Variant (rsID / SNP)

rs28931612

rs28931612 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MEN1. Location: chromosome 11, position 64,577,506. 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: 11:64577506
Cytoband: 11q13.1
HGVS: NM_001370259.2(MEN1):c.76G>A (p.Glu26Lys)
Allele change: Missense_E26K

Associated conditions / phenotypes

Parathyroid adenoma, somatic|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.