NF1 c.663G>T ;(p.W221C)

Variant ID: 17-29508736-G-T

NM_001042492.2(NF1):c.663G>T;(p.W221C)

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:

De novo KAT6B Mutation Identified with Whole-Exome Sequencing in a Girl with Say-Barber/Biesecker/Young-Simpson Syndrome.

Molecular Syndromology
Lundsgaard, Malene M; Le, Vang Q VQ; Ernst, Anja A; Laugaard-Jacobsen, Hans C HC; Rasmussen, Kirsten K; Pedersen, Inge S IS; Petersen, Michael B MB
Publication Date: 2017-01

Variant appearance in text: NF1: 663G>T
PubMed Link: 28232779
Variant Present in the following documents:
  • Main text
View BVdb publication page