Variant (rsID / SNP)

rs28933377

rs28933377 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to GP9. Location: chromosome 3, position 128,780,749. Clinical significance in the table: Pathogenic.

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Reference-table entries

GP9Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 3:128780749
Cytoband: 3q21.3
HGVS: NM_000174.5(GP9):c.167T>C (p.Leu56Pro)
Allele change: Missense_L56P

Associated conditions / phenotypes

Bernard-Soulier syndrome type C

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.