TG c.3092del ;(p.C1031Lfs*22)

Variant ID: 8-133909984-TG-T

NM_003235.4(TG):c.3092del;(p.C1031Lfs*22)

This variant was identified in 2 publications

View GRCh38 version.




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: 3092del
PubMed Link: 36246618
Variant Present in the following documents:
  • Table1.xlsx, sheet 3
View BVdb publication page



Rare Coding Variants Associated With Electrocardiographic Intervals Identify Monogenic Arrhythmia Susceptibility Genes: A Multi-Ancestry Analysis.

Circulation. Genomic And Precision Medicine
Choi, Seung Hoan SH; Jurgens, Sean J SJ; Haggerty, Christopher M CM; Hall, Amelia W AW; Halford, Jennifer L JL; Morrill, Valerie N VN; Weng, Lu-Chen LC; Lagerman, Braxton B; Mirshahi, Tooraj T; Pettinger, Mary M; Guo, Xiuqing X; Lin, Henry J HJ; Alonso, Alvaro A; Soliman, Elsayed Z EZ; Kornej, Jelena J; Lin, Honghuang H; Moscati, Arden A; Nadkarni, Girish N GN; Brody, Jennifer A JA; Wiggins, Kerri L KL; Cade, Brian E BE; Lee, Jiwon J; Austin-Tse, Christina C; Blackwell, Tom T; Chaffin, Mark D MD; Lee, Christina J-Y CJ; Rehm, Heidi L HL; Roselli, Carolina C; , ; Redline, Susan S; Mitchell, Braxton D BD; Sotoodehnia, Nona N; Psaty, Bruce M BM; Heckbert, Susan R SR; Loos, Ruth J F RJF; Vasan, Ramachandran S RS; Benjamin, Emelia J EJ; Correa, Adolfo A; Boerwinkle, Eric E; Arking, Dan E DE; Rotter, Jerome I JI; Rich, Stephen S SS; Whitsel, Eric A EA; Perez, Marco M; Kooperberg, Charles C; Fornwalt, Brandon K BK; Lunetta, Kathryn L KL; Ellinor, Patrick T PT; Lubitz, Steven A SA; ,
Publication Date: 2021-08

Variant appearance in text: TG: 3092del
PubMed Link: 34319147
Variant Present in the following documents:
  • hcg-14-e003300-s001.pdf
View BVdb publication page