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NF1 c.6293C>G ;(p.A2098G)
Variant ID: 17-29663798-C-G
NM_001042492.2(
NF1
):c.6293C>G;(p.A2098G)
This variant was identified in 3 publications
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
Clonal hematopoiesis in primary immune thrombocytopenia.
Blood Cancer Journal
Wang, Yanming Y; Yu, Tianshu T; Dong, Qiaofeng Q; Liu, Shuang S; Yu, Yafei Y; Zhao, Hong Yu HY; Ma, Ji J; Dong, Lin L; Wang, Liang L; Ma, Daoxin D; Zhao, Yajing Y; Hou, Yu Y; Liu, Xinguang X; Peng, Jun J; Hou, Ming M
Publication Date: 2022-03-15
Variant appearance in text: NF1: A2098G
PubMed Link:
35293382
Variant Present in the following documents:
41408_2022_641_MOESM1_ESM.pdf
View BVdb publication page
Exhaustive non-synonymous variants functionality prediction enables high resolution characterization of the neurofibromin architecture.
Ebiomedicine
Isakov, Ofer O; Wallis, Deeann D; Evans, D Gareth DG; Ben-Shachar, Shay S
Publication Date: 2018-10
Variant appearance in text: rs764106639
PubMed Link:
30274822
Variant Present in the following documents:
mmc1.xls, sheet 1
View BVdb publication page
Mutational heterogeneity in non-serous ovarian cancers.
Scientific Reports
Teer, Jamie K JK; Yoder, Sean S; Gjyshi, Anxhela A; Nicosia, Santo V SV; Zhang, Chaomei C; Monteiro, Alvaro N A ANA
Publication Date: 2017-08-29
Variant appearance in text: NF1: A2098G
PubMed Link:
28852190
Variant Present in the following documents:
41598_2017_10432_MOESM2_ESM.xlsx, sheet 5
View BVdb publication page