TSC2 c.5085_5086insT ;(p.D1696*)

Variant ID: 16-2138065-G-GT

NM_000548.3(TSC2):c.5085_5086insT;(p.D1696*)

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:

Dichotomy of Genetic Abnormalities in PEComas With Therapeutic Implications.

The American Journal Of Surgical Pathology
Agaram, Narasimhan P NP; Sung, Yun-Shao YS; Zhang, Lei L; Chen, Chun-Liang CL; Chen, Hsiao-Wei HW; Singer, Samuel S; Dickson, Mark A MA; Berger, Michael F MF; Antonescu, Cristina R CR
Publication Date: 2015-06

Variant appearance in text: TSC2: D1696fs
PubMed Link: 25651471
Variant Present in the following documents:
  • Main text
View BVdb publication page