Variant (rsID / SNP)

rs185439615

rs185439615 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MRE11. Location: chromosome 11, position 94,204,896. Clinical significance in the table: Uncertain significance.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

MRE11Uncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Chromosome / position: 11:94204896
Cytoband: 11q21
HGVS: NM_005591.4(MRE11):c.689C>T (p.Pro230Leu)
Allele change: Missense_P230L

Associated conditions / phenotypes

Hereditary cancer-predisposing syndrome|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.