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Variant (rsID / SNP)

rs794728616

MEN1

rs794728616 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MEN1. Location: chromosome 11, position 64,577,469. 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
11:64577469
Cytoband
11q13.1
HGVS
NM_001370259.2(MEN1):c.113C>T (p.Ser38Phe)
Allele change
Missense_S38F

Associated conditions / phenotypes

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

Public references

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.