Variant (rsID / SNP)

rs116840808

rs116840808 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to RPL35A. Location: chromosome 3, position 197,678,115. 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: 3:197678115
Cytoband: 3q29
HGVS: NM_000996.4(RPL35A):c.97G>A (p.Val33Ile)
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.