PC c.2800C>T ;(p.Q934*)

Variant ID: 11-66617506-G-A

NM_001040716.1(PC):c.2800C>T;(p.Q934*)

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:

Altered localization and functionality of TAR DNA Binding Protein 43 (TDP-43) in niemann- pick disease type C.

Acta Neuropathologica Communications
Dardis, A A; Zampieri, S S; Canterini, S S; Newell, K L KL; Stuani, C C; Murrell, J R JR; Ghetti, B B; Fiorenza, M T MT; Bembi, B B; Buratti, E E
Publication Date: 2016-05-18

Variant appearance in text: PC: 2800C>T
PubMed Link: 27193329
Variant Present in the following documents:
  • Main text
  • 40478_2016_Article_325.pdf
View BVdb publication page