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Gene | KMT2A |
Variant | R1151* |
Impact List | nonsense |
Protein Effect | loss of function - predicted |
Gene Variant Descriptions | KMT2A R1151* results in a premature truncation of the Kmt2a protein at amino acid 1151 of 3969 (UniProt.org). Due to the loss of all known functional domains (UniProt.org), R1151* is predicted to lead to a loss of Kmt2a protein function. |
Associated Drug Resistance |
Transcript | NM_005933.3 |
gDNA | chr11:g.118478083C>T |
cDNA | c.3451C>T |
Protein | p.R1151* |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_005933.3 | chr11:g.118478083C>T | c.3451C>T | p.R1151* | RefSeq | GRCh38/hg38 |
NM_001197104.1 | chr11:g.118478083C>T | c.3451C>T | p.R1151* | RefSeq | GRCh38/hg38 |
NM_005933 | chr11:g.118478083C>T | c.3451C>T | p.R1151* | RefSeq | GRCh38/hg38 |
NM_001197104 | chr11:g.118478083C>T | c.3451C>T | p.R1151* | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
---|
Molecular Profile | Protein Effect | Treatment Approaches |
---|---|---|
KMT2A R1151* | loss of function - predicted |