Variant (rsID / SNP)

rs147112200

rs147112200 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ADAMTS13. Location: chromosome 9, position 136,310,143. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

ADAMTS13Conflicting interpretations

Clinical significance (as recorded): Conflicting interpretations of pathogenicity
Variant type: single nucleotide variant
Chromosome / position: 9:136310143
Cytoband: 9q34.2
HGVS: NM_139027.6(ADAMTS13):c.2580C>T (p.Val860=)
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.