Variant (rsID / SNP)

rs200771233

rs200771233 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PSTPIP1. Location: chromosome 15, position 77,329,417. Clinical significance in the table: Benign/Likely benign.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

PSTPIP1Benign

Clinical significance (as recorded): Benign/Likely benign
Variant type: single nucleotide variant
Chromosome / position: 15:77329417
Cytoband: 15q24.3
HGVS: NM_003978.5(PSTPIP1):c.1151A>G (p.Asp384Gly)
Allele change: Missense_D449G

Associated conditions / phenotypes

Pyogenic arthritis-pyoderma gangrenosum-acne syndrome|Autoinflammatory 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.