TSC2 c.159C>A ;(p.G53=)

Variant ID: 16-2100421-C-A

NM_000548.3(TSC2):c.159C>A;(p.G53=)

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:

Ultrasensitive profiling of UV-induced mutations identifies thousands of subclinical facial tumors in tuberous sclerosis complex.

The Journal Of Clinical Investigation
Klonowska, Katarzyna K; Grevelink, Joannes M JM; Giannikou, Krinio K; Ogorek, Barbara A BA; Herbert, Zachary T ZT; Thorner, Aaron R AR; Darling, Thomas N TN; Moss, Joel J; Kwiatkowski, David J DJ
Publication Date: 2022-05-16

Variant appearance in text: TSC2: 159C>A
PubMed Link: 35358092
Variant Present in the following documents:
  • jci-132-155858-s182.pdf
View BVdb publication page