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NF1 c.6291dup ;(p.A2098Sfs*22)
Variant ID: 17-29663795-C-CA
NM_001042492.2(
NF1
):c.6291dup;(p.A2098Sfs*22)
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:
Genetic alteration of Chinese patients with rectal mucosal melanoma.
Bmc Cancer
Li, Huan H; Yang, Lujing L; Lai, Yumei Y; Wang, Xintong X; Han, Xinyin X; Liu, Siyao S; Wang, Dongliang D; Li, Xiaojuan X; Hu, Nana N; Kong, Yan Y; Si, Lu L; Li, Zhongwu Z
Publication Date: 2021-05-27
Variant appearance in text: NF1: 6290_6291insA
PubMed Link:
34044811
Variant Present in the following documents:
12885_2021_8383_MOESM1_ESM.xlsx, sheet 1
View BVdb publication page
Neurofibromatosis type 1-associated tumours: their somatic mutational spectrum and pathogenesis.
Human Genomics
Laycock-van Spyk, Sebastian S; Thomas, Nick N; Cooper, David N DN; Upadhyaya, Meena M
Publication Date: 2011-10
Variant appearance in text: NF1: 6291insA
PubMed Link:
22155606
Variant Present in the following documents:
Main text
1479-7364-5-6-623.pdf
View BVdb publication page