Variant (rsID / SNP)

rs28939089

rs28939089 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PSTPIP1. Location: chromosome 15, position 77,324,645. Clinical significance in the table: Pathogenic.

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Reference-table entries

PSTPIP1Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 15:77324645
Cytoband: 15q24.3
HGVS: NM_003978.5(PSTPIP1):c.748G>C (p.Glu250Gln)
Allele change: Missense_E315K

Associated conditions / phenotypes

Pyogenic arthritis-pyoderma gangrenosum-acne 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.