Variant (rsID / SNP)

rs116840807

rs116840807 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to RPL35A. Location: chromosome 3, position 197,678,097. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

RPL35AConflicting interpretations

Clinical significance (as recorded): Conflicting interpretations of pathogenicity
Variant type: Microsatellite
Chromosome / position: 3:197678097
Cytoband: 3q29
HGVS: NM_000996.4(RPL35A):c.79CTT[1] (p.Leu28del)

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.