CPAMD8 c.2810G>A ;(p.R937Q)

Variant ID: 19-17049240-C-T

NM_015692.2(CPAMD8):c.2810G>A;(p.R937Q)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Next-generation DNA sequencing identifies novel gene variants and pathways involved in specific language impairment.

Scientific Reports
Chen, Xiaowei Sylvia XS; Reader, Rose H RH; Hoischen, Alexander A; Veltman, Joris A JA; Simpson, Nuala H NH; Francks, Clyde C; Newbury, Dianne F DF; Fisher, Simon E SE
Publication Date: 2017-04-25

Variant appearance in text: CPAMD8: R984Q; rs192557594
PubMed Link: 28440294
Variant Present in the following documents:
  • srep46105-s2.xls, sheet 8
View BVdb publication page



A whole-genome sequence and transcriptome perspective on HER2-positive breast cancers.

Nature Communications
Ferrari, Anthony A; Vincent-Salomon, Anne A; Pivot, Xavier X; Sertier, Anne-Sophie AS; Thomas, Emilie E; Tonon, Laurie L; Boyault, Sandrine S; Mulugeta, Eskeatnaf E; Treilleux, Isabelle I; MacGrogan, Gaëtan G; Arnould, Laurent L; Kielbassa, Janice J; Le Texier, Vincent V; Blanché, Hélène H; Deleuze, Jean-François JF; Jacquemier, Jocelyne J; Mathieu, Marie-Christine MC; Penault-Llorca, Frédérique F; Bibeau, Frédéric F; Mariani, Odette O; Mannina, Cécile C; Pierga, Jean-Yves JY; Trédan, Olivier O; Bachelot, Thomas T; Bonnefoi, Hervé H; Romieu, Gilles G; Fumoleau, Pierre P; Delaloge, Suzette S; Rios, Maria M; Ferrero, Jean-Marc JM; Tarpin, Carole C; Bouteille, Catherine C; Calvo, Fabien F; Gut, Ivo Glynne IG; Gut, Marta M; Martin, Sancha S; Nik-Zainal, Serena S; Stratton, Michael R MR; Pauporté, Iris I; Saintigny, Pierre P; Birnbaum, Daniel D; Viari, Alain A; Thomas, Gilles G
Publication Date: 2016-07-13

Variant appearance in text: CPAMD8: 2951G>A; Arg984Gln
PubMed Link: 27406316
Variant Present in the following documents:
  • ncomms12222-s3.xlsx, sheet 1
View BVdb publication page