RB1 R7fs
Gene Variant Detail

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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

Filtering

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  • Use simple literal full or partial string matches
  • Separate multiple filter terms with a space. Any order may be used (i. e. a b c and c b a are equivalent )
  • Filtering will only apply to rows that are already loaded on the page. Filtering has no impact on query parameters.
  • Use quotes to match on a longer phrase with spaces (i.e. "mtor c1483f")

Sorting

  • Generally, the default sort order for tables is set to be first column ascending; however, specific tables may set a different default sort order.
  • Click on any column header arrows to sort by that column
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