Variant (rsID / SNP)

rs121918446

rs121918446 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ITGB3. Location: chromosome 17, position 45,363,729. Clinical significance in the table: Likely pathogenic.

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Reference-table entries

ITGB3Likely pathogenic

Clinical significance (as recorded): Likely pathogenic
Variant type: single nucleotide variant
Chromosome / position: 17:45363729
Cytoband: 17q21.32
HGVS: NM_000212.3(ITGB3):c.718C>T (p.Arg240Trp)
Allele change: Missense_R240W

Associated conditions / phenotypes

Glanzmann thrombasthenia 2|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.