NF1 c.1261_1319del ;(p.S421Kfs*5)

Variant ID: 17-29533256-AGTCCGCATTGGATTGGTGGCCTAAGATTGATGCTGTGTATTGTCACTCGGTTGAACTTC-A

NM_001042492.2(NF1):c.1261_1319del;(p.S421Kfs*5)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Targeted exon skipping of NF1 exon 17 as a therapeutic for neurofibromatosis type I.

Molecular Therapy. Nucleic Acids
Leier, André A; Moore, Marc M; Liu, Hui H; Daniel, Michael M; Hyde, Alexis M AM; Messiaen, Ludwine L; Korf, Bruce R BR; Selvakumaran, Jamuna J; Ciszewski, Lukasz L; Lambert, Laura L; Foote, Jeremy J; Wallace, Margaret R MR; Kesterson, Robert A RA; Dickson, George G; Popplewell, Linda L; Wallis, Deeann D
Publication Date: 2022-06-14

Variant appearance in text: NF1: Ser421_Pro464del
PubMed Link: 35433111
Variant Present in the following documents:
  • mmc1.pdf
View BVdb publication page