Variant (rsID / SNP)
rs373669288
rs373669288 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MEN1. Location: chromosome 11, position 64,571,875. Clinical significance in the table: Conflicting interpretations of pathogenicity.
Reference-table entries
MEN1Conflicting interpretations
- Clinical significance (as recorded)
- Conflicting interpretations of pathogenicity
- Variant type
- single nucleotide variant
- Chromosome / position
- 11:64571875
- Cytoband
- 11q13.1
- HGVS
- NM_001370259.2(MEN1):c.1764G>A (p.Lys588=)
- Allele change
- Synonymous_K593K
Associated conditions / phenotypes
Multiple endocrine neoplasia, type 1|Multiple endocrine neoplasia|Hyperparathyroidism|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.
