Variant (rsID / SNP)

rs863225314

rs863225314 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to APC. Location: chromosome 5, position 112,162,829. Clinical significance in the table: Likely pathogenic.

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Reference-table entries

APCLikely pathogenic

Clinical significance (as recorded): Likely pathogenic
Variant type: single nucleotide variant
Chromosome / position: 5:112162829
Cytoband: 5q22.2
HGVS: NM_000038.6(APC):c.1433T>G (p.Leu478Ter)
Allele change: Nonsense_L478X

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.