IGF1R c.4065C>T ;(p.N1355=)

Variant ID: 15-99500632-C-T

NM_000875.3(IGF1R):c.4065C>T;(p.N1355=)

This variant was identified in 4 publications

View GRCh38 version.




Publications:


Aberrant phase separation and nucleolar dysfunction in rare genetic diseases.

Nature
Mensah, Martin A MA; Niskanen, Henri H; Magalhaes, Alexandre P AP; Basu, Shaon S; Kircher, Martin M; Sczakiel, Henrike L HL; Reiter, Alisa M V AMV; Elsner, Jonas J; Meinecke, Peter P; Biskup, Saskia S; Chung, Brian H Y BHY; Dombrowsky, Gregor G; Eckmann-Scholz, Christel C; Hitz, Marc Phillip MP; Hoischen, Alexander A; Holterhus, Paul-Martin PM; Hülsemann, Wiebke W; Kahrizi, Kimia K; Kalscheuer, Vera M VM; Kan, Anita A; Krumbiegel, Mandy M; Kurth, Ingo I; Leubner, Jonas J; Longardt, Ann Carolin AC; Moritz, Jörg D JD; Najmabadi, Hossein H; Skipalova, Karolina K; Snijders Blok, Lot L; Tzschach, Andreas A; Wiedersberg, Eberhard E; Zenker, Martin M; Garcia-Cabau, Carla C; Buschow, René R; Salvatella, Xavier X; Kraushar, Matthew L ML; Mundlos, Stefan S; Caliebe, Almuth A; Spielmann, Malte M; Horn, Denise D; Hnisz, Denes D
Publication Date: 2023-02-08

Variant appearance in text: IGF1R: 4065C>T; Asn1355=; rs45453791
PubMed Link: 36755093
Variant Present in the following documents:
  • 41586_2022_5682_MOESM7_ESM.xlsx, sheet 1
View BVdb publication page



Case Report: The novel hemizygous mutation in the SSR4 gene caused congenital disorder of glycosylation type iy: A case study and literature review.

Frontiers In Genetics
Wang, Jun J; Gou, Xingqing X; Wang, Xiyi X; Zhang, Jing J; Zhao, Nan N; Wang, Xiaohong X
Publication Date: 2022

Variant appearance in text: IGF1R: 4065C>T; Asn1355=; rs45453791
PubMed Link: 36386804
Variant Present in the following documents:
  • Table1.xls, sheet 1
  • Table1.xls, sheet 2
View BVdb publication page



Myelodysplastic syndrome progression to acute myeloid leukemia at the stem cell level.

Nature Medicine
Chen, Jiahao J; Kao, Yun-Ruei YR; Sun, Daqian D; Todorova, Tihomira I TI; Reynolds, David D; Narayanagari, Swathi-Rao SR; Montagna, Cristina C; Will, Britta B; Verma, Amit A; Steidl, Ulrich U
Publication Date: 2019-01

Variant appearance in text: IGF1R: 4065C>T; Asn1355Asn
PubMed Link: 30510255
Variant Present in the following documents:
  • NIHMS1510456-supplement-Sup_Table_3.xlsx, sheet 1
View BVdb publication page



A comprehensive in silico analysis of the functional and structural impact of SNPs in the IGF1R gene.

Journal Of Biomedicine & Biotechnology
de Alencar, S A SA; Lopes, Julio C D JC
Publication Date: 2010

Variant appearance in text: rs45453791
PubMed Link: 20625407
Variant Present in the following documents:
  • Main text
  • JBB2010-715139.pdf
View BVdb publication page