CAPN5 c.-35-3467C>A

Variant ID: 11-76792431-C-A

NM_004055.4(CAPN5):c.-35-3467C>A

This variant was identified in 3 publications

View GRCh38 version.




Publications:


Whole-exome-sequencing-based discovery of human FADD deficiency.

American Journal Of Human Genetics
Bolze, Alexandre A; Byun, Minji M; McDonald, David D; Morgan, Neil V NV; Abhyankar, Avinash A; Premkumar, Lakshmanane L; Puel, Anne A; Bacon, Chris M CM; Rieux-Laucat, Frédéric F; Pang, Ki K; Britland, Alison A; Abel, Laurent L; Cant, Andrew A; Maher, Eamonn R ER; Riedl, Stefan J SJ; Hambleton, Sophie S; Casanova, Jean-Laurent JL
Publication Date: 2010-12-10

Variant appearance in text: rs7926553
PubMed Link: 21109225
Variant Present in the following documents:
  • Main text
View BVdb publication page



Identification of a novel risk locus for progressive supranuclear palsy by a pooled genomewide scan of 500,288 single-nucleotide polymorphisms.

American Journal Of Human Genetics
Melquist, Stacey S; Craig, David W DW; Huentelman, Matthew J MJ; Crook, Richard R; Pearson, John V JV; Baker, Matt M; Zismann, Victoria L VL; Gass, Jennifer J; Adamson, Jennifer J; Szelinger, Szabolcs S; Corneveaux, Jason J; Cannon, Ashley A; Coon, Keith D KD; Lincoln, Sarah S; Adler, Charles C; Tuite, Paul P; Calne, Donald B DB; Bigio, Eileen H EH; Uitti, Ryan J RJ; Wszolek, Zbigniew K ZK; Golbe, Lawrence I LI; Caselli, Richard J RJ; Graff-Radford, Neill N; Litvan, Irene I; Farrer, Matthew J MJ; Dickson, Dennis W DW; Hutton, Mike M; Stephan, Dietrich A DA
Publication Date: 2007-04

Variant appearance in text: rs7926553
PubMed Link: 17357082
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genomewide linkage scan of 409 European-ancestry and African American families with schizophrenia: suggestive evidence of linkage at 8p23.3-p21.2 and 11p13.1-q14.1 in the combined sample.

American Journal Of Human Genetics
Suarez, Brian K BK; Duan, Jubao J; Sanders, Alan R AR; Hinrichs, Anthony L AL; Jin, Carol H CH; Hou, Cuiping C; Buccola, Nancy G NG; Hale, Nancy N; Weilbaecher, Ann N AN; Nertney, Deborah A DA; Olincy, Ann A; Green, Susan S; Schaffer, Arthur W AW; Smith, Christopher J CJ; Hannah, Dominique E DE; Rice, John P JP; Cox, Nancy J NJ; Martinez, Maria M; Mowry, Bryan J BJ; Amin, Farooq F; Silverman, Jeremy M JM; Black, Donald W DW; Byerley, William F WF; Crowe, Raymond R RR; Freedman, Robert R; Cloninger, C Robert CR; Levinson, Douglas F DF; Gejman, Pablo V PV
Publication Date: 2006-02

Variant appearance in text: rs7926553
PubMed Link: 16400611
Variant Present in the following documents:
  • Main text
View BVdb publication page