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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