Variant (rsID / SNP)

rs28933378

rs28933378 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to GP9. Location: chromosome 3, position 128,780,652. Clinical significance in the table: Pathogenic.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

GP9Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 3:128780652
Cytoband: 3q21.3
HGVS: NM_000174.5(GP9):c.70T>C (p.Cys24Arg)
Allele change: Missense_C24R

Associated conditions / phenotypes

Bernard-Soulier syndrome type C|Bernard Soulier syndrome

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.