Variant (rsID / SNP)
rs147771140
rs147771140 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MRE11. Location: chromosome 11, position 94,211,976. Clinical significance in the table: Conflicting interpretations of pathogenicity.
Reference-table entries
MRE11Conflicting interpretations
- Clinical significance (as recorded)
- Conflicting interpretations of pathogenicity
- Variant type
- single nucleotide variant
- Chromosome / position
- 11:94211976
- Cytoband
- 11q21
- HGVS
- NM_005591.4(MRE11):c.469A>G (p.Met157Val)
- Allele change
- Missense_M157V
Associated conditions / phenotypes
Hereditary cancer-predisposing syndrome|Ataxia-telangiectasia-like disorder|Hereditary breast ovarian cancer syndrome|Ataxia-telangiectasia-like disorder 1
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.
