TSC2 c.2138T>C ;(p.L713P)

Variant ID: 16-2122282-T-C

NM_000548.3(TSC2):c.2138T>C;(p.L713P)

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:

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: 2138T>C; Leu713Pro
PubMed Link: 31927531
Variant Present in the following documents:
  • Main text
  • aging-12-102654.pdf
  • aging-12-102654-s001..xlsx, sheet 1
View BVdb publication page