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Gene | CSF3R |
Variant | S469Qfs*5 |
Impact List | frameshift |
Protein Effect | loss of function - predicted |
Gene Variant Descriptions | CSF3R S469Qfs*5 indicates a shift in the reading frame starting at amino acid 469 and terminating 5 residues downstream causing a premature truncation of the 836 amino acid Csf3r protein (UniProt.org). Due to the loss of the transmembrane and cytoplasmic domains (UniProt.org), S469Qfs*5 is predicted to lead to a loss of Csf3r protein function. |
Associated Drug Resistance | |
Category Variants Paths |
CSF3R mutant CSF3R inact mut CSF3R S469Qfs*5 |
Transcript | NM_000760.4 |
gDNA | chr1:g.36469728dupG |
cDNA | c.1404dupC |
Protein | p.S469Qfs*5 |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_000760 | chr1:g.36469722_36469723insT | c.1403_1404insA | p.S469Qfs*5 | RefSeq | GRCh38/hg38 |
XM_011540749.1 | chr1:g.36469728dupG | c.1404dupC | p.S469Qfs*5 | RefSeq | GRCh38/hg38 |
XM_005270493.1 | chr1:g.36469728dupG | c.1404dupC | p.S469Qfs*5 | RefSeq | GRCh38/hg38 |
XM_047446753.1 | chr1:g.36469728dupG | c.1404dupC | p.S469Qfs*5 | RefSeq | GRCh38/hg38 |
NM_000760.4 | chr1:g.36469728dupG | c.1404dupC | p.S469Qfs*5 | RefSeq | GRCh38/hg38 |
XM_011540748.3 | chr1:g.36469728dupG | c.1404dupC | p.S469Qfs*5 | RefSeq | GRCh38/hg38 |
NM_000760.3 | chr1:g.36469728dupG | c.1404dupC | p.S469Qfs*5 | RefSeq | GRCh38/hg38 |
XM_011540749.1 | chr1:g.36469728dupG | c.1404dupC | p.S469Qfs*5 | RefSeq | GRCh38/hg38 |
XM_005270493.1 | chr1:g.36469728dupG | c.1404dupC | p.S469Qfs*5 | RefSeq | GRCh38/hg38 |
NM_156039.3 | chr1:g.36469728dupG | c.1404dupC | p.S469Qfs*5 | RefSeq | GRCh38/hg38 |
NM_156039 | chr1:g.36469722_36469723insT | c.1403_1404insA | p.S469Qfs*5 | RefSeq | GRCh38/hg38 |
XM_011540749 | chr1:g.36469722_36469723insT | c.1403_1404insA | p.S469Qfs*5 | RefSeq | GRCh38/hg38 |
XM_017000370 | chr1:g.36469722_36469723insT | c.1403_1404insA | p.S469Qfs*5 | RefSeq | GRCh38/hg38 |
NM_172313.3 | chr1:g.36469728dupG | c.1404dupC | p.S469Qfs*5 | RefSeq | GRCh38/hg38 |
XM_005270493 | chr1:g.36469722_36469723insT | c.1403_1404insA | p.S469Qfs*5 | RefSeq | GRCh38/hg38 |
XM_017000370.1 | chr1:g.36469728dupG | c.1404dupC | p.S469Qfs*5 | RefSeq | GRCh38/hg38 |
XM_011540748 | chr1:g.36469722_36469723insT | c.1403_1404insA | p.S469Qfs*5 | RefSeq | GRCh38/hg38 |
NM_156039.3 | chr1:g.36469728dupG | c.1404dupC | p.S469Qfs*5 | RefSeq | GRCh38/hg38 |
NM_172313 | chr1:g.36469722_36469723insT | c.1403_1404insA | p.S469Qfs*5 | RefSeq | GRCh38/hg38 |
NM_172313.2 | chr1:g.36469728dupG | c.1404dupC | p.S469Qfs*5 | RefSeq | GRCh38/hg38 |
Clinical Trial | Phase | Therapies | Title | Recruitment Status | Covered Countries | Other Countries |
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