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TSC1 c.1825G>T ;(p.E609*)
Variant ID: 9-135781140-C-A
NM_000368.4(
TSC1
):c.1825G>T;(p.E609*)
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:
Correlation of mutational landscape and survival outcome of peripheral T-cell lymphomas.
Experimental Hematology & Oncology
Ye, Yingying Y; Ding, Ning N; Mi, Lan L; Shi, Yunfei Y; Liu, Weiping W; Song, Yuqin Y; Shu, Shaokun S; Zhu, Jun J
Publication Date: 2021-02-05
Variant appearance in text: TSC1: 1825G>T; E609*
PubMed Link:
33546774
Variant Present in the following documents:
40164_2021_200_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page
A novel TSC1 variant associated with tuberous sclerosis and sacrococcygeal teratoma.
Human Genome Variation
Ahmad, Saba S; Manon, Luis L; Bhat, Gifty G; Machado, Jerry J; Zalan, Alice A; Mata-Machado, Nikolas N; Garzon, Steven S; Yoshii, Akira A
Publication Date: 2020-11-19
Variant appearance in text: TSC1: Glu609*
PubMed Link:
33298910
Variant Present in the following documents:
Main text
41439_2020_Article_124.pdf
View BVdb publication page