NF1 c.5630T>A ;(p.L1877Q)

Variant ID: 17-29657334-T-A

NM_001042492.2(NF1):c.5630T>A;(p.L1877Q)

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:

Genetic Analyses of the NF1 Gene in Turkish Neurofibromatosis Type I Patients and Definition of three Novel Variants.

Balkan Journal Of Medical Genetics : Bjmg
Ulusal, S D SD; Gürkan, H H; Atlı, E E; Özal, S A SA; Çiftdemir, M M; Tozkır, H H; Karal, Y Y; Güçlü, H H; Eker, D D; Görker, I I
Publication Date: 2017-06-30

Variant appearance in text: NF1: 5630T>A; Leu1877*
PubMed Link: 28924536
Variant Present in the following documents:
  • Main text
  • bjmg-20-013.pdf
View BVdb publication page