Variant (rsID / SNP)

rs121908473

rs121908473 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ADAMTS13. Location: chromosome 9, position 136,303,015. Clinical significance in the table: Pathogenic.

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Reference-table entries

ADAMTS13Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 9:136303015
Cytoband: 9q34.2
HGVS: NM_139027.6(ADAMTS13):c.1582A>G (p.Arg528Gly)
Allele change: Silent

Associated conditions / phenotypes

Upshaw-Schulman 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.