Variant (rsID / SNP)
rs137868143
rs137868143 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MRE11. Location: chromosome 11, position 94,204,763. 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
- 11:94204763
- Cytoband
- 11q21
- HGVS
- NM_005591.4(MRE11):c.822T>C (p.Leu274=)
- Allele change
- Synonymous_L274L
Associated conditions / phenotypes
Hereditary cancer-predisposing syndrome|Ataxia-telangiectasia-like disorder 1|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.
