TSC2 c.3937G>T ;(p.E1313*)

Variant ID: 16-2133749-G-T

NM_000548.3(TSC2):c.3937G>T;(p.E1313*)

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:

Response to everolimus is seen in TSC-associated SEGAs and angiomyolipomas independent of mutation type and site in TSC1 and TSC2.

European Journal Of Human Genetics : Ejhg
Kwiatkowski, David J DJ; Palmer, Michael R MR; Jozwiak, Sergiusz S; Bissler, John J; Franz, David D; Segal, Scott S; Chen, David D; Sampson, Julian R JR
Publication Date: 2015-12

Variant appearance in text: TSC2: 3937G>T; Glu1313*
PubMed Link: 25782670
Variant Present in the following documents:
  • ejhg201547x1.xls, sheet 1
View BVdb publication page