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DOT1L c.2020C>T ;(p.R674C)
Variant ID: 19-2216376-C-T
NM_032482.2(
DOT1L
):c.2020C>T;(p.R674C)
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:
Systematic Review of Somatic Mutations in Splenic Marginal Zone Lymphoma.
Scientific Reports
Jaramillo Oquendo, Carolina C; Parker, Helen H; Oscier, David D; Ennis, Sarah S; Gibson, Jane J; Strefford, Jonathan C JC
Publication Date: 2019-07-18
Variant appearance in text: DOT1L: R674C; rs573741033
PubMed Link:
31320741
Variant Present in the following documents:
41598_2019_46906_MOESM1_ESM.xlsx, sheet 3
View BVdb publication page
Increased burden of ultra-rare protein-altering variants among 4,877 individuals with schizophrenia.
Nature Neuroscience
Genovese, Giulio G; Fromer, Menachem M; Stahl, Eli A EA; Ruderfer, Douglas M DM; Chambert, Kimberly K; Landén, Mikael M; Moran, Jennifer L JL; Purcell, Shaun M SM; Sklar, Pamela P; Sullivan, Patrick F PF; Hultman, Christina M CM; McCarroll, Steven A SA
Publication Date: 2016-11
Variant appearance in text: DOT1L: 2020C>T; Arg674Cys
PubMed Link:
27694994
Variant Present in the following documents:
NIHMS815183-supplement-supp_table3.xlsx, sheet 1
View BVdb publication page