Variant (rsID / SNP)

rs794728640

rs794728640 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MEN1. Location: chromosome 11, position 64,575,386. Clinical significance in the table: Pathogenic.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

MEN1Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: Deletion
Chromosome / position: 11:64575386
Cytoband: 11q13.1
HGVS: NM_001370259.2(MEN1):c.628_631del (p.Thr210fs)

Associated conditions / phenotypes

Multiple endocrine neoplasia, type 1|Hereditary cancer-predisposing syndrome

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.