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Variant (rsID / SNP)

rs5030764

GP9

rs5030764 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to GP9. Location: chromosome 3, position 128,780,764. Clinical significance in the table: Pathogenic/Likely pathogenic.

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Reference-table entries

GP9Pathogenic
Clinical significance (as recorded)
Pathogenic/Likely pathogenic
Variant type
single nucleotide variant
Chromosome / position
3:128780764
Cytoband
3q21.3
HGVS
NM_000174.5(GP9):c.182A>G (p.Asn61Ser)
Allele change
Missense_N61S

Associated conditions / phenotypes

Bernard-Soulier syndrome type C|Bernard Soulier syndrome|Macrothrombocytopenia|Thrombocytopenia

Public references

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.