NF1 c.6790dup ;(p.I2264Nfs*9)

Variant ID: 17-29665127-G-GA

NM_001042492.2(NF1):c.6790dup;(p.I2264Nfs*9)

This variant was identified in 1 publication

View GRCh38 version.



Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP

Publications:

Clinical characteristics and spectrum of NF1 mutations in 12 unrelated Chinese families with neurofibromatosis type 1.

Bmc Medical Genetics
Mao, Bin B; Chen, Siyu S; Chen, Xin X; Yu, Xiumei X; Zhai, Xiaojia X; Yang, Tao T; Li, Lulu L; Wang, Zheng Z; Zhao, Xiuli X; Zhang, Xue X
Publication Date: 2018-06-18

Variant appearance in text: NF1: 6790_6791insA; Y2264*
PubMed Link: 29914388
Variant Present in the following documents:
  • Main text
  • 12881_2018_Article_615.pdf
View BVdb publication page