TSC2 c.4429A>G ;(p.R1477G)

Variant ID: 16-2134652-A-G

NM_000548.3(TSC2):c.4429A>G;(p.R1477G)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Germline mutation of TSC1 or TSC2 gene in Chinese patients with bilateral renal angiomyolipomas and mutation spectrum of Chinese TSC patients.

Aging
Jiangyi, Wang W; Gang, Guo G; Guohai, Shi S; Dingwei, Ye Y
Publication Date: 2020-01-12

Variant appearance in text: TSC2: Arg1477Gly
PubMed Link: 31927531
Variant Present in the following documents:
  • Main text
  • aging-12-102654.pdf
View BVdb publication page