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Gene | CSF1R |
Variant | H506Y |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | CSF1R H506Y lies within the extracellular domain of the Csf1r protein (UniProt.org). H506Y has not been characterized in the scientific literature and therefore, its effect on Csf1r protein function is unknown (PubMed, Jun 2025). |
Associated Drug Resistance | |
Category Variants Paths |
CSF1R mutant CSF1R H506Y |
Transcript | NM_001288705.3 |
gDNA | chr5:g.150068325G>A |
cDNA | c.1516C>T |
Protein | p.H506Y |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |