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Gene | KIT |
Variant | V559X |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | KIT V559X indicates any Kit missense mutation that results in the replacement of the valine (V) at amino acid 559 by a different amino acid. |
Associated Drug Resistance | |
Category Variants Paths |
KIT mutant KIT exon11 KIT V559X |
Transcript | NM_000222.3 |
gDNA | chr4:g.54727443_54727445 |
cDNA | c.1675_1677 |
Protein | p.V559 |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
XM_017008178.1 | chr4:g.54727443_54727445 | c.1675_1677 | p.V559 | RefSeq | GRCh38/hg38 |
NM_000222.3 | chr4:g.54727443_54727445 | c.1675_1677 | p.V559 | RefSeq | GRCh38/hg38 |
NM_000222.2 | chr4:g.54727443_54727445 | c.1675_1677 | p.V559 | RefSeq | GRCh38/hg38 |
NM_001385285.1 | chr4:g.54727443_54727445 | c.1675_1677 | p.V559 | RefSeq | GRCh38/hg38 |
Molecular Profile | Protein Effect | Treatment Approaches |
---|---|---|
KIT V559X | unknown | |
KIT V559X KIT N822I |