TSC2 c.4713C>A ;(p.Y1571*)

Variant ID: 16-2136244-C-A

NM_000548.3(TSC2):c.4713C>A;(p.Y1571*)

This variant was identified in 1 publication

View GRCh38 version.



Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP

Publications:

Rapid and efficient CRISPR/Cas9 gene inactivation in human neurons during human pluripotent stem cell differentiation and direct reprogramming.

Scientific Reports
Rubio, Alicia A; Luoni, Mirko M; Giannelli, Serena G SG; Radice, Isabella I; Iannielli, Angelo A; Cancellieri, Cinzia C; Di Berardino, Claudia C; Regalia, Giulia G; Lazzari, Giovanna G; Menegon, Andrea A; Taverna, Stefano S; Broccoli, Vania V
Publication Date: 2016-11-18

Variant appearance in text: TSC2: Y1571X
PubMed Link: 27857203
Variant Present in the following documents:
  • Main text
  • srep37540.pdf
  • srep37540-s1.pdf
View BVdb publication page