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TSC2 c.2251del ;(p.R751Efs*20)
Variant ID: 16-2122878-TC-T
NM_000548.3(
TSC2
):c.2251del;(p.R751Efs*20)
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:
Whole Exome Sequencing Identifies TSC1/TSC2 Biallelic Loss as the Primary and Sufficient Driver Event for Renal Angiomyolipoma Development.
Plos Genetics
Giannikou, Krinio K; Malinowska, Izabela A IA; Pugh, Trevor J TJ; Yan, Rachel R; Tseng, Yuen-Yi YY; Oh, Coyin C; Kim, Jaegil J; Tyburczy, Magdalena E ME; Chekaluk, Yvonne Y; Liu, Yang Y; Alesi, Nicola N; Finlay, Geraldine A GA; Wu, Chin-Lee CL; Signoretti, Sabina S; Meyerson, Matthew M; Getz, Gad G; Boehm, Jesse S JS; Henske, Elizabeth P EP; Kwiatkowski, David J DJ
Publication Date: 2016-08
Variant appearance in text: TSC2: 2250delC
PubMed Link:
27494029
Variant Present in the following documents:
Main text
pgen.1006242.pdf
View BVdb publication page