NF1 c.3868A>T ;(p.K1290*)

Variant ID: 17-29562788-A-T

NM_001042492.2(NF1):c.3868A>T;(p.K1290*)

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 development of cutaneous neurofibromas.

The American Journal Of Pathology
Jouhilahti, Eeva-Mari EM; Peltonen, Sirkku S; Callens, Tom T; Jokinen, Elina E; Heape, Anthony M AM; Messiaen, Ludwine L; Peltonen, Juha J
Publication Date: 2011-02

Variant appearance in text: NF1: 3868A>T; Lys1290X
PubMed Link: 21281783
Variant Present in the following documents:
  • Main text
View BVdb publication page