Variant (rsID / SNP)

rs138729147

rs138729147 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ITGB3. Location: chromosome 17, position 45,380,203. Clinical significance in the table: Uncertain significance.

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Reference-table entries

ITGB3Uncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Chromosome / position: 17:45380203
Cytoband: 17q21.32
HGVS: NM_000212.3(ITGB3):c.2131C>T (p.Pro711Ser)
Allele change: Missense_P711S

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.