TSC2 c.3626T>C ;(p.L1209P)

Variant ID: 16-2131611-T-C

NM_000548.3(TSC2):c.3626T>C;(p.L1209P)

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:

Electro-clinical and neurodevelopmental outcome in six children with early diagnosis of tuberous sclerosis complex and role of the genetic background.

Italian Journal Of Pediatrics
Savini, M N MN; Mingarelli, A A; Peron, A A; La Briola, F F; Cervi, F F; Alfano, R M RM; Canevini, M P MP; Vignoli, A A
Publication Date: 2020-03-27

Variant appearance in text: TSC2: Leu1209Pro
PubMed Link: 32216820
Variant Present in the following documents:
  • Main text
  • 13052_2020_Article_801.pdf
View BVdb publication page