IGF1R c.3743G>A ;(p.C1248Y)

Variant ID: 15-99500310-G-A

NM_000875.3(IGF1R):c.3743G>A;(p.C1248Y)

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:

IGF1R Gene Alterations in Children Born Small for Gestitional Age (SGA).

Open Access Macedonian Journal Of Medical Sciences
Janchevska, Aleksandra A; Krstevska-Konstantinova, Marina M; Pfäffle, Heike H; Schlicke, Marina M; Laban, Nevenka N; Tasic, Velibor V; Gucev, Zoran Z; Mironska, Kristina K; Dimovski, Aleksandar A; Kratzsch, Jürgen J; Klammt, Jürgen J; Pfäffle, Roland R
Publication Date: 2018-11-25

Variant appearance in text: IGF1R: C1248Y
PubMed Link: 30559857
Variant Present in the following documents:
  • Main text
  • OAMJMS-6-2040.pdf
View BVdb publication page