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DICER1 c.83T>C ;(p.F28S)
Variant ID: 14-95599713-A-G
NM_177438.2(
DICER1
):c.83T>C;(p.F28S)
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:
Germline mutations in candidate predisposition genes in individuals with cutaneous melanoma and at least two independent additional primary cancers.
Plos One
Pritchard, Antonia L AL; Johansson, Peter A PA; Nathan, Vaishnavi V; Howlie, Madeleine M; Symmons, Judith J; Palmer, Jane M JM; Hayward, Nicholas K NK
Publication Date: 2018
Variant appearance in text: DICER1: 83T>C; Phe28Ser; rs61729796
PubMed Link:
29641532
Variant Present in the following documents:
pone.0194098.s003.xlsx, sheet 2
View BVdb publication page
Pathogenic Mutations in Cancer-Predisposing Genes: A Survey of 300 Patients with Whole-Genome Sequencing and Lifetime Electronic Health Records.
Plos One
He, Karen Y KY; Zhao, Yiqing Y; McPherson, Elizabeth W EW; Li, Quan Q; Xia, Fan F; Weng, Chunhua C; Wang, Kai K; He, Max M MM
Publication Date: 2016
Variant appearance in text: DICER1: F28S
PubMed Link:
27930734
Variant Present in the following documents:
pone.0167847.s002.xls, sheet 1
View BVdb publication page