Variant (rsID / SNP)
rs374659656
rs374659656 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MEN1. Location: chromosome 11, position 64,575,033. 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
- 11:64575033
- Cytoband
- 11q13.1
- HGVS
- NM_001370259.2(MEN1):c.774G>C (p.Gln258His)
- Allele change
- Missense_Q263H
Associated conditions / phenotypes
Hyperparathyroidism|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.
