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| Gene | RB1 |
| Variant | L797fs |
| Impact List | frameshift |
| Protein Effect | unknown |
| Gene Variant Descriptions | RB1 L797fs results in a change in the amino acid sequence of the Rb1 protein beginning at aa 797 of 928, likely resulting in premature truncation of the functional protein (UniProt.org). L797fs has not been characterized in the scientific literature and therefore, its effect on Rb1 protein function is unknown (PubMed, Mar 2026). |
| Associated Drug Resistance | |
| Category Variants Paths |
RB1 mutant RB1 L797fs |
| Transcript | NM_000321.3 |
| gDNA | chr13:g.(48465267_48465268) |
| cDNA | c.(2389_2388) |
| Protein | p.L797fs |
| Source Database | RefSeq |
| Genome Build | GRCh38/hg38 |
| Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
|---|---|---|---|---|---|
| NM_000321.3 | chr13:g.(48465267_48465268) | c.(2389_2388) | p.L797fs | RefSeq | GRCh38/hg38 |
| NM_000321 | chr13:g.(48465267_48465268) | c.(2389_2388) | p.L797fs | RefSeq | GRCh38/hg38 |
| NM_001407165.1 | chr13:g.(48465267_48465268) | c.(2389_2388) | p.L797fs | RefSeq | GRCh38/hg38 |
| NM_000321.2 | chr13:g.(48465267_48465268) | c.(2389_2388) | p.L797fs | RefSeq | GRCh38/hg38 |
| Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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