Variant (rsID / SNP)

rs193922659

rs193922659 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SPINK1. Location: chromosome 5, position 147,211,114. Clinical significance in the table: Pathogenic.

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Reference-table entries

SPINK1Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: Deletion
Chromosome / position: 5:147211114
Cytoband: 5q32
HGVS: NM_001379610.1(SPINK1):c.27del (p.Ser10fs)

Associated conditions / phenotypes

Hereditary pancreatitis

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.