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Variant (rsID / SNP)

rs201253322

PSTPIP1

rs201253322 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PSTPIP1. Location: chromosome 15, position 77,329,479. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

PSTPIP1Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
15:77329479
Cytoband
15q24.3
HGVS
NM_003978.5(PSTPIP1):c.1213C>T (p.Arg405Cys)
Allele change
Missense_R470C

Associated conditions / phenotypes

Pyogenic arthritis-pyoderma gangrenosum-acne syndrome|Autoinflammatory syndrome

Public references

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.