TSC2 c.2858C>A ;(p.P953H)

Variant ID: 16-2127619-C-A

NM_000548.3(TSC2):c.2858C>A;(p.P953H)

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: 2858C>A; Pro953His
PubMed Link: 33391346
Variant Present in the following documents:
  • Main text
  • fgene-11-591434.pdf
View BVdb publication page