TSC1 A186fs
Gene Variant Detail

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Gene TSC1
Variant A186fs
Impact List frameshift
Protein Effect loss of function - predicted
Gene Variant Descriptions TSC1 A186fs results in a change in the amino acid sequence of the Tsc1 protein beginning at aa 186 of 1164, likely resulting in premature truncation of the functional protein (UniProt.org). A186fs has not been characterized however, due to the effects of other truncation mutations downstream of A186 (PMID: 11875047, PMID: 20547222), is predicted to lead to a loss of Tsc1 protein function.
Associated Drug Resistance
Category Variants Paths

TSC1 mutant TSC1 inact mut TSC1 A186fs

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Transcript NM_000368.5
gDNA chr9:g.(132921926_132921927)
cDNA c.(556_555)
Protein p.A186fs
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001406607.1 chr9:g.(132921926_132921927) c.(556_555) p.A186fs RefSeq GRCh38/hg38
NM_001406625.1 chr9:g.(132911563_132911564) c.(556_555) p.A186fs RefSeq GRCh38/hg38
NM_001406623.1 chr9:g.(132911563_132911564) c.(556_555) p.A186fs RefSeq GRCh38/hg38
NM_001406598.1 chr9:g.(132921926_132921927) c.(556_555) p.A186fs RefSeq GRCh38/hg38
NM_001406608.1 chr9:g.(132921926_132921927) c.(556_555) p.A186fs RefSeq GRCh38/hg38
NM_001406597.1 chr9:g.(132921926_132921927) c.(556_555) p.A186fs RefSeq GRCh38/hg38
XM_006717271.1 chr9:g.(132921926_132921927) c.(556_555) p.A186fs RefSeq GRCh38/hg38
NM_001406616.1 chr9:g.(132911563_132911564) c.(556_555) p.A186fs RefSeq GRCh38/hg38
NM_001406624.1 chr9:g.(132911563_132911564) c.(556_555) p.A186fs RefSeq GRCh38/hg38
NM_001406594.1 chr9:g.(132921926_132921927) c.(556_555) p.A186fs RefSeq GRCh38/hg38
NM_000368.5 chr9:g.(132921926_132921927) c.(556_555) p.A186fs RefSeq GRCh38/hg38
NM_001406601.1 chr9:g.(132921926_132921927) c.(556_555) p.A186fs RefSeq GRCh38/hg38
NM_001362177.2 chr9:g.(132911563_132911564) c.(556_555) p.A186fs RefSeq GRCh38/hg38
NM_001406619.1 chr9:g.(132911563_132911564) c.(556_555) p.A186fs RefSeq GRCh38/hg38
NM_001406606.1 chr9:g.(132921926_132921927) c.(556_555) p.A186fs RefSeq GRCh38/hg38
NM_000368.4 chr9:g.(132921926_132921927) c.(556_555) p.A186fs RefSeq GRCh38/hg38
NM_001406622.1 chr9:g.(132911563_132911564) c.(556_555) p.A186fs RefSeq GRCh38/hg38
NM_001406615.1 chr9:g.(132911563_132911564) c.(556_555) p.A186fs RefSeq GRCh38/hg38
NM_001406618.1 chr9:g.(132911563_132911564) c.(556_555) p.A186fs RefSeq GRCh38/hg38
NM_001406614.1 chr9:g.(132911563_132911564) c.(556_555) p.A186fs RefSeq GRCh38/hg38
NM_001162426.1 chr9:g.(132921926_132921927) c.(556_555) p.A186fs RefSeq GRCh38/hg38
NM_001406620.1 chr9:g.(132911563_132911564) c.(556_555) p.A186fs RefSeq GRCh38/hg38
NM_001406596.1 chr9:g.(132921926_132921927) c.(556_555) p.A186fs RefSeq GRCh38/hg38
NM_001406600.1 chr9:g.(132921926_132921927) c.(556_555) p.A186fs RefSeq GRCh38/hg38
NM_001406595.1 chr9:g.(132921926_132921927) c.(556_555) p.A186fs RefSeq GRCh38/hg38
XM_011518979.3 chr9:g.(132921926_132921927) c.(556_555) p.A186fs RefSeq GRCh38/hg38
NM_001406592.1 chr9:g.(132921926_132921927) c.(556_555) p.A186fs RefSeq GRCh38/hg38
NM_001406617.1 chr9:g.(132911563_132911564) c.(556_555) p.A186fs RefSeq GRCh38/hg38
NM_001406621.1 chr9:g.(132911563_132911564) c.(556_555) p.A186fs RefSeq GRCh38/hg38
NM_001406604.1 chr9:g.(132921926_132921927) c.(556_555) p.A186fs RefSeq GRCh38/hg38
NM_001406593.1 chr9:g.(132921926_132921927) c.(556_555) p.A186fs RefSeq GRCh38/hg38
NM_001406605.1 chr9:g.(132921926_132921927) c.(556_555) p.A186fs RefSeq GRCh38/hg38
NM_001406603.1 chr9:g.(132921926_132921927) c.(556_555) p.A186fs RefSeq GRCh38/hg38
NM_001406602.1 chr9:g.(132921926_132921927) c.(556_555) p.A186fs RefSeq GRCh38/hg38
NM_001162426.2 chr9:g.(132921926_132921927) c.(556_555) p.A186fs RefSeq GRCh38/hg38
NM_001406609.1 chr9:g.(132921926_132921927) c.(556_555) p.A186fs RefSeq GRCh38/hg38
NM_001406599.1 chr9:g.(132921926_132921927) c.(556_555) p.A186fs RefSeq GRCh38/hg38

Filtering

  • Case insensitive filtering will display rows if any text in any cell matches the filter term
  • 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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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References