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Gene | KIT |
Variant | D816X |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | KIT D816X indicates any Kit missense mutation that results in the replacement of the aspartic acid (D) at amino acid 816 by a different amino acid. |
Associated Drug Resistance | |
Category Variants Paths |
KIT mutant KIT exon17 KIT D816X |
Transcript | NM_000222.3 |
gDNA | chr4:g.54733154_54733156 |
cDNA | c.2446_2448 |
Protein | p.D816 |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_000222 | chr4:g.54733154_54733156 | c.2446_2448 | p.D816 | RefSeq | GRCh38/hg38 |
NM_001093772.1 | chr4:g.54733166_54733168 | c.2446_2448 | p.D816 | RefSeq | GRCh38/hg38 |
XM_005265741.1 | chr4:g.54733154_54733156 | c.2446_2448 | p.D816 | RefSeq | GRCh38/hg38 |
NM_001385292.1 | chr4:g.54733166_54733168 | c.2446_2448 | p.D816 | RefSeq | GRCh38/hg38 |
XM_005265741 | chr4:g.54733154_54733156 | c.2446_2448 | p.D816 | RefSeq | GRCh38/hg38 |
NM_000222.3 | chr4:g.54733154_54733156 | c.2446_2448 | p.D816 | RefSeq | GRCh38/hg38 |
NM_001093772.2 | chr4:g.54733166_54733168 | c.2446_2448 | p.D816 | RefSeq | GRCh38/hg38 |
XM_017008179 | chr4:g.54733166_54733168 | c.2446_2448 | p.D816 | RefSeq | GRCh38/hg38 |
NM_000222.2 | chr4:g.54733154_54733156 | c.2446_2448 | p.D816 | RefSeq | GRCh38/hg38 |
NM_001385290.1 | chr4:g.54733154_54733156 | c.2446_2448 | p.D816 | RefSeq | GRCh38/hg38 |
XM_017008179.1 | chr4:g.54733166_54733168 | c.2446_2448 | p.D816 | RefSeq | GRCh38/hg38 |
NM_001093772 | chr4:g.54733166_54733168 | c.2446_2448 | p.D816 | RefSeq | GRCh38/hg38 |
Molecular Profile | Protein Effect | Treatment Approaches |
---|---|---|
KIT D816X | unknown |