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DMD c.2612A>C ;(p.K871T)
Variant ID: X-32509404-T-G
NM_004006.2(
DMD
):c.2612A>C;(p.K871T)
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:
A renal cell carcinoma tumorgraft platform to advance precision medicine.
Cell Reports
Elias, Roy R; Tcheuyap, Vanina T VT; Kaushik, Akash K AK; Singla, Nirmish N; Gao, Ming M; Reig Torras, Oscar O; Christie, Alana A; Mulgaonkar, Aditi A; Woolford, Layton L; Stevens, Christina C; Kettimuthu, Kavitha Priya KP; Pavia-Jimenez, Andrea A; Boroughs, Lindsey K LK; Joyce, Allison A; Dakanali, Marianna M; Notgrass, Hollis H; Margulis, Vitaly V; Cadeddu, Jeffrey A JA; Pedrosa, Ivan I; Williams, Noelle S NS; Sun, Xiankai X; DeBerardinis, Ralph J RJ; Öz, Orhan K OK; Zhong, Hua H; Seshagiri, Somasekar S; Modrusan, Zora Z; Cantarel, Brandi L BL; Kapur, Payal P; Brugarolas, James J
Publication Date: 2021-11-23
Variant appearance in text: DMD: 2612A>C; K871T
PubMed Link:
34818533
Variant Present in the following documents:
NIHMS1761779-supplement-Table_S8.xlsx, sheet 1
View BVdb publication page
A renal cell carcinoma tumorgraft platform to advance precision medicine.
Cell Reports
Elias, Roy R; Tcheuyap, Vanina T VT; Kaushik, Akash K AK; Singla, Nirmish N; Gao, Ming M; Reig Torras, Oscar O; Christie, Alana A; Mulgaonkar, Aditi A; Woolford, Layton L; Stevens, Christina C; Kettimuthu, Kavitha Priya KP; Pavia-Jimenez, Andrea A; Boroughs, Lindsey K LK; Joyce, Allison A; Dakanali, Marianna M; Notgrass, Hollis H; Margulis, Vitaly V; Cadeddu, Jeffrey A JA; Pedrosa, Ivan I; Williams, Noelle S NS; Sun, Xiankai X; DeBerardinis, Ralph J RJ; Öz, Orhan K OK; Zhong, Hua H; Seshagiri, Somasekar S; Modrusan, Zora Z; Cantarel, Brandi L BL; Kapur, Payal P; Brugarolas, James J
Publication Date: 2021-11-23
Variant appearance in text: DMD: 2612A>C; K871T
PubMed Link:
34818533
Variant Present in the following documents:
NIHMS1761779-supplement-Table_S8.xlsx, sheet 1
View BVdb publication page
Corrigendum: Genetic diagnosis of Duchenne/Becker muscular dystrophy using next-generation sequencing: validation analysis of DMD mutations.
Journal Of Human Genetics
Okubo, Mariko M; Minami, Narihiro N; Goto, Kanako K; Goto, Yuichi Y; Noguchi, Satoru S; Mitsuhashi, Satomi S; Nishino, Ichizo I
Publication Date: 2017-10
Variant appearance in text: DMD: Lys871Thr
PubMed Link:
28943641
Variant Present in the following documents:
10038_2017_Article_BFjhg201754.pdf
View BVdb publication page
Genetic diagnosis of Duchenne/Becker muscular dystrophy using next-generation sequencing: validation analysis of DMD mutations.
Journal Of Human Genetics
Okubo, Mariko M; Minami, Narihiro N; Goto, Kanako K; Goto, Yuichi Y; Noguchi, Satoru S; Mitsuhashi, Satomi S; Nishino, Ichizo I
Publication Date: 2016-06
Variant appearance in text: DMD: Lys871Thr
PubMed Link:
26911353
Variant Present in the following documents:
Main text
jhg20167a.pdf
View BVdb publication page