TSC2 c.4650_4653del ;(p.G1551Kfs*24)

Variant ID: 16-2135311-TTGGA-T

NM_000548.3(TSC2):c.4650_4653del;(p.G1551Kfs*24)

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:

Progress of Induced Pluripotent Stem Cell Technologies to Understand Genetic Epilepsy.

International Journal Of Molecular Sciences
Sterlini, Bruno B; Fruscione, Floriana F; Baldassari, Simona S; Benfenati, Fabio F; Zara, Federico F; Corradi, Anna A
Publication Date: 2020-01-12

Variant appearance in text: TSC2: 4650_4653del
PubMed Link: 31940887
Variant Present in the following documents:
  • Main text
  • ijms-21-00482.pdf
View BVdb publication page