Variant (rsID / SNP)

rs5919

rs5919 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ITGB3. Location: chromosome 17, position 45,364,540. 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: 17:45364540
Cytoband: 17q21.32
HGVS: NM_000212.3(ITGB3):c.882T>C (p.Pro294=)
Allele change: Synonymous_P294P

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.