TSC2 c.1361G>A ;(p.R454K)

Variant ID: 16-2112601-G-A

NM_000548.3(TSC2):c.1361G>A;(p.R454K)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Decoding of novel missense TSC2 gene variants using in-silico methods.

Bmc Medical Genetics
Sudarshan, Shruthi S; Kumar, Manoj M; Kaur, Punit P; Kumar, Atin A; G, Sethuraman S; Sapra, Savita S; Gulati, Sheffali S; Gupta, Neerja N; Kabra, Madhulika M; Roy Chowdhury, Madhumita M
Publication Date: 2019-10-26

Variant appearance in text: tuberin: Arg454Lys
PubMed Link: 31655562
Variant Present in the following documents:
  • Main text
  • 12881_2019_Article_891.pdf
View BVdb publication page