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Gene | ATM |
Variant | S2761Vfs*41 |
Impact List | frameshift |
Protein Effect | loss of function - predicted |
Gene Variant Descriptions | ATM S2761Vfs*41 indicates a shift in the reading frame starting at amino acid 2761 and terminating 41 residues downstream causing a premature truncation of the 3056 amino acid Atm protein (UniProt.org). S2761Vfs*41 has not been characterized, however, due to the effects of other truncation mutations downstream of S2761 (PMID: 16603769), is predicted to lead to a loss of Atm protein function. |
Associated Drug Resistance | |
Category Variants Paths |
ATM mutant ATM inact mut ATM S2761Vfs*41 |
Transcript | NM_000051.4 |
gDNA | chr11:g.(108343234_108343359) |
cDNA | c.(8281_8406) |
Protein | p.S2761Vfs*41 |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
XM_005271562.6 | chr11:g.(108343234_108343359) | c.(8281_8406) | p.S2761Vfs*41 | RefSeq | GRCh38/hg38 |
XM_047426975.1 | chr11:g.(108343234_108343359) | c.(8281_8406) | p.S2761Vfs*41 | RefSeq | GRCh38/hg38 |
XM_047426976.1 | chr11:g.(108343234_108343359) | c.(8281_8406) | p.S2761Vfs*41 | RefSeq | GRCh38/hg38 |
XM_011542843.3 | chr11:g.(108343234_108343359) | c.(8281_8406) | p.S2761Vfs*41 | RefSeq | GRCh38/hg38 |
XM_006718843.5 | chr11:g.(108343234_108343359) | c.(8281_8406) | p.S2761Vfs*41 | RefSeq | GRCh38/hg38 |
NM_001351834.2 | chr11:g.(108343234_108343359) | c.(8281_8406) | p.S2761Vfs*41 | RefSeq | GRCh38/hg38 |
XM_017017790.3 | chr11:g.(108343234_108343359) | c.(8281_8406) | p.S2761Vfs*41 | RefSeq | GRCh38/hg38 |
XM_011542840.4 | chr11:g.(108343234_108343359) | c.(8281_8406) | p.S2761Vfs*41 | RefSeq | GRCh38/hg38 |
NM_000051.4 | chr11:g.(108343234_108343359) | c.(8281_8406) | p.S2761Vfs*41 | RefSeq | GRCh38/hg38 |
Clinical Trial | Phase | Therapies | Title | Recruitment Status | Covered Countries | Other Countries |
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