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MEGF6 c.3758G>A ;(p.R1253H)
Variant ID: 1-3412567-C-T
NM_001409.3(
MEGF6
):c.3758G>A;(p.R1253H)
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:
Comparative analyses define differences between BHD-associated renal tumour and sporadic chromophobe renal cell carcinoma.
Ebiomedicine
Jikuya, Ryosuke R; Johnson, Todd A TA; Maejima, Kazuhiro K; An, Jisong J; Ju, Young-Seok YS; Lee, Hwajin H; Ha, Kyungsik K; Song, WooJeung W; Kim, Youngwook Y; Okawa, Yuki Y; Sasagawa, Shota S; Kanazashi, Yuki Y; Fujita, Masashi M; Imoto, Seiya S; Mitome, Taku T; Ohtake, Shinji S; Noguchi, Go G; Kawaura, Sachi S; Iribe, Yasuhiro Y; Aomori, Kota K; Tatenuma, Tomoyuki T; Komeya, Mitsuru M; Ito, Hiroki H; Ito, Yusuke Y; Muraoka, Kentaro K; Furuya, Mitsuko M; Kato, Ikuma I; Fujii, Satoshi S; Hamanoue, Haruka H; Tamura, Tomohiko T; Baba, Masaya M; Suda, Toshio T; Kodama, Tatsuhiko T; Makiyama, Kazuhide K; Yao, Masahiro M; Shuch, Brian M BM; Ricketts, Christopher J CJ; Schmidt, Laura S LS; Linehan, W Marston WM; Nakagawa, Hidewaki H; Hasumi, Hisashi H
Publication Date: 2023-05-12
Variant appearance in text: MEGF6: 3758G>A; Arg1253His
PubMed Link:
37182269
Variant Present in the following documents:
mmc4.xlsx, sheet 8
View BVdb publication page
Deciphering genes associated with diffuse large B-cell lymphoma with lymphomatous effusions: A mutational accumulation scoring approach.
Biomarker Research
Abdollahi, Sina S; Dehghanian, Seyedeh Zahra SZ; Hung, Liang-Yi LY; Yang, Shiang-Jie SJ; Chen, Dao-Peng DP; Medeiros, L Jeffrey LJ; Chiang, Jung-Hsien JH; Chang, Kung-Chao KC
Publication Date: 2021-10-09
Variant appearance in text: MEGF6: R1253H; rs78042623
PubMed Link:
34635181
Variant Present in the following documents:
40364_2021_330_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page