Variant (rsID / SNP)

rs142560329

rs142560329 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CTRC. Location: chromosome 1, position 15,772,198. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

CTRCConflicting interpretations

Clinical significance (as recorded): Conflicting interpretations of pathogenicity
Variant type: single nucleotide variant
Chromosome / position: 1:15772198
Cytoband: 1p36.21
HGVS: NM_007272.3(CTRC):c.746C>T (p.Pro249Leu)
Allele change: Missense_P249L

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.