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BBS7 c.1569G>T ;(p.W523C)
Variant ID: 4-122754493-C-A
NM_176824.2(
BBS7
):c.1569G>T;(p.W523C)
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:
DNA demethylation is associated with malignant progression of lower-grade gliomas.
Scientific Reports
Nomura, Masashi M; Saito, Kuniaki K; Aihara, Koki K; Nagae, Genta G; Yamamoto, Shogo S; Tatsuno, Kenji K; Ueda, Hiroki H; Fukuda, Shiro S; Umeda, Takayoshi T; Tanaka, Shota S; Takayanagi, Shunsaku S; Otani, Ryohei R; Nejo, Takahide T; Hana, Taijun T; Takahashi, Satoshi S; Kitagawa, Yosuke Y; Omata, Mayu M; Higuchi, Fumi F; Nakamura, Taishi T; Muragaki, Yoshihiro Y; Narita, Yoshitaka Y; Nagane, Motoo M; Nishikawa, Ryo R; Ueki, Keisuke K; Saito, Nobuhito N; Aburatani, Hiroyuki H; Mukasa, Akitake A
Publication Date: 2019-02-13
Variant appearance in text: BBS7: W523C
PubMed Link:
30760837
Variant Present in the following documents:
41598_2019_38510_MOESM2_ESM.xlsx, sheet 7
View BVdb publication page
Decoding Somatic Driver Gene Mutations and Affected Signaling Pathways in Human Medulloblastoma Subgroups.
Journal Of Cancer
Robbins, Charles J CJ; Bou-Dargham, Mayassa J MJ; Sanchez, Kevin K; Rosen, Matthew C MC; Sang, Qing-Xiang Amy QA
Publication Date: 2018
Variant appearance in text: BBS7: 1569G>T; W523C
PubMed Link:
30588243
Variant Present in the following documents:
jcav09p4596s2.xlsx, sheet 1
View BVdb publication page