NF1 c.2280G>A ;(p.M760I)

Variant ID: 17-29554264-G-A

NM_001042492.2(NF1):c.2280G>A;(p.M760I)

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:

Selfish mutations dysregulating RAS-MAPK signaling are pervasive in aged human testes.

Genome Research
Maher, Geoffrey J GJ; Ralph, Hannah K HK; Ding, Zhihao Z; Koelling, Nils N; Mlcochova, Hana H; Giannoulatou, Eleni E; Dhami, Pawan P; Paul, Dirk S DS; Stricker, Stefan H SH; Beck, Stephan S; McVean, Gilean G; Wilkie, Andrew O M AOM; Goriely, Anne A
Publication Date: 2018-12

Variant appearance in text: NF1: 2280G>A; Met760Ile
PubMed Link: 30355600
Variant Present in the following documents:
  • Main text
  • supp_gr.239186.118_Supplemental_File.pdf
  • supp_gr.239186.118_Supplemental_Table_S6.xlsx, sheet 3
  • 1779.pdf
  • supp_gr.239186.118_Supplemental_Table_S3.xlsx, sheet 2
View BVdb publication page