Variant (rsID / SNP)

rs199531292

rs199531292 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PRSS1. Location: chromosome 7, position 142,460,732. Clinical significance in the table: Uncertain significance.

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Reference-table entries

PRSS1Uncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Chromosome / position: 7:142460732
Cytoband: 7q34
HGVS: NM_002769.5(PRSS1):c.605G>C (p.Gly202Ala)
Allele change: Missense_G202A

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.