Variant (rsID / SNP)

rs104893939

rs104893939 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SPINK1. Location: chromosome 5, position 147,211,100. Clinical significance in the table: Pathogenic.

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Reference-table entries

SPINK1Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 5:147211100
Cytoband: 5q32
HGVS: NM_001379610.1(SPINK1):c.41T>C (p.Leu14Pro)
Allele change: Missense_L14P

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.