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TSC2 c.1803C>G ;(p.S601R)
Variant ID: 16-2120543-C-G
NM_000548.3(
TSC2
):c.1803C>G;(p.S601R)
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:
Sun exposure causes somatic second-hit mutations and angiofibroma development in tuberous sclerosis complex.
Human Molecular Genetics
Tyburczy, Magdalena E ME; Wang, Ji-An JA; Li, Shaowei S; Thangapazham, Rajesh R; Chekaluk, Yvonne Y; Moss, Joel J; Kwiatkowski, David J DJ; Darling, Thomas N TN
Publication Date: 2014-04-15
Variant appearance in text: TSC2: 1803C>G
PubMed Link:
24271014
Variant Present in the following documents:
Main text
View BVdb publication page