NF1 c.3757_3764del ;(p.L1253Tfs*8)

Variant ID: 17-29562675-TACTCTACC-T

NM_001042492.2(NF1):c.3757_3764del;(p.L1253Tfs*8)

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:

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: 3757_3764del; Leu1253ThrfsX8
PubMed Link: 22155606
Variant Present in the following documents:
  • Main text
  • 1479-7364-5-6-623.pdf
View BVdb publication page