Variant (rsID / SNP)

rs759130031

rs759130031 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MRE11. Location: chromosome 11, position 94,209,454. 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: 11:94209454
Cytoband: 11q21
HGVS: NM_005591.4(MRE11):c.659+1G>A
Allele change: Silent

Associated conditions / phenotypes

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

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.