Variant (rsID / SNP)

rs104893938

rs104893938 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SPINK1. Location: chromosome 5, position 147,211,139. Clinical significance in the table: Pathogenic.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

SPINK1Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 5:147211139
Cytoband: 5q32
HGVS: NM_001379610.1(SPINK1):c.2T>C (p.Met1Thr)
Allele change: Missense_M1T

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.