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TG c.2820del ;(p.E941Rfs*25)
Variant ID: 8-133905991-GA-G
NM_003235.4(
TG
):c.2820del;(p.E941Rfs*25)
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:
Gene-specific machine learning model to predict the pathogenicity of BRCA2 variants.
Frontiers In Genetics
Khandakji, Mohannad N MN; Mifsud, Borbala B
Publication Date: 2022
Variant appearance in text: TG: 2820del
PubMed Link:
36246618
Variant Present in the following documents:
Table1.xlsx, sheet 3
View BVdb publication page
BRCA1/BRCA2 mutation spectrum analysis in South Asia: a systematic review.
The Journal Of International Medical Research
Kharel, Sanjeev S; Shrestha, Suraj S; Yadav, Siddhartha S; Shakya, Prafulla P; Baidya, Sujita S; Hirachan, Suzita S
Publication Date: 2022-01
Variant appearance in text: TG: 2820del
PubMed Link:
35000471
Variant Present in the following documents:
sj-pdf-3-imr-10.1177_03000605211070757.pdf
View BVdb publication page
BRCA1/BRCA2 mutation spectrum analysis in South Asia: a systematic review.
The Journal Of International Medical Research
Kharel, Sanjeev S; Shrestha, Suraj S; Yadav, Siddhartha S; Shakya, Prafulla P; Baidya, Sujita S; Hirachan, Suzita S
Publication Date: 2022-01
Variant appearance in text: TG: 2820del
PubMed Link:
35000471
Variant Present in the following documents:
sj-pdf-3-imr-10.1177_03000605211070757.pdf
View BVdb publication page
Haplotype-resolved de novo assembly of the Vero cell line genome.
Npj Vaccines
Sène, Marie-Angélique MA; Kiesslich, Sascha S; Djambazian, Haig H; Ragoussis, Jiannis J; Xia, Yu Y; Kamen, Amine A AA
Publication Date: 2021-08-20
Variant appearance in text: TG: 2819delA
PubMed Link:
34417462
Variant Present in the following documents:
41541_2021_358_MOESM3_ESM.xlsx, sheet 1
View BVdb publication page