Variant (rsID / SNP)

rs121913326

rs121913326 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to APC. Location: chromosome 5, position 112,175,426. Clinical significance in the table: Pathogenic/Likely pathogenic.

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Reference-table entries

APCPathogenic

Clinical significance (as recorded): Pathogenic/Likely pathogenic
Variant type: single nucleotide variant
Chromosome / position: 5:112175426
Cytoband: 5q22.2
HGVS: NM_000038.6(APC):c.4135G>T (p.Glu1379Ter)
Allele change: Nonsense_E1379X

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.