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DICER1 c.5477C>A ;(p.S1826*)
Variant ID: 14-95557590-G-T
NM_177438.2(
DICER1
):c.5477C>A;(p.S1826*)
This variant was identified in 3 publications
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
DICER1 Syndrome: DICER1 Mutations in Rare Cancers.
Cancers
Robertson, Jake C JC; Jorcyk, Cheryl L CL; Oxford, Julia Thom JT
Publication Date: 2018-05-15
Variant appearance in text: DICER1: 5477C>A
PubMed Link:
29762508
Variant Present in the following documents:
Main text
cancers-10-00143.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: Dicer: S1826*
PubMed Link:
26628006
Variant Present in the following documents:
Main text
View BVdb publication page
A novel DICER1 mutation identified in a female with ovarian Sertoli-Leydig cell tumor and multinodular goiter: a case report.
Journal Of Medical Case Reports
Rossing, Maria M; Gerdes, Anne-Marie AM; Juul, Anders A; Rechnitzer, Catherine C; Rudnicki, Martin M; Nielsen, Finn C FC; Vo Hansen, Thomas T
Publication Date: 2014-04-03
Variant appearance in text: DICER1: 5477C>A; Ser1826*
PubMed Link:
24708902
Variant Present in the following documents:
Main text
1752-1947-8-112.pdf
View BVdb publication page