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CYBB c.1249G>A ;(p.A417T)
Variant ID: X-37664356-G-A
NM_000397.3(
CYBB
):c.1249G>A;(p.A417T)
This variant was identified in 4 publications
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
Whole-exome mutational landscape of neuroendocrine carcinomas of the gallbladder.
Signal Transduction And Targeted Therapy
Liu, Fatao F; Li, Yongsheng Y; Ying, Dongjian D; Qiu, Shimei S; He, Yong Y; Li, Maolan M; Liu, Yun Y; Zhang, Yijian Y; Zhu, Qin Q; Hu, Yunping Y; Liu, Liguo L; Li, Guoqiang G; Pan, Weihua W; Jin, Wei W; Mu, Jiasheng J; Cao, Yang Y; Liu, Yingbin Y
Publication Date: 2021-02-10
Variant appearance in text: CYBB: Ala417Thr
PubMed Link:
33563892
Variant Present in the following documents:
41392_2020_412_MOESM7_ESM.xlsx, sheet 1
View BVdb publication page
Diversity spectrum analysis identifies mutation-specific effects of cancer driver genes.
Communications Biology
Dong, Xiaobao X; Huang, Dandan D; Yi, Xianfu X; Zhang, Shijie S; Wang, Zhao Z; Yan, Bin B; Chung Sham, Pak P; Chen, Kexin K; Jun Li, Mulin M
Publication Date: 2020-01-07
Variant appearance in text: CYBB: A417T
PubMed Link:
31925297
Variant Present in the following documents:
42003_2019_736_MOESM13_ESM.xlsx, sheet 1
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: CYBB: A417T
PubMed Link:
31819097
Variant Present in the following documents:
41598_2019_54976_MOESM2_ESM.xlsx, sheet 8
View BVdb publication page
Mutational landscape of gingivo-buccal oral squamous cell carcinoma reveals new recurrently-mutated genes and molecular subgroups.
Nature Communications
,
Publication Date: 2013
Variant appearance in text: CYBB: 1249G>A; A417T
PubMed Link:
24292195
Variant Present in the following documents:
ncomms3873-s2.xls, sheet 1
View BVdb publication page