Variant (rsID / SNP)

rs148637964

rs148637964 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MRE11. Location: chromosome 11, position 94,179,032. Clinical significance in the table: Uncertain significance.

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Reference-table entries

MRE11Uncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Chromosome / position: 11:94179032
Cytoband: 11q21
HGVS: NM_005591.4(MRE11):c.1811G>A (p.Arg604His)
Allele change: Missense_R604P

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.