DMD c.643C>T ;(p.P215S)

Variant ID: X-32827616-G-A

NM_004006.2(DMD):c.643C>T;(p.P215S)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


Recurrent PTPRT/JAK2 mutations in lung adenocarcinoma among African Americans.

Nature Communications
Mitchell, Khadijah A KA; Nichols, Noah N; Tang, Wei W; Walling, Jennifer J; Stevenson, Holly H; Pineda, Marbin M; Stefanescu, Roxana R; Edelman, Daniel C DC; Girvin, Andrew T AT; Zingone, Adriana A; Sinha, Sanju S; Bowman, Elise E; Rossi, Emily L EL; Arauz, Rony F RF; Jack Zhu, Yuelin Y; Lack, Justin J; Weingartner, Elizabeth E; Waterfall, Joshua J JJ; Pine, Sharon R SR; Simmons, John J; Meltzer, Paul P; Ryan, Bríd M BM
Publication Date: 2019-12-16

Variant appearance in text: DMD: 643C>T; P215S
PubMed Link: 31844068
Variant Present in the following documents:
  • 41467_2019_13732_MOESM12_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: DMD: P215S
PubMed Link: 31819097
Variant Present in the following documents:
  • 41598_2019_54976_MOESM2_ESM.xlsx, sheet 8
View BVdb publication page



Carrier testing for severe childhood recessive diseases by next-generation sequencing.

Science Translational Medicine
Bell, Callum J CJ; Dinwiddie, Darrell L DL; Miller, Neil A NA; Hateley, Shannon L SL; Ganusova, Elena E EE; Mudge, Joann J; Langley, Ray J RJ; Zhang, Lu L; Lee, Clarence C CC; Schilkey, Faye D FD; Sheth, Vrunda V; Woodward, Jimmy E JE; Peckham, Heather E HE; Schroth, Gary P GP; Kim, Ryan W RW; Kingsmore, Stephen F SF
Publication Date: 2011-01-12

Variant appearance in text: DMD: P215S
PubMed Link: 21228398
Variant Present in the following documents:
  • Main text
View BVdb publication page