NF1 c.691_693delinsATG ;(p.F231M)

Variant ID: 17-29508764-TTT-ATG

NM_001042492.2(NF1):c.691_693delinsATG;(p.F231M)

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:

Warburg Micro syndrome is caused by RAB18 deficiency or dysregulation.

Open Biology
Handley, Mark T MT; Carpanini, Sarah M SM; Mali, Girish R GR; Sidjanin, Duska J DJ; Aligianis, Irene A IA; Jackson, Ian J IJ; FitzPatrick, David R DR
Publication Date: 2015-06

Variant appearance in text: NF1: Phe231Met
PubMed Link: 26063829
Variant Present in the following documents:
  • Main text
  • rsob-5-150047.pdf
View BVdb publication page