IGF1R c.3464G>C ;(p.G1155A)

Variant ID: 15-99486158-G-C

NM_000875.3(IGF1R):c.3464G>C;(p.G1155A)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Targeted Searches of the Electronic Health Record and Genomics Identify an Etiology in Three Patients with Short Stature and High IGF-I Levels.

Hormone Research In Paediatrics
Cabrera-Salcedo, Catalina C; Hawkes, Colin P CP; Tyzinski, Leah L; Andrew, Melissa M; Labilloy, Guillaume G; Campos, Diego D; Feld, Amalia A; Deodati, Annalisa A; Hwa, Vivian V; Hirschhorn, Joel N JN; Grimberg, Adda A; Dauber, Andrew A; ,
Publication Date: 2019

Variant appearance in text: IGF1R: G1155A
PubMed Link: 31865343
Variant Present in the following documents:
  • Main text
View BVdb publication page



Large-scale analysis of variation in the insulin-like growth factor family in humans reveals rare disease links and common polymorphisms.

The Journal Of Biological Chemistry
Rotwein, Peter P
Publication Date: 2017-06-02

Variant appearance in text: IGF1R: G1155A
PubMed Link: 28389567
Variant Present in the following documents:
  • Main text
View BVdb publication page