Variant (rsID / SNP)

rs121909294

rs121909294 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CTRC. Location: chromosome 1, position 15,767,020. Clinical significance in the table: Pathogenic.

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Reference-table entries

CTRCPathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 1:15767020
Cytoband: 1p36.21
HGVS: NM_007272.3(CTRC):c.164G>A (p.Trp55Ter)
Allele change: Nonsense_W55X

Associated conditions / phenotypes

Pancreatitis, chronic, susceptibility to|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.