypes

Glanzmann thrombasthenia

Public references

dbSNP
ClinVar
Ensembl
gnomAD

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.