Variant (rsID / SNP)

rs886041107

rs886041107 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PSTPIP1. Location: chromosome 15, position 77,320,202. Clinical significance in the table: Uncertain significance.

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Reference-table entries

PSTPIP1Uncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Chromosome / position: 15:77320202
Cytoband: 15q24.3
HGVS: NM_003978.5(PSTPIP1):c.364G>A (p.Val122Ile)
Allele change: Missense_V187I

Associated conditions / phenotypes

Behcet disease|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.