TSC2 c.1070C>A ;(p.A357E)

Variant ID: 16-2110765-C-A

NM_000548.3(TSC2):c.1070C>A;(p.A357E)

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:

Clinical Utility of Exome Sequencing and Reinterpreting Genetic Test Results in Children and Adults With Epilepsy.

Frontiers In Genetics
Jiang, Yong-Li YL; Song, Changgeng C; Wang, Yuanyuan Y; Zhao, Jingjing J; Yang, Fang F; Gao, Qiong Q; Leng, Xiuxiu X; Man, Yulin Y; Jiang, Wen W
Publication Date: 2020

Variant appearance in text: TSC2: 1070C>A
PubMed Link: 33391346
Variant Present in the following documents:
  • Main text
View BVdb publication page