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KIT c.135_138del ;(p.D45Efs*2)
Variant ID: 4-55561743-GACTT-G
NM_000222.2(
KIT
):c.135_138del;(p.D45Efs*2)
This variant was identified in 1 publication
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
Identification of Germline Mutations in Upper Tract Urothelial Carcinoma With Suspected Lynch Syndrome.
Frontiers In Oncology
Guan, Bao B; Wang, Jie J; Li, Xuesong X; Lin, Lin L; Fang, Dong D; Kong, Wenwen W; Tian, Chuangyu C; Li, Juan J; Yang, Kunlin K; Han, Guanpeng G; Wu, Yucai Y; He, Yuhui Y; Peng, Yiji Y; Yu, Yanfei Y; He, Qun Q; He, Shiming S; Gong, Yanqing Y; Zhou, Liqun L; Tang, Qi Q
Publication Date: 2022
Variant appearance in text: KIT: 135_138delCTTA; Asp45fs
PubMed Link:
35372080
Variant Present in the following documents:
Table_5.xlsx, sheet 1
View BVdb publication page