TSC2 c.4709_4714del ;(p.R1570_Y1571del)

Variant ID: 16-2136235-CTACAGG-C

NM_000548.3(TSC2):c.4709_4714del;(p.R1570_Y1571del)

This variant was identified in 2 publications

View GRCh38 version.



Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP

Publications:

Comparison of the functional and structural characteristics of rare TSC2 variants with clinical and genetic findings.

Human Mutation
Dufner Almeida, Luiz G LG; Nanhoe, Santoesha S; Zonta, Andrea A; Hosseinzadeh, Mitra M; Kom-Gortat, Regina R; Elfferich, Peter P; Schaaf, Gerben G; Kenter, Annegien A; Kümmel, Daniel D; Migone, Nicola N; Povey, Sue S; Ekong, Rosemary R; Nellist, Mark M
Publication Date: 2020-04

Variant appearance in text: TSC2: 4709_4714del
PubMed Link: 31799751
Variant Present in the following documents:
  • Main text
  • HUMU-41-759.pdf
View BVdb publication page


Response to everolimus is seen in TSC-associated SEGAs and angiomyolipomas independent of mutation type and site in TSC1 and TSC2.

European Journal Of Human Genetics : Ejhg
Kwiatkowski, David J DJ; Palmer, Michael R MR; Jozwiak, Sergiusz S; Bissler, John J; Franz, David D; Segal, Scott S; Chen, David D; Sampson, Julian R JR
Publication Date: 2015-12

Variant appearance in text: TSC2: 4709_4714del
PubMed Link: 25782670
Variant Present in the following documents:
  • ejhg201547x2.xls, sheet 1
View BVdb publication page