CATSPERD c.1788G>C ;(p.E596D)

Variant ID: 19-5772823-G-C

NM_152784.3(CATSPERD):c.1788G>C;(p.E596D)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


Crowdsourced direct-to-consumer genomic analysis of a family quartet.

Bmc Genomics
Corpas, Manuel M; Valdivia-Granda, Willy W; Torres, Nazareth N; Greshake, Bastian B; Coletta, Alain A; Knaus, Alexej A; Harrison, Andrew P AP; Cariaso, Mike M; Moran, Federico F; Nielsen, Fiona F; Swan, Daniel D; Weiss SolĂ­s, David Y DY; Krawitz, Peter P; Schacherer, Frank F; Schols, Peter P; Yang, Huangming H; Borry, Pascal P; Glusman, Gustavo G; Robinson, Peter N PN
Publication Date: 2015-11-07

Variant appearance in text: CATSPERD: 1788G>C; E596D
PubMed Link: 26547235
Variant Present in the following documents:
  • 12864_2015_1973_MOESM3_ESM.xls, sheet 3
View BVdb publication page



Whole-Genome Sequencing Suggests Schizophrenia Risk Mechanisms in Humans with 22q11.2 Deletion Syndrome.

G3 (Bethesda, Md.)
Merico, Daniele D; Zarrei, Mehdi M; Costain, Gregory G; Ogura, Lucas L; Alipanahi, Babak B; Gazzellone, Matthew J MJ; Butcher, Nancy J NJ; Thiruvahindrapuram, Bhooma B; Nalpathamkalam, Thomas T; Chow, Eva W C EW; Andrade, Danielle M DM; Frey, Brendan J BJ; Marshall, Christian R CR; Scherer, Stephen W SW; Bassett, Anne S AS
Publication Date: 2015-09-16

Variant appearance in text: N/A
PubMed Link: 26384369
Variant Present in the following documents:
View BVdb publication page