TSC2 c.2652C>T ;(p.Y884=)

Variant ID: 16-2126081-C-T

NM_000548.3(TSC2):c.2652C>T;(p.Y884=)

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:

Molecular and clinical analyses of 84 patients with tuberous sclerosis complex.

Bmc Medical Genetics
Hung, Chia-Cheng CC; Su, Yi-Ning YN; Chien, Shu-Chin SC; Liou, Horng-Huei HH; Chen, Chih-Chuan CC; Chen, Pau-Chung PC; Hsieh, Chia-Jung CJ; Chen, Chih-Ping CP; Lee, Wang-Tso WT; Lin, Win-Li WL; Lee, Chien-Nan CN
Publication Date: 2006-09-18

Variant appearance in text: TSC2: 2652C>T; Y884Y
PubMed Link: 16981987
Variant Present in the following documents:
  • Main text
  • 1471-2350-7-72.pdf
View BVdb publication page