Variant (rsID / SNP)

rs76811038

rs76811038 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ITGA2B. Location: chromosome 17, position 42,457,148. Clinical significance in the table: Uncertain significance.

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Reference-table entries

ITGA2BUncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Chromosome / position: 17:42457148
Cytoband: 17q21.31
HGVS: NM_000419.5(ITGA2B):c.1787T>C (p.Ile596Thr)
Allele change: Missense_I596T

Associated conditions / phenotypes

Glanzmann thrombasthenia|Glanzmann thrombasthenia 1

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.