Variant (rsID / SNP)

rs794728631

rs794728631 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MEN1. Location: chromosome 11, position 64,571,979. Clinical significance in the table: Pathogenic.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

MEN1Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 11:64571979
Cytoband: 11q13.1
HGVS: NM_001370259.2(MEN1):c.1660C>T (p.Gln554Ter)
Allele change: Nonsense_Q559X

Associated conditions / phenotypes

Hereditary cancer-predisposing syndrome|Multiple endocrine neoplasia, type 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.