Variant (rsID / SNP)

rs202058123

rs202058123 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CTRC. Location: chromosome 1, position 15,772,101. Clinical significance in the table: Conflicting interpretations of pathogenicity.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

CTRCConflicting interpretations

Clinical significance (as recorded): Conflicting interpretations of pathogenicity
Variant type: single nucleotide variant
Chromosome / position: 1:15772101
Cytoband: 1p36.21
HGVS: NM_007272.3(CTRC):c.649G>C (p.Gly217Arg)
Allele change: Missense_G217S

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.