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TSC2 c.444C>G ;(p.D148E)
Variant ID: 16-2104404-C-G
NM_000548.3(
TSC2
):c.444C>G;(p.D148E)
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:
Interstitial chromosomal deletion of the tuberous sclerosis complex 2 locus is a signature for radiation-associated renal tumors in Eker rats.
Cancer Science
Inoue, Tatsuya T; Kokubo, Toshiaki T; Daino, Kazuhiro K; Yanagihara, Hiromi H; Watanabe, Fumiko F; Tsuruoka, Chizuru C; Amasaki, Yoshiko Y; Morioka, Takamitsu T; Homma-Takeda, Shino S; Kobayashi, Toshiyuki T; Hino, Okio O; Shimada, Yoshiya Y; Kakinuma, Shizuko S
Publication Date: 2020-03
Variant appearance in text: TSC2: Asp148Glu
PubMed Link:
31925975
Variant Present in the following documents:
Main text
CAS-111-840.pdf
View BVdb publication page