TSC2 c.4470_4471delinsTT ;(p.E1490_K1491delinsD*)

Variant ID: 16-2134693-GA-TT

NM_000548.3(TSC2):c.4470_4471delinsTT;(p.E1490_K1491delinsD*)

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:

Two different genetic etiologies for tuberous sclerosis complex (TSC) in a single family.

Molecular Genetics & Genomic Medicine
Mowrey, Kate K; Koenig, Mary Kay MK; Szabo, Charles A CA; Samuels, Joshua J; Mulligan, Shannon S; Pearson, Deborah A DA; Northrup, Hope H
Publication Date: 2020-07

Variant appearance in text: TSC2: 4470_4471delinsTT; Glu1490_Lys1491delinsAsp*
PubMed Link: 32383331
Variant Present in the following documents:
  • Main text
View BVdb publication page