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TSC2 c.694C>T ;(p.P232S)
Variant ID: 16-2106690-C-T
NM_000548.3(
TSC2
):c.694C>T;(p.P232S)
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:
Multilocus Inherited Neoplasia Allele Syndrome (MINAS): an update.
European Journal Of Human Genetics : Ejhg
McGuigan, Anthony A; Whitworth, James J; Andreou, Avgi A; Hearn, Timothy T; , ; Tischkowitz, Marc M; Maher, Eamonn R ER
Publication Date: 2022-03
Variant appearance in text: TSC2: 694C>T
PubMed Link:
34983940
Variant Present in the following documents:
41431_2021_1013_MOESM1_ESM.pdf
View BVdb publication page
Clinically relevant molecular subtypes and genomic alteration-independent differentiation in gynecologic carcinosarcoma.
Nature Communications
Gotoh, Osamu O; Sugiyama, Yuko Y; Takazawa, Yutaka Y; Kato, Kazuyoshi K; Tanaka, Norio N; Omatsu, Kohei K; Takeshima, Nobuhiro N; Nomura, Hidetaka H; Hasegawa, Kosei K; Fujiwara, Keiichi K; Taki, Mana M; Matsumura, Noriomi N; Noda, Tetsuo T; Mori, Seiichi S
Publication Date: 2019-10-31
Variant appearance in text: TSC2: P232S
PubMed Link:
31672974
Variant Present in the following documents:
41467_2019_12985_MOESM8_ESM.xlsx, sheet 1
View BVdb publication page