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Variant (rsID / SNP)

rs143477104

RPS19

rs143477104 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to RPS19. Location: chromosome 19, position 42,364,912. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

RPS19Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
19:42364912
Cytoband
19q13.2
HGVS
NM_001022.4(RPS19):c.68A>G (p.Lys23Arg)
Allele change
Missense_K23R

Associated conditions / phenotypes

Diamond-Blackfan anemia|Diamond-Blackfan anemia 1

Public references

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