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Gene | KMT2A |
Variant | R1064* |
Impact List | nonsense |
Protein Effect | loss of function - predicted |
Gene Variant Descriptions | KMT2A R1064* results in a premature truncation of the Kmt2a protein at amino acid 1064 of 3969 (UniProt.org). Due to the loss of all known functional domains (UniProt.org), R1064* is predicted to lead to a loss of Kmt2a protein function. |
Associated Drug Resistance | |
Category Variants Paths |
KMT2A mutant KMT2A inact mut KMT2A R1064* |
Transcript | NM_005933.4 |
gDNA | chr11:g.118476838C>T |
cDNA | c.3190C>T |
Protein | p.R1064* |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_005933.4 | chr11:g.118476838C>T | c.3190C>T | p.R1064* | RefSeq | GRCh38/hg38 |
NM_001197104 | chr11:g.118476838C>T | c.3190C>T | p.R1064* | RefSeq | GRCh38/hg38 |
NM_005933 | chr11:g.118476838C>T | c.3190C>T | p.R1064* | RefSeq | GRCh38/hg38 |
NM_001197104.2 | chr11:g.118476838C>T | c.3190C>T | p.R1064* | RefSeq | GRCh38/hg38 |
NM_001197104.1 | chr11:g.118476838C>T | c.3190C>T | p.R1064* | RefSeq | GRCh38/hg38 |
NM_005933.3 | chr11:g.118476838C>T | c.3190C>T | p.R1064* | RefSeq | GRCh38/hg38 |
Molecular Profile | Protein Effect | Treatment Approaches |
---|---|---|
KMT2A R1064* | loss of function - predicted |