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Variant (rsID / SNP)

rs137852761

MRE11

rs137852761 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MRE11. Location: chromosome 11, position 94,180,454. Clinical significance in the table: Pathogenic/Likely pathogenic.

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Reference-table entries

MRE11Pathogenic
Clinical significance (as recorded)
Pathogenic/Likely pathogenic
Variant type
single nucleotide variant
Chromosome / position
11:94180454
Cytoband
11q21
HGVS
NM_005591.4(MRE11):c.1714C>T (p.Arg572Ter)
Allele change
Nonsense_R572X

Associated conditions / phenotypes

Ataxia-telangiectasia-like disorder 1|Hereditary cancer-predisposing syndrome|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.