Variant (rsID / SNP)

rs116840809

rs116840809 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to RPL35A. Location: chromosome 3, position 197,681,013. Clinical significance in the table: Pathogenic.

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Reference-table entries

RPL35APathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 3:197681013
Cytoband: 3q29
HGVS: NM_000996.4(RPL35A):c.304C>T (p.Arg102Ter)
Allele change: Silent

Associated conditions / phenotypes

Diamond-Blackfan anemia 5

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.