Variant (rsID / SNP)

rs121913295

rs121913295 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to RB1. Location: chromosome 13, position 49,037,877. Clinical significance in the table: Likely pathogenic.

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Reference-table entries

RB1Likely pathogenic

Clinical significance (as recorded): Likely pathogenic
Variant type: single nucleotide variant
Chromosome / position: 13:49037877
Cytoband: 13q14.2
HGVS: NM_000321.3(RB1):c.2117G>T (p.Cys706Phe)
Allele change: Missense_C706F

Associated conditions / phenotypes

Small cell lung carcinoma

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.