Variant (rsID / SNP)
rs121909293
rs121909293 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CTRC. Location: chromosome 1, position 15,772,212. Clinical significance in the table: Conflicting interpretations of pathogenicity; association.
Reference-table entries
CTRCConflicting interpretations
- Clinical significance (as recorded)
- Conflicting interpretations of pathogenicity; association
- Variant type
- single nucleotide variant
- Chromosome / position
- 1:15772212
- Cytoband
- 1p36.21
- HGVS
- NM_007272.3(CTRC):c.760C>T (p.Arg254Trp)
- Allele change
- Missense_R254W
Associated conditions / phenotypes
Pancreatitis, chronic, susceptibility to|Hereditary pancreatitis|Inborn genetic diseases
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.