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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.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
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