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PTEN c.1118A>T ;(p.E373V)
Variant ID: 10-89725135-A-T
NM_000314.4(
PTEN
):c.1118A>T;(p.E373V)
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:
Detection of Germline Variants in 450 Breast/Ovarian Cancer Families with a Multi-Gene Panel Including Coding and Regulatory Regions.
International Journal Of Molecular Sciences
Guglielmi, Chiara C; Scarpitta, Rosa R; Gambino, Gaetana G; Conti, Eleonora E; Bellè, Francesca F; Tancredi, Mariella M; Cervelli, Tiziana T; Falaschi, Elisabetta E; Cosini, Cinzia C; Aretini, Paolo P; Congregati, Caterina C; Marino, Marco M; Patruno, Margherita M; Pilato, Brunella B; Spina, Francesca F; Balestrino, Luisa L; Tenedini, Elena E; Carnevali, Ileana I; Cortesi, Laura L; Tagliafico, Enrico E; Tibiletti, Maria Grazia MG; Tommasi, Stefania S; Ghilli, Matteo M; Vivanet, Caterina C; Galli, Alvaro A; Caligo, Maria Adelaide MA
Publication Date: 2021-07-19
Variant appearance in text: PTEN: 1118A>T
PubMed Link:
34299313
Variant Present in the following documents:
ijms-22-07693.pdf
View BVdb publication page