Variant (rsID / SNP)

rs147411334

rs147411334 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to APC. Location: chromosome 5, position 112,175,077. Clinical significance in the table: Benign/Likely benign.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

APCBenign

Clinical significance (as recorded): Benign/Likely benign
Variant type: single nucleotide variant
Chromosome / position: 5:112175077
Cytoband: 5q22.2
HGVS: NM_000038.6(APC):c.3786T>C (p.Tyr1262=)
Allele change: Synonymous_Y1262Y

Associated conditions / phenotypes

Hereditary cancer-predisposing syndrome|Carcinoma of colon|Familial adenomatous polyposis 1

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.