Variant (rsID / SNP)

rs121913328

rs121913328 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to APC. Location: chromosome 5, position 112,175,390. 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: 5:112175390
Cytoband: 5q22.2
HGVS: NM_000038.6(APC):c.4099C>T (p.Gln1367Ter)
Allele change: Nonsense_Q1367X

Associated conditions / phenotypes

Neoplasm of the large intestine

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.