Variant (rsID / SNP)

rs200678111

rs200678111 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CTRC. Location: chromosome 1, position 15,771,140. 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: 1:15771140
Cytoband: 1p36.21
HGVS: NM_007272.3(CTRC):c.533A>G (p.Gln178Arg)
Allele change: Missense_Q178R

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.