NF1 c.987A>G ;(p.K329=)

Variant ID: 17-29527538-A-G

NM_001042492.2(NF1):c.987A>G;(p.K329=)

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:

Prevalence of Choroidal Abnormalities and Lisch Nodules in Children Meeting Clinical and Molecular Diagnosis of Neurofibromatosis Type 1.

Translational Vision Science & Technology
Flores Pimentel, Mariana M; Heath, Anna A; Wan, Michael J MJ; Hussein, Rowaida R; Leahy, Kate E KE; MacDonald, Heather H; Tavares, Erika E; VandenHoven, Cynthia C; MacNeill, Katelyn K; Kannu, Peter P; Parkin, Patricia C PC; Heon, Elise E; Reginald, Arun A; Vincent, Ajoy A
Publication Date: 2022-02-01

Variant appearance in text: NF1: 987A>G; Lys329=
PubMed Link: 35119474
Variant Present in the following documents:
  • Main text
  • tvst-11-2-10.pdf
View BVdb publication page


Prevalence of Choroidal Abnormalities and Lisch Nodules in Children Meeting Clinical and Molecular Diagnosis of Neurofibromatosis Type 1.

Translational Vision Science & Technology
Flores Pimentel, Mariana M; Heath, Anna A; Wan, Michael J MJ; Hussein, Rowaida R; Leahy, Kate E KE; MacDonald, Heather H; Tavares, Erika E; VandenHoven, Cynthia C; MacNeill, Katelyn K; Kannu, Peter P; Parkin, Patricia C PC; Heon, Elise E; Reginald, Arun A; Vincent, Ajoy A
Publication Date: 2022-02-01

Variant appearance in text: NF1: 987A>G; Lys329=
PubMed Link: 35119474
Variant Present in the following documents:
  • Main text
  • tvst-11-2-10.pdf
View BVdb publication page