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Variant (rsID / SNP)

rs61749249

MRE11

rs61749249 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MRE11. Location: chromosome 11, position 94,192,599. 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
11:94192599
Cytoband
11q21
HGVS
NM_005591.4(MRE11):c.1475C>A (p.Ala492Asp)
Allele change
Missense_A492D

Associated conditions / phenotypes

Hereditary cancer-predisposing syndrome|Ataxia-telangiectasia-like disorder 1|Ataxia-telangiectasia-like disorder|Hereditary breast ovarian cancer syndrome

Public references

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