TSC2 c.5238C>T ;(p.H1746=)

Variant ID: 16-2138305-C-T

NM_000548.3(TSC2):c.5238C>T;(p.H1746=)

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: His1746His
PubMed Link: 31927531
Variant Present in the following documents:
  • Main text
  • aging-12-102654.pdf
View BVdb publication page