PC c.451G>T ;(p.D151Y)

Variant ID: 11-66638822-C-A

NM_001040716.1(PC):c.451G>T;(p.D151Y)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Somatic LINE-1 retrotransposition in cortical neurons and non-brain tissues of Rett patients and healthy individuals.

Plos Genetics
Zhao, Boxun B; Wu, Qixi Q; Ye, Adam Yongxin AY; Guo, Jing J; Zheng, Xianing X; Yang, Xiaoxu X; Yan, Linlin L; Liu, Qing-Rong QR; Hyde, Thomas M TM; Wei, Liping L; Huang, August Yue AY
Publication Date: 2019-04

Variant appearance in text: PC: 451G>T; D151Y
PubMed Link: 30973874
Variant Present in the following documents:
  • pgen.1008043.pdf
View BVdb publication page



Transcriptome level analysis in Rett syndrome using human samples from different tissues.

Orphanet Journal Of Rare Diseases
Shovlin, Stephen S; Tropea, Daniela D
Publication Date: 2018-07-11

Variant appearance in text: PC: D151Y
PubMed Link: 29996871
Variant Present in the following documents:
  • Main text
  • 13023_2018_Article_857.pdf
View BVdb publication page