Variant (rsID / SNP)

rs397514032

rs397514032 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to APC. Location: chromosome 5, position 112,164,620. Clinical significance in the table: Pathogenic.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

APCPathogenic

Clinical significance (as recorded): Pathogenic
Variant type: Deletion
Chromosome / position: 5:112164620
Cytoband: 5q22.2
HGVS: NM_000038.6(APC):c.1695del (p.Val566fs)

Associated conditions / phenotypes

Hepatocellular carcinoma

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.