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TG c.3197G>T ;(p.R1066L)
Variant ID: 8-133910471-G-T
NM_003235.4(
TG
):c.3197G>T;(p.R1066L)
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:
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: TG: 3197G>T
PubMed Link:
27694994
Variant Present in the following documents:
NIHMS815183-supplement-supp_table3.xlsx, sheet 1
View BVdb publication page
Genotyping microarray for the detection of more than 200 CFTR mutations in ethnically diverse populations.
The Journal Of Molecular Diagnostics : Jmd
Schrijver, Iris I; Oitmaa, Eneli E; Metspalu, Andres A; Gardner, Phyllis P
Publication Date: 2005-08
Variant appearance in text: TG: R1066L
PubMed Link:
16049310
Variant Present in the following documents:
Main text
View BVdb publication page