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Variant (rsID / SNP)

rs143105337

RB1

rs143105337 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to RB1. Location: chromosome 13, position 49,050,942. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

RB1Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
13:49050942
Cytoband
13q14.2
HGVS
NM_000321.3(RB1):c.2626C>T (p.Arg876Cys)
Allele change
Missense_R876C

Associated conditions / phenotypes

Hereditary cancer-predisposing syndrome|Retinoblastoma

Public references

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