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Gene | ALK |
Variant | L1198H |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | ALK L1198H lies within the protein kinase domain of the Alk protein (UniProt.org). L1198H has been demonstrated to occur as a secondary drug resistance mutation in the context of ALK compound mutations (PMID: 29650534), but has not been biochemically characterized and therefore, its effect on Alk protein function is unknown (PubMed, Aug 2024). |
Associated Drug Resistance | Y |
Category Variants Paths |
ALK mutant ALK L1198X ALK L1198H |
Transcript | NM_004304.5 |
gDNA | chr2:g.29220758A>T |
cDNA | c.3593T>A |
Protein | p.L1198H |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_004304 | chr2:g.29220758A>T | c.3593T>A | p.L1198H | RefSeq | GRCh38/hg38 |
NM_004304.5 | chr2:g.29220758A>T | c.3593T>A | p.L1198H | RefSeq | GRCh38/hg38 |
NM_004304.4 | chr2:g.29220758A>T | c.3593T>A | p.L1198H | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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