Variant (rsID / SNP)

rs386134254

rs386134254 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MEN1. Location: chromosome 11, position 64,577,165. Clinical significance in the table: Likely pathogenic.

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Reference-table entries

MEN1Likely pathogenic

Clinical significance (as recorded): Likely pathogenic
Variant type: single nucleotide variant
Chromosome / position: 11:64577165
Cytoband: 11q13.1
HGVS: NM_001370259.2(MEN1):c.417C>G (p.His139Gln)
Allele change: Missense_H139Q

Associated conditions / phenotypes

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.