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TSC2 c.3688G>A ;(p.E1230K)
Variant ID: 16-2131673-G-A
NM_000548.3(
TSC2
):c.3688G>A;(p.E1230K)
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:
Decoding of novel missense TSC2 gene variants using in-silico methods.
Bmc Medical Genetics
Sudarshan, Shruthi S; Kumar, Manoj M; Kaur, Punit P; Kumar, Atin A; G, Sethuraman S; Sapra, Savita S; Gulati, Sheffali S; Gupta, Neerja N; Kabra, Madhulika M; Roy Chowdhury, Madhumita M
Publication Date: 2019-10-26
Variant appearance in text: TSC2: Glu1230Lys
PubMed Link:
31655562
Variant Present in the following documents:
Main text
12881_2019_Article_891.pdf
View BVdb publication page