Full data view for gene KIT

Information The variants shown are described using the NM_000222.2 transcript reference sequence.

2 entries on 1 page. Showing entries 1 - 2.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Allele     

Type     

DNA change (genomic) (hg19)     

Reference     

DB-ID     

Frequency     

Variant remarks     

ClassClinical     

Template     

Technique     

Disease     

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α-thal genotype     

β-thal genotype     

Panel size     

Owner     
./. 08 c.1255_1257delGAC - p.Asp419del Unknown Deletion - GenBank KIT_00027 - extracellular juxtamembrane domain encoded by exon 8 is a functional area capable of regulating KIT activity and establishes this deletion as a regulatory-type mutation.imatinib was able to inhibit KIT activation caused by this mutation, - - - - - - - - - - - -
./. 12 c.1801G>A - p.Gly601Arg Unknown Substitution - GenBank KIT_00027 - - - - - - - - - - - - - -
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