| Geno
|
Mag
|
Summary
|
| (A;A)
|
0
|
common in complete genomics
|
https://www.23andme.com/you/community/thread/14602/
http://www.cell.com/AJHG/retrieve/pii/S0002929712003576 10.1016/j.ajhg.2012.07.002 Exome Sequencing Identifies FUS Mutations as a Cause of Essential Tremor ... Functional considerations suggest that the pathogenic effects of ET-specific FUS mutations are different from the effects observed when FUS is mutated in amyotrophic lateral sclerosis cases; we have shown that the ET FUS nonsense mutation is degraded by the nonsense-mediated-decay pathway, whereas amyotrophic lateral sclerosis FUS mutant transcripts are not...
This snp was flagged as Suspect: Variation suspected to be false positive due to artifacts of the presence of a paralogous sequence in the genome (Musumeci et al. 2010) (Sudmant et al. 2010) or evidence suggested sequencing error or computation artifacts.
