TSC2 c.1609_1653del ;(p.R537_A551del)

Variant ID: 16-2115523-ATGGCCCGCTCCCTCTCCCCACCCCCGGAGCTGGAAGAAAGGGATG-A

NM_000548.3(TSC2):c.1609_1653del;(p.R537_A551del)

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:

The Benefit of Multigene Panel Testing for the Diagnosis and Management of the Genetic Epilepsies.

Genes
Leduc-Pessah, Heather H; White-Brown, Alexandre A; Hartley, Taila T; Pohl, Daniela D; Dyment, David A DA
Publication Date: 2022-05-13

Variant appearance in text: TSC2: 1609_1653del
PubMed Link: 35627257
Variant Present in the following documents:
  • genes-13-00872.pdf
View BVdb publication page