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KIT c.2507T>C ;(p.M836T)
Variant ID: 4-55602686-T-C
NM_000222.2(
KIT
):c.2507T>C;(p.M836T)
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:
Molecular Pathology and Targeted Therapies for Personalized Management of Central Nervous System Germinoma.
Journal Of Personalized Medicine
Ilcus, Cristina C; Silaghi, Horatiu H; Georgescu, Carmen Emanuela CE; Georgiu, Carmen C; Ciurea, Anca Ileana AI; Nicoara, Simona Delia SD; Silaghi, Cristina Alina CA
Publication Date: 2021-07-14
Variant appearance in text: KIT: 2507T>C; Met836Thr
PubMed Link:
34357128
Variant Present in the following documents:
Main text
jpm-11-00661.pdf
View BVdb publication page
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: M836T
PubMed Link:
31819097
Variant Present in the following documents:
41598_2019_54976_MOESM2_ESM.xlsx, sheet 8
View BVdb publication page