Gene Variant Detail

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Gene ATM
Variant C730Y
Impact List missense
Protein Effect unknown
Gene Variant Descriptions ATM C730Y does not lie within any known functional domains of the Atm protein (UniProt.org). C730Y has not been characterized in the scientific literature and therefore, its effect on Atm protein function is unknown (PubMed, Oct 2024).
Associated Drug Resistance
Category Variants Paths

ATM mutant ATM C730Y

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Transcript NM_000051.4
gDNA chr11:g.108256279G>A
cDNA c.2189G>A
Protein p.C730Y
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_011542840.3 chr11:g.108256279G>A c.2189G>A p.C730Y RefSeq GRCh38/hg38
XM_011542843.2 chr11:g.108256279G>A c.2189G>A p.C730Y RefSeq GRCh38/hg38
XM_017017792 chr11:g.108256279G>A c.2189G>A p.C730Y RefSeq GRCh38/hg38
XM_011542843 chr11:g.108256279G>A c.2189G>A p.C730Y RefSeq GRCh38/hg38
XM_006718843 chr11:g.108256279G>A c.2189G>A p.C730Y RefSeq GRCh38/hg38
XM_017017789.2 chr11:g.108256279G>A c.2189G>A p.C730Y RefSeq GRCh38/hg38
XM_017017789 chr11:g.108256279G>A c.2189G>A p.C730Y RefSeq GRCh38/hg38
XM_005271562.5 chr11:g.108256279G>A c.2189G>A p.C730Y RefSeq GRCh38/hg38
XM_017017790.3 chr11:g.108256279G>A c.2189G>A p.C730Y RefSeq GRCh38/hg38
XM_011542840.4 chr11:g.108256279G>A c.2189G>A p.C730Y RefSeq GRCh38/hg38
NM_000051 chr11:g.108256279G>A c.2189G>A p.C730Y RefSeq GRCh38/hg38
XM_047426976.1 chr11:g.108256279G>A c.2189G>A p.C730Y RefSeq GRCh38/hg38
NM_000051.3 chr11:g.108256279G>A c.2189G>A p.C730Y RefSeq GRCh38/hg38
XM_017017791 chr11:g.108256279G>A c.2189G>A p.C730Y RefSeq GRCh38/hg38
NM_000051.4 chr11:g.108256279G>A c.2189G>A p.C730Y RefSeq GRCh38/hg38
XM_047426981.1 chr11:g.108256279G>A c.2189G>A p.C730Y RefSeq GRCh38/hg38
XM_017017792.2 chr11:g.108256279G>A c.2189G>A p.C730Y RefSeq GRCh38/hg38
XM_017017791.1 chr11:g.108256279G>A c.2189G>A p.C730Y RefSeq GRCh38/hg38
XM_017017790.2 chr11:g.108256279G>A c.2189G>A p.C730Y RefSeq GRCh38/hg38
NM_001351834.2 chr11:g.108256279G>A c.2189G>A p.C730Y RefSeq GRCh38/hg38
XM_006718843.5 chr11:g.108256279G>A c.2189G>A p.C730Y RefSeq GRCh38/hg38
XM_006718843.4 chr11:g.108256279G>A c.2189G>A p.C730Y RefSeq GRCh38/hg38
XM_005271562.6 chr11:g.108256279G>A c.2189G>A p.C730Y RefSeq GRCh38/hg38
XM_047426975.1 chr11:g.108256279G>A c.2189G>A p.C730Y RefSeq GRCh38/hg38
XM_005271562 chr11:g.108256279G>A c.2189G>A p.C730Y RefSeq GRCh38/hg38
XM_017017790 chr11:g.108256279G>A c.2189G>A p.C730Y RefSeq GRCh38/hg38
XM_005271561 chr11:g.108256279G>A c.2189G>A p.C730Y RefSeq GRCh38/hg38
XM_011542843.3 chr11:g.108256279G>A c.2189G>A p.C730Y RefSeq GRCh38/hg38
NM_001351834.1 chr11:g.108256279G>A c.2189G>A p.C730Y RefSeq GRCh38/hg38
XM_011542840 chr11:g.108256279G>A c.2189G>A p.C730Y 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
  • Hold down the Shift key and click multiple columns to sort by more than one column. Be sure to set ascending or descending order for a given column before moving on to the next column.

Molecular Profile Protein Effect Treatment Approaches
ATM C730Y unknown