Variant (rsID / SNP)

rs1131017

rs1131017 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to RPS26. Location: chromosome 12, position 56,435,929. Clinical significance in the table: Benign.

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Reference-table entries

RPS26Benign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 12:56435929
Cytoband: 12q13.2
HGVS: NM_001029.5(RPS26):c.-22C>G
Allele change: Silent

Associated conditions / phenotypes

Diamond-Blackfan anemia 10

Public references

dbSNP
ClinVar
Ensembl
gnomAD

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.