Missing content? – Request curation!
Request curation for specific Genes, Variants, or PubMed publications.
Have questions, comments, or suggestions? - Let us know!
Email us at : ckbsupport@genomenon.com
Gene | KMT2A |
Variant | F1481L |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | KMT2A F1481L lies within PHD-type zinc finger domains 1 and 2 of the Kmt2a protein (UniProt.org). F1481L has not been characterized in the scientific literature and therefore, its effect on Kmt2a protein function is unknown (PubMed, Aug 2024). |
Associated Drug Resistance | |
Category Variants Paths |
KMT2A mutant KMT2A F1481L |
Transcript | NM_005933.4 |
gDNA | chr11:g.118488722T>C |
cDNA | c.4441T>C |
Protein | p.F1481L |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_001197104 | chr11:g.118488722T>C | c.4441T>C | p.F1481L | RefSeq | GRCh38/hg38 |
NM_005933 | chr11:g.118488722T>C | c.4441T>C | p.F1481L | RefSeq | GRCh38/hg38 |
NM_001197104.2 | chr11:g.118488722T>C | c.4441T>C | p.F1481L | RefSeq | GRCh38/hg38 |
NM_001197104.1 | chr11:g.118488722T>C | c.4441T>C | p.F1481L | RefSeq | GRCh38/hg38 |
NM_005933.4 | chr11:g.118488722T>C | c.4441T>C | p.F1481L | RefSeq | GRCh38/hg38 |
NM_005933.3 | chr11:g.118488722T>C | c.4441T>C | p.F1481L | RefSeq | GRCh38/hg38 |
Molecular Profile | Protein Effect | Treatment Approaches |
---|---|---|
KMT2A F1481L | unknown |