IGF1R c.2594A>G ;(p.Y865C)

Variant ID: 15-99467213-A-G

NM_000875.3(IGF1R):c.2594A>G;(p.Y865C)

This variant was identified in 3 publications

View GRCh38 version.




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: Y865C
PubMed Link: 30559857
Variant Present in the following documents:
  • Main text
  • OAMJMS-6-2040.pdf
View BVdb publication page



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

Open Access Macedonian Journal Of Medical Sciences
Janchevska, Aleksandra A; Dimovski, Aleksandar A; Mironska, Kristina K; Tasic, Velibor V; Gucev, Zoran Z
Publication Date: 2018-05-20

Variant appearance in text: IGF1R: Tyr865Cys
PubMed Link: 29896311
Variant Present in the following documents:
  • Main text
  • OAMJMS-6-790.pdf
View BVdb publication page



iFish: predicting the pathogenicity of human nonsynonymous variants using gene-specific/family-specific attributes and classifiers.

Scientific Reports
Wang, Meng M; Wei, Liping L
Publication Date: 2016-08-16

Variant appearance in text: IGF1R: Y865C
PubMed Link: 27527004
Variant Present in the following documents:
  • srep31321-s3.xls, sheet 1
View BVdb publication page