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Variant (rsID / SNP)

rs607969

MEN1

rs607969 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MEN1. Location: chromosome 11, position 64,575,505. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

MEN1Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
11:64575505
Cytoband
11q13.1
HGVS
NM_001370259.2(MEN1):c.512G>A (p.Arg171Gln)
Allele change
Missense_R176Q

Associated conditions / phenotypes

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

Public references

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