Variant (rsID / SNP)
rs8880
rs8880 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to RPL11. Location: chromosome 1, position 24,021,224. Clinical significance in the table: Benign.
Reference-table entries
RPL11Benign
- Clinical significance (as recorded)
- Benign
- Variant type
- single nucleotide variant
- Chromosome / position
- 1:24021224
- Cytoband
- 1p36.11
- HGVS
- NM_000975.5(RPL11):c.339C>T (p.Ile113=)
- Allele change
- Synonymous_I112I
Associated conditions / phenotypes
Diamond-Blackfan anemia|Diamond-Blackfan anemia 7
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.