TSC2 c.3038del ;(p.D1013Vfs*3)

Variant ID: 16-2129104-GA-G

NM_000548.3(TSC2):c.3038del;(p.D1013Vfs*3)

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:

Application of Trio-Whole Exome Sequencing in Genetic Diagnosis and Therapy in Chinese Children With Epilepsy.

Frontiers In Molecular Neuroscience
Jiang, Tiejia T; Gao, Jia J; Jiang, Lihua L; Xu, Lu L; Zhao, Congying C; Su, Xiaojun X; Shen, Yaping Y; Gu, Weiyue W; Kong, Xiaohong X; Yang, Ying Y; Gao, Feng F
Publication Date: 2021

Variant appearance in text: TSC2: 3038del
PubMed Link: 34489640
Variant Present in the following documents:
  • Main text
  • fnmol-14-699574.pdf
View BVdb publication page