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TSC2 c.1000del ;(p.V334Cfs*29)
Variant ID: 16-2110693-TG-T
NM_000548.3(
TSC2
):c.1000del;(p.V334Cfs*29)
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:
Malignancy of renal angiomyolipoma from tuberous sclerosis complex with TSC2 mutation.
Chinese Medical Journal
Huang, Yu-Jing YJ; Jiang, Zong-Pei ZP; Chen, Yu-Ping YP; Wu, Jin-Quan JQ; Huang, Jia-Li JL; Chen, Yan-Qiang YQ; Liang, Meng-Jun MJ
Publication Date: 2019-01-05
Variant appearance in text: TSC2: 1000delG
PubMed Link:
30628968
Variant Present in the following documents:
Main text
cm9-132-103.pdf
View BVdb publication page