Variant (rsID / SNP)

rs61762293

rs61762293 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to RPS19. Location: chromosome 19, position 42,373,208. Clinical significance in the table: Pathogenic.

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Reference-table entries

RPS19Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 19:42373208
Cytoband: 19q13.2
HGVS: NM_001022.4(RPS19):c.280C>T (p.Arg94Ter)
Allele change: Missense_P98L

Associated conditions / phenotypes

Diamond-Blackfan anemia 1

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.