NF1 c.2072T>G ;(p.L691R)

Variant ID: 17-29553523-T-G

NM_001042492.2(NF1):c.2072T>G;(p.L691R)

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:

In-silico Analysis of NF1 Missense Variants in ClinVar: Translating Variant Predictions into Variant Interpretation and Classification.

International Journal Of Molecular Sciences
Accetturo, Matteo M; Bartolomeo, Nicola N; Stella, Alessandro A
Publication Date: 2020-01-22

Variant appearance in text: NF1: Leu691Arg
PubMed Link: 31979111
Variant Present in the following documents:
  • Main text
  • ijms-21-00721.pdf
View BVdb publication page