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Gene RB1
Variant R7fs
Impact List frameshift
Protein Effect loss of function - predicted
Gene Variant Descriptions RB1 R7fs results in a change in the amino acid sequence of the Rb1 protein beginning at 7 of 928, likely resulting in premature truncation of the functional protein (UniProt.org). Due to the loss of all known functional domains (UniProt.org), R7fs is predicted to lead to a loss of Rb1 protein function.
Associated Drug Resistance
Category Variants Paths

RB1 mutant RB1 inact mut RB1 R7fs

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Transcript NM_000321.3
gDNA chr13:g.(48303930_48303931)
cDNA c.(19_18)
Protein p.R7fs
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001407167.1 chr13:g.(48303930_48303931) c.(19_18) p.R7fs RefSeq GRCh38/hg38
NM_000321.2 chr13:g.(48303930_48303931) c.(19_18) p.R7fs RefSeq GRCh38/hg38
NM_001407165.1 chr13:g.(48303930_48303931) c.(19_18) p.R7fs RefSeq GRCh38/hg38
NM_001407168.1 chr13:g.(48476748_48476749) c.(19_18) p.R7fs RefSeq GRCh38/hg38
NM_000321 chr13:g.(48303930_48303931) c.(19_18) p.R7fs RefSeq GRCh38/hg38
NM_001407166.1 chr13:g.(48303930_48303931) c.(19_18) p.R7fs RefSeq GRCh38/hg38
NM_000321.3 chr13:g.(48303930_48303931) c.(19_18) p.R7fs RefSeq GRCh38/hg38

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  • Separate multiple filter terms with a space. Any order may be used (i. e. a b c and c b a are equivalent )
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  • Use quotes to match on a longer phrase with spaces (i.e. "mtor c1483f")

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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References