NF1 c.3186del ;(p.K1062Nfs*15)

Variant ID: 17-29557928-TA-T

NM_001042492.2(NF1):c.3186del;(p.K1062Nfs*15)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Multiscale heterogeneity in gastric adenocarcinoma evolution is an obstacle to precision medicine.

Genome Medicine
Röcken, Christoph C; Amallraja, Anu A; Halske, Christine C; Opasic, Luka L; Traulsen, Arne A; Behrens, Hans-Michael HM; Krüger, Sandra S; Liu, Anne A; Haag, Jochen J; Egberts, Jan-Hendrik JH; Rosenstiel, Philip P; Meißner, Tobias T
Publication Date: 2021-11-08

Variant appearance in text: NF1: K1062Nfs*15
PubMed Link: 34749812
Variant Present in the following documents:
  • 13073_2021_975_MOESM2_ESM.xlsx, sheet 16
  • 13073_2021_975_MOESM2_ESM.xlsx, sheet 6
  • 13073_2021_975_MOESM2_ESM.xlsx, sheet 13
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Utilization of Whole-Exome Next-Generation Sequencing Variant Read Frequency for Detection of Lesion-Specific, Somatic Loss of Heterozygosity in a Neurofibromatosis Type 1 Cohort with Tibial Pseudarthrosis.

The Journal Of Molecular Diagnostics : Jmd
Margraf, Rebecca L RL; VanSant-Webb, Chad C; Sant, David D; Carey, John J; Hanson, Heather H; D'Astous, Jacques J; Viskochil, Dave D; Stevenson, David A DA; Mao, Rong R
Publication Date: 2017-05

Variant appearance in text: NF1: 3186delA; Lys1062Asnfs*15
PubMed Link: 28433079
Variant Present in the following documents:
  • Main text
View BVdb publication page