NF1 c.702_703del ;(p.Y235Pfs*6)

Variant ID: 17-29508773-CTG-C

NM_001042492.2(NF1):c.702_703del;(p.Y235Pfs*6)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Targeted Sequencing Detects Variants That May Contribute to the Risk of Neuropsychiatric Disorders.

Indian Journal Of Psychological Medicine
Mahadevan, Jayant J; Sud, Reeteka R; Nadella, Ravi Kumar RK; Vani, Pulaparambil P; Subramaniam, Anand G AG; Paul, Pradip P; Ganapathy, Aparna A; Mannan, Ashraf U AU; Chandru, Vijay V; Viswanath, Biju B; Purushottam, Meera M; Jain, Sanjeev S
Publication Date: 2022-09

Variant appearance in text: NF1: 701_702delTG
PubMed Link: 36157006
Variant Present in the following documents:
  • Main text
View BVdb publication page



A novel NF1 frame-shift mutation c.703_704delTA in a Chinese pedigree with neurofibromatosis type 1.

International Journal Of Ophthalmology
Chen, Jun J; Guo, Bo B; Ren, Min M; Lin, Hong H; Zhang, Xin X; Chen, Si-Yi SY; Yu, Xiao-Tian XT; Xu, Zhu-Ping ZP
Publication Date: 2018

Variant appearance in text: NF1: 702_703delGT
PubMed Link: 30225235
Variant Present in the following documents:
  • Main text
View BVdb publication page