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Gene | ALK |
Variant | H1030P |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | ALK H1030P lies within the extracellular domain of the ALK protein (UniProt.org). H1030P has been identified in sequencing studies (PMID: 25275298), but has not been biochemically characterized and therefore, its effect on Alk protein function is unknown (PubMed, Aug 2024). |
Associated Drug Resistance | |
Category Variants Paths |
ALK mutant ALK H1030P |
Transcript | NM_004304.5 |
gDNA | chr2:g.29225544T>G |
cDNA | c.3089A>C |
Protein | p.H1030P |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_004304.5 | chr2:g.29225544T>G | c.3089A>C | p.H1030P | RefSeq | GRCh38/hg38 |
NM_004304 | chr2:g.29225544T>G | c.3089A>C | p.H1030P | RefSeq | GRCh38/hg38 |
NM_004304.4 | chr2:g.29225544T>G | c.3089A>C | p.H1030P | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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