Genetics University — Research, Education, Medical Genetics
Knowledge Hub

Variant (rsID / SNP)

rs149359120

RB1

rs149359120 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to RB1. Location: chromosome 13, position 49,050,882. Clinical significance in the table: Conflicting interpretations of pathogenicity.

ShareE-MailWhatsAppLinkedInXFacebookTelegram

Reference-table entries

RB1Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
13:49050882
Cytoband
13q14.2
HGVS
NM_000321.3(RB1):c.2566G>A (p.Asp856Asn)
Allele change
Missense_D856N

Associated conditions / phenotypes

Retinoblastoma|Hereditary cancer-predisposing syndrome|B Lymphoblastic Leukemia/Lymphoma, Not Otherwise Specified

Public references

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