Variant (rsID / SNP)
rs143153871
rs143153871 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to XRCC2. Location: chromosome 7, position 152,345,927. Clinical significance in the table: Conflicting interpretations of pathogenicity.
Reference-table entries
XRCC2Conflicting interpretations
- Clinical significance (as recorded)
- Conflicting interpretations of pathogenicity
- Variant type
- single nucleotide variant
- Chromosome / position
- 7:152345927
- Cytoband
- 7q36.1
- HGVS
- NM_005431.2(XRCC2):c.643C>T (p.Arg215Ter)
- Allele change
- Nonsense_R215X
Associated conditions / phenotypes
Fanconi anemia complementation group U|Hereditary cancer-predisposing syndrome|Short stature, microcephaly, and endocrine dysfunction
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.
