Variant (rsID / SNP)
rs116679717
rs116679717 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MRE11. Location: chromosome 11, position 94,224,031. Clinical significance in the table: Benign/Likely benign.
Reference-table entries
MRE11Benign
- Clinical significance (as recorded)
- Benign/Likely benign
- Variant type
- single nucleotide variant
- Chromosome / position
- 11:94224031
- Cytoband
- 11q21
- HGVS
- NM_005591.4(MRE11):c.121G>A (p.Asp41Asn)
- Allele change
- Missense_D41N
Associated conditions / phenotypes
Hereditary cancer-predisposing syndrome|Ataxia-telangiectasia-like disorder 1|Ataxia-telangiectasia-like disorder|Hereditary breast ovarian cancer syndrome
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.
