Variant (rsID / SNP)

rs4642

rs4642 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ITGB3. Location: chromosome 17, position 45,369,777. Clinical significance in the table: Benign.

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Reference-table entries

ITGB3Benign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 17:45369777
Cytoband: 17q21.32
HGVS: NM_000212.3(ITGB3):c.1533A>G (p.Glu511=)
Allele change: Synonymous_E511E

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.