Variant (rsID / SNP)

rs111033568

rs111033568 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PRSS1. Location: chromosome 7, position 142,459,788. Clinical significance in the table: Pathogenic.

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Reference-table entries

PRSS1Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 7:142459788
Cytoband: 7q34
HGVS: NM_002769.5(PRSS1):c.364C>T (p.Arg122Cys)
Allele change: Missense_R122C

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.