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KIT c.1769G>C ;(p.S590T)
Variant ID: 4-55593703-G-C
NM_000222.2(
KIT
):c.1769G>C;(p.S590T)
This variant was identified in 2 publications
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
Refinement of evolutionary medicine predictions based on clinical evidence for the manifestations of Mendelian diseases.
Scientific Reports
Šimčíková, Daniela D; Heneberg, Petr P
Publication Date: 2019-12-09
Variant appearance in text: KIT: S590T
PubMed Link:
31819097
Variant Present in the following documents:
41598_2019_54976_MOESM2_ESM.xlsx, sheet 8
View BVdb publication page
RTK-RAS pathway mutation is enriched in myeloid sarcoma.
Blood Cancer Journal
Choi, Mihong M; Jeon, Yoon Kyung YK; Sun, Choong-Hyun CH; Yun, Hong-Seok HS; Hong, Junshik J; Shin, Dong-Yeop DY; Kim, Inho I; Yoon, Sung-Soo SS; Koh, Youngil Y
Publication Date: 2018-05-23
Variant appearance in text: KIT: 1769G>C; S590T
PubMed Link:
29789584
Variant Present in the following documents:
Main text
41408_2018_Article_83.pdf
View BVdb publication page