Variant (rsID / SNP)

rs121908470

rs121908470 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ADAMTS13. Location: chromosome 9, position 136,291,366. Clinical significance in the table: Pathogenic.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

ADAMTS13Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 9:136291366
Cytoband: 9q34.2
HGVS: NM_139027.6(ADAMTS13):c.587C>T (p.Thr196Ile)
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.