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Gene | KMT2A |
Variant | R2160Q |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | KMT2A R2160Q does not lie within any known functional domains of the Kmt2a protein (UniProt.org). R2160Q has been identified in sequencing studies (PMID: 26343386), but has not been biochemically characterized and therefore, its effect on Kmt2a protein function is unknown (PubMed, Aug 2024). |
Associated Drug Resistance | |
Category Variants Paths |
KMT2A mutant KMT2A R2160Q |
Transcript | NM_005933.4 |
gDNA | chr11:g.118501840G>A |
cDNA | c.6479G>A |
Protein | p.R2160Q |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_005933 | chr11:g.118501840G>A | c.6479G>A | p.R2160Q | RefSeq | GRCh38/hg38 |
XM_011542829.3 | chr11:g.118501732G>A | c.6479G>A | p.R2160Q | RefSeq | GRCh38/hg38 |
XM_011542829.2 | chr11:g.118501732G>A | c.6479G>A | p.R2160Q | RefSeq | GRCh38/hg38 |
XM_011542829 | chr11:g.118501732G>A | c.6479G>A | p.R2160Q | RefSeq | GRCh38/hg38 |
NM_005933.4 | chr11:g.118501840G>A | c.6479G>A | p.R2160Q | RefSeq | GRCh38/hg38 |
NM_005933.3 | chr11:g.118501840G>A | c.6479G>A | p.R2160Q | RefSeq | GRCh38/hg38 |
Clinical Trial | Phase | Therapies | Title | Recruitment Status | Covered Countries | Other Countries |
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