Variant (rsID / SNP)
rs121913034
rs121913034 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MEN1. Location: chromosome 11, position 64,577,179. Clinical significance in the table: Pathogenic.
Reference-table entries
MEN1Pathogenic
- Clinical significance (as recorded)
- Pathogenic
- Variant type
- single nucleotide variant
- Chromosome / position
- 11:64577179
- Cytoband
- 11q13.1
- HGVS
- NM_001370259.2(MEN1):c.403A>T (p.Lys135Ter)
- Allele change
- Nonsense_K135X
Associated conditions / phenotypes
Angiofibroma, somatic
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.