Variant (rsID / SNP)
rs193922655
rs193922655 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PRSS1. Location: chromosome 7, position 142,459,813. Clinical significance in the table: Conflicting interpretations of pathogenicity.
Reference-table entries
PRSS1Conflicting interpretations
- Clinical significance (as recorded)
- Conflicting interpretations of pathogenicity
- Variant type
- single nucleotide variant
- Chromosome / position
- 7:142459813
- Cytoband
- 7q34
- HGVS
- NM_002769.5(PRSS1):c.389C>T (p.Thr130Ile)
- Allele change
- Missense_T130I
Associated conditions / phenotypes
Hereditary pancreatitis
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.