Variant (rsID / SNP)
rs863224526
rs863224526 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MEN1. Location: chromosome 11, position 64,572,210. Clinical significance in the table: Pathogenic.
Reference-table entries
MEN1Pathogenic
- Clinical significance (as recorded)
- Pathogenic
- Variant type
- single nucleotide variant
- Chromosome / position
- 11:64572210
- Cytoband
- 11q13.1
- HGVS
- NM_001370259.2(MEN1):c.1429G>T (p.Glu477Ter)
- Allele change
- Nonsense_E482X
Associated conditions / phenotypes
Multiple endocrine neoplasia, type 1|Hereditary cancer-predisposing syndrome
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.