Variant (rsID / SNP)

rs376872829

rs376872829 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MEN1. Location: chromosome 11, position 64,575,491. Clinical significance in the table: Pathogenic/Likely pathogenic.

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Reference-table entries

MEN1Pathogenic

Clinical significance (as recorded): Pathogenic/Likely pathogenic
Variant type: single nucleotide variant
Chromosome / position: 11:64575491
Cytoband: 11q13.1
HGVS: NM_001370259.2(MEN1):c.526G>C (p.Ala176Pro)
Allele change: Missense_A181S

Associated conditions / phenotypes

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

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.