KIT c.330T>A ;(p.F110L)

Variant ID: 4-55561940-T-A

NM_000222.2(KIT):c.330T>A;(p.F110L)

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:

ACTG2-Associated Visceral Myopathy With Chronic Intestinal Pseudoobstruction, Intestinal Malrotation, Hypertrophic Pyloric Stenosis, Choledochal Cyst, and a Novel Missense Mutation.

International Journal Of Surgical Pathology
Collins, Rebecca R J RRJ; Barth, Bradley B; Megison, Stephen S; Pfeifer, Cory M CM; Rice, Luke M LM; Harris, Samar S; Timmons, Charles F CF; Rakheja, Dinesh D
Publication Date: 2019-02

Variant appearance in text: CD117: F110L
PubMed Link: 30019982
Variant Present in the following documents:
  • Main text
View BVdb publication page