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Gene | KMT2A |
Variant | E1361* |
Impact List | nonsense |
Protein Effect | loss of function - predicted |
Gene Variant Descriptions | KMT2A E1361* results in a premature truncation of the Kmt2a protein at amino acid 1361 of 3969 (UniProt.org). Due to the loss of all known functional domains (UniProt.org), E1361* is predicted to lead to a loss of Kmt2a protein function. |
Associated Drug Resistance | |
Category Variants Paths |
KMT2A mutant KMT2A inact mut KMT2A E1361* |
Transcript | NM_005933.4 |
gDNA | chr11:g.118482490G>T |
cDNA | c.4081G>T |
Protein | p.E1361* |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_005933 | chr11:g.118482490G>T | c.4081G>T | p.E1361* | RefSeq | GRCh38/hg38 |
NM_001197104 | chr11:g.118482490G>T | c.4081G>T | p.E1361* | RefSeq | GRCh38/hg38 |
NM_001197104.2 | chr11:g.118482490G>T | c.4081G>T | p.E1361* | RefSeq | GRCh38/hg38 |
NM_005933.3 | chr11:g.118482490G>T | c.4081G>T | p.E1361* | RefSeq | GRCh38/hg38 |
NM_001197104.1 | chr11:g.118482490G>T | c.4081G>T | p.E1361* | RefSeq | GRCh38/hg38 |
NM_005933.4 | chr11:g.118482490G>T | c.4081G>T | p.E1361* | RefSeq | GRCh38/hg38 |
Clinical Trial | Phase | Therapies | Title | Recruitment Status | Covered Countries | Other Countries |
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