Variant (rsID / SNP)

rs28503257

rs28503257 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ADAMTS13. Location: chromosome 9, position 136,319,589. Clinical significance in the table: Benign/Likely benign.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

ADAMTS13Benign

Clinical significance (as recorded): Benign/Likely benign
Variant type: single nucleotide variant
Chromosome / position: 9:136319589
Cytoband: 9q34.2
HGVS: NM_139027.6(ADAMTS13):c.3097G>A (p.Ala1033Thr)
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.