WARS2 c.791A>G ;(p.Y264C)

Variant ID: 1-119575826-T-C

NM_015836.3(WARS2):c.791A>G;(p.Y264C)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Genomic diagnosis for children with intellectual disability and/or developmental delay.

Genome Medicine
Bowling, Kevin M KM; Thompson, Michelle L ML; Amaral, Michelle D MD; Finnila, Candice R CR; Hiatt, Susan M SM; Engel, Krysta L KL; Cochran, J Nicholas JN; Brothers, Kyle B KB; East, Kelly M KM; Gray, David E DE; Kelley, Whitley V WV; Lamb, Neil E NE; Lose, Edward J EJ; Rich, Carla A CA; Simmons, Shirley S; Whittle, Jana S JS; Weaver, Benjamin T BT; Nesmith, Amy S AS; Myers, Richard M RM; Barsh, Gregory S GS; Bebin, E Martina EM; Cooper, Gregory M GM
Publication Date: 2017-05-30

Variant appearance in text: WARS2: 791A>G; Tyr264Cys
PubMed Link: 28554332
Variant Present in the following documents:
  • 13073_2017_433_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page