Variant (rsID / SNP)

rs386134248

rs386134248 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MEN1. Location: chromosome 11, position 64,577,458. Clinical significance in the table: Uncertain significance.

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Reference-table entries

MEN1Uncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: Deletion
Chromosome / position: 11:64577458
Cytoband: 11q13.1
HGVS: NM_001370259.2(MEN1):c.119_124del (p.Val40_Leu41del)

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.