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Variant (rsID / SNP)

rs139461096

MRE11

rs139461096 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MRE11. Location: chromosome 11, position 94,180,441. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

MRE11Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
11:94180441
Cytoband
11q21
HGVS
NM_005591.4(MRE11):c.1727G>A (p.Arg576Gln)
Allele change
Missense_R576Q

Associated conditions / phenotypes

Hereditary cancer-predisposing syndrome|Depression|Parkinsonism|Dementia|Dystonic disorder|Ataxia-telangiectasia-like disorder

Public references

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