TSC2 c.2098G>C ;(p.E700Q)

Variant ID: 16-2122242-G-C

NM_000548.3(TSC2):c.2098G>C;(p.E700Q)

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:

Hepatic angiomyolipoma: mutation analysis and immunohistochemical pitfalls in diagnosis.

Histopathology
Yan, Zhen Z; Grenert, James P JP; Joseph, Nancy M NM; Ren, Chuanli C; Chen, Xin X; Shafizadeh, Nafis N; Kakar, Sanjay S
Publication Date: 2018-07

Variant appearance in text: TSC2: 2098G>C; E700Q
PubMed Link: 29512829
Variant Present in the following documents:
  • Main text
View BVdb publication page