Variant (rsID / SNP)

rs111033565

rs111033565 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PRSS1. Location: chromosome 7, position 142,459,789. Clinical significance in the table: Pathogenic.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

PRSS1Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 7:142459789
Cytoband: 7q34
HGVS: NM_002769.5(PRSS1):c.365G>A (p.Arg122His)
Allele change: Missense_R122H

Associated conditions / phenotypes

Hereditary pancreatitis|Inborn genetic diseases

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.