Variant (rsID / SNP)

rs147508369

rs147508369 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to RPS19. Location: chromosome 19, position 42,365,273. Clinical significance in the table: Uncertain significance.

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Reference-table entries

RPS19Uncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Chromosome / position: 19:42365273
Cytoband: 19q13.2
HGVS: NM_001022.4(RPS19):c.164C>T (p.Thr55Met)
Allele change: Missense_T55M

Associated conditions / phenotypes

Diamond-Blackfan anemia|Diamond-Blackfan anemia 1|Hepatoblastoma

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.