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Gene | FGFR1 |
Variant | R78H |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | FGFR1 R78H lies within Ig-like C2-type domain 1 of the Fgfr1 protein (UniProt.org). R78H has not been characterized and therefore, its effect on Fgfr1 protein function is unknown (PubMed, Oct 2024). |
Associated Drug Resistance | |
Category Variants Paths |
FGFR1 mutant FGFR1 R78H |
Transcript | NM_023110.3 |
gDNA | chr8:g.38429807C>T |
cDNA | c.233G>A |
Protein | p.R78H |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |