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PTEN c.475_476delinsTA ;(p.R159*)
Variant ID: 10-89692991-AG-TA
NM_000314.4(
PTEN
):c.475_476delinsTA;(p.R159*)
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:
Exon splicing analysis of intronic variants in multigene cancer panel testing for hereditary breast/ovarian cancer.
Cancer Science
Ryu, Jin-Sun JS; Lee, Hye-Young HY; Cho, Eun Hae EH; Yoon, Kyong-Ah KA; Kim, Min-Kyeong MK; Joo, Jungnam J; Lee, Eun-Sook ES; Kang, Han-Sung HS; Lee, Seeyoun S; Lee, Dong Ock DO; Lim, Myong Cheol MC; Kong, Sun-Young SY
Publication Date: 2020-10
Variant appearance in text: PTEN: Arg159*
PubMed Link:
32761968
Variant Present in the following documents:
Main text
CAS-111-3912.pdf
View BVdb publication page
Dysregulation of microRNA biogenesis machinery in cancer.
Critical Reviews In Biochemistry And Molecular Biology
Hata, Akiko A; Kashima, Risa R
Publication Date: 2016
Variant appearance in text: PTEN: R159*
PubMed Link:
26628006
Variant Present in the following documents:
Main text
View BVdb publication page