NPC2 c.146T>C ;(p.L49P)

Variant ID: 14-74953076-A-G

NM_006432.3(NPC2):c.146T>C;(p.L49P)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Whole exome sequencing and DNA methylation analysis in a clinical amyotrophic lateral sclerosis cohort.

Molecular Genetics & Genomic Medicine
Garton, Fleur C FC; Benyamin, Beben B; Zhao, Qiongyi Q; Liu, Zhijun Z; Gratten, Jacob J; Henders, Anjali K AK; Zhang, Zong-Hong ZH; Edson, Janette J; Furlong, Sarah S; Morgan, Sarah S; Heggie, Susan S; Thorpe, Kathryn K; Pfluger, Casey C; Mather, Karen A KA; Sachdev, Perminder S PS; McRae, Allan F AF; Robinson, Matthew R MR; Shah, Sonia S; Visscher, Peter M PM; Mangelsdorf, Marie M; Henderson, Robert D RD; Wray, Naomi R NR; McCombe, Pamela A PA
Publication Date: 2017-07

Variant appearance in text: NPC2: 146T>C; Leu49Pro
PubMed Link: 28717666
Variant Present in the following documents:
  • MGG3-5-418-s001.xlsx, sheet 5
View BVdb publication page