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| Gene | FGFR1 |
| Variant | R120H |
| Impact List | missense |
| Protein Effect | unknown |
| Gene Variant Descriptions | FGFR1 R120H (corresponds to R209H in the canonical isoform) lies within the extracellular domain of the Fgfr1 protein (UniProt.org). R120H has been identified in sequencing studies (PMID: 30503610), but has not been biochemically characterized and therefore, its effect on Fgfr1 protein function is unknown (PubMed, May 2025). |
| Associated Drug Resistance | |
| Category Variants Paths |
FGFR1 mutant FGFR1 R120H |
| Transcript | NM_023105.3 |
| gDNA | chr8:g.38426241C>T |
| cDNA | c.359G>A |
| Protein | p.R120H |
| Source Database | RefSeq |
| Genome Build | GRCh38/hg38 |
| Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
|---|---|---|---|---|---|
| XM_006716312.2 | chr8:g.38426241C>T | c.359G>A | p.R120H | RefSeq | GRCh38/hg38 |
| XM_006716311.1 | chr8:g.38426241C>T | c.359G>A | p.R120H | RefSeq | GRCh38/hg38 |
| XM_006716310.3 | chr8:g.38426241C>T | c.359G>A | p.R120H | RefSeq | GRCh38/hg38 |
| NM_001174066.2 | chr8:g.38426241C>T | c.359G>A | p.R120H | RefSeq | GRCh38/hg38 |
| XM_047421573.1 | chr8:g.38426241C>T | c.359G>A | p.R120H | RefSeq | GRCh38/hg38 |
| XM_006716312.2 | chr8:g.38426241C>T | c.359G>A | p.R120H | RefSeq | GRCh38/hg38 |
| XM_006716311.1 | chr8:g.38426241C>T | c.359G>A | p.R120H | RefSeq | GRCh38/hg38 |
| NM_023105.3 | chr8:g.38426241C>T | c.359G>A | p.R120H | RefSeq | GRCh38/hg38 |
| XM_006716310.4 | chr8:g.38426241C>T | c.359G>A | p.R120H | RefSeq | GRCh38/hg38 |
| NM_023105.2 | chr8:g.38426241C>T | c.359G>A | p.R120H | RefSeq | GRCh38/hg38 |
| XM_006716311 | chr8:g.38426241C>T | c.359G>A | p.R120H | RefSeq | GRCh38/hg38 |
| NM_001174066.1 | chr8:g.38426241C>T | c.359G>A | p.R120H | RefSeq | GRCh38/hg38 |
| XM_006716312 | chr8:g.38426241C>T | c.359G>A | p.R120H | RefSeq | GRCh38/hg38 |
| NM_023105 | chr8:g.38426241C>T | c.359G>A | p.R120H | RefSeq | GRCh38/hg38 |
| XM_006716310 | chr8:g.38426241C>T | c.359G>A | p.R120H | RefSeq | GRCh38/hg38 |
| NM_001174066 | chr8:g.38426241C>T | c.359G>A | p.R120H | RefSeq | GRCh38/hg38 |
| Clinical Trial | Phase | Therapies | Title | Recruitment Status | Covered Countries | Other Countries |
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