Variant (rsID / SNP)

rs121913329

rs121913329 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to APC. Location: chromosome 5, position 112,175,423. Clinical significance in the table: Pathogenic.

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Reference-table entries

APCPathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 5:112175423
Cytoband: 5q22.2
HGVS: NM_000038.6(APC):c.4132C>T (p.Gln1378Ter)
Allele change: Nonsense_Q1378X

Associated conditions / phenotypes

Neoplasm of the large intestine|Hereditary cancer-predisposing syndrome

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.