NF1 c.3048_3049insTGTGAATT ;(p.Q1017Cfs*5)

Variant ID: 17-29557334-G-GTTGTGAAT

NM_001042492.2(NF1):c.3048_3049insTGTGAATT;(p.Q1017Cfs*5)

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:

The NF1 gene contains hotspots for L1 endonuclease-dependent de novo insertion.

Plos Genetics
Wimmer, Katharina K; Callens, Tom T; Wernstedt, Annekatrin A; Messiaen, Ludwine L
Publication Date: 2011-11

Variant appearance in text: NF1: 3048_3049insTGTGAATT
PubMed Link: 22125493
Variant Present in the following documents:
  • Main text
  • pgen.1002371.pdf
View BVdb publication page