Variant (rsID / SNP)

rs11858480

rs11858480 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PSTPIP1. Location: chromosome 15, position 77,325,279. Clinical significance in the table: Benign.

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Reference-table entries

PSTPIP1Benign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 15:77325279
Cytoband: 15q24.3
HGVS: NM_003978.5(PSTPIP1):c.915C>T (p.Cys305=)
Allele change: Synonymous_C370C

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.