Bibliome.ai browser hg19
Search
About
Stats
FAQ
IGF1R c.2783-53T>C
Variant ID: 15-99472734-T-C
NM_000875.3(
IGF1R
):c.2783-53T>C
This variant was identified in 8 publications
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
Integrative proteogenomic characterization of early esophageal cancer.
Nature Communications
Li, Lingling L; Jiang, Dongxian D; Zhang, Qiao Q; Liu, Hui H; Xu, Fujiang F; Guo, Chunmei C; Qin, Zhaoyu Z; Wang, Haixing H; Feng, Jinwen J; Liu, Yang Y; Chen, Weijie W; Zhang, Xue X; Bai, Lin L; Tian, Sha S; Tan, Subei S; Xu, Chen C; Song, Qi Q; Liu, Yalan Y; Zhong, Yunshi Y; Chen, Tianyin T; Zhou, Pinghong P; Zhao, Jian-Yuan JY; Hou, Yingyong Y; Ding, Chen C
Publication Date: 2023-03-25
Variant appearance in text: rs4486868
PubMed Link:
36966136
Variant Present in the following documents:
41467_2023_37440_MOESM4_ESM.xlsx, sheet 2
View BVdb publication page
Integrated proteogenomic characterization across major histological types of pituitary neuroendocrine tumors.
Cell Research
Zhang, Fan F; Zhang, Qilin Q; Zhu, Jiajun J; Yao, Boyuan B; Ma, Chi C; Qiao, Nidan N; He, Shiman S; Ye, Zhao Z; Wang, Yunzhi Y; Han, Rui R; Feng, Jinwen J; Wang, Yongfei Y; Qin, Zhaoyu Z; Ma, Zengyi Z; Li, Kai K; Zhang, Yichao Y; Tian, Sha S; Chen, Zhengyuan Z; Tan, Subei S; Wu, Yue Y; Ran, Peng P; Wang, Ye Y; Ding, Chen C; Zhao, Yao Y
Publication Date: 2022-12
Variant appearance in text: rs4486868
PubMed Link:
36307579
Variant Present in the following documents:
41422_2022_736_MOESM10_ESM.xlsx, sheet 3
View BVdb publication page
A genomic deletion encompassing CRYBB2-CRYBB2P1 is responsible for autosomal recessive congenital cataracts.
Human Genome Variation
Irum, Bushra B; Kabir, Firoz F; Shoshany, Nadav N; Khan, Shahid Y SY; Rauf, Bushra B; Naeem, Muhammad Asif MA; Qaiser, Tanveer A TA; Riazuddin, Sheikh S; Hejtmancik, J Fielding JF; Riazuddin, S Amer SA
Publication Date: 2022-09-08
Variant appearance in text: rs4486868
PubMed Link:
36075891
Variant Present in the following documents:
41439_2022_208_MOESM3_ESM.xlsx, sheet 2
View BVdb publication page
Case Report: Primary Leptomeningeal Medulloblastoma in a Child: Clinical Case Report and Literature Review.
Frontiers In Pediatrics
Morgacheva, Daria D; Daks, Alexandra A; Smirnova, Anna A; Kim, Aleksandr A; Ryzhkova, Daria D; Mitrofanova, Lubov L; Staliarova, Alena A; Omelina, Evgeniya E; Pindyurin, Alexey A; Fedorova, Olga O; Shuvalov, Oleg O; Petukhov, Alexey A; Dinikina, Yulia Y
Publication Date: 2022
Variant appearance in text: IGF1R: 2783-53T>C; rs4486868
PubMed Link:
35899134
Variant Present in the following documents:
Table_1.xlsx, sheet 1
View BVdb publication page
Case Report: A Variant Non-ketotic Hyperglycinemia With GLRX5 Mutations: Manifestation of Deficiency of Activities of the Respiratory Chain Enzymes.
Frontiers In Genetics
Feng, Wei-Xing WX; Zhuo, Xiu-Wei XW; Liu, Zhi-Mei ZM; Li, Jiu-Wei JW; Zhang, Wei-Hua WH; Wu, Yun Y; Han, Tong-Li TL; Fang, Fang F
Publication Date: 2021
Variant appearance in text: IGF1R: 2783-53T>C; rs4486868
PubMed Link:
34054912
Variant Present in the following documents:
Table_2.xlsx, sheet 1
View BVdb publication page
Genetic Evidence Supporting the Role of the Calcium Channel, CACNA1S, in Tooth Cusp and Root Patterning.
Frontiers In Physiology
Laugel-Haushalter, Virginie V; Morkmued, Supawich S; Stoetzel, Corinne C; Geoffroy, Véronique V; Muller, Jean J; Boland, Anne A; Deleuze, Jean-François JF; Chennen, Kirsley K; Pitiphat, Waranuch W; Dollfus, Hélène H; Niederreither, Karen K; Bloch-Zupan, Agnès A; Pungchanchaikul, Patimaporn P
Publication Date: 2018
Variant appearance in text: IGF1R: 2783-53T>C; rs4486868
PubMed Link:
30319441
Variant Present in the following documents:
Table_5.xlsx, sheet 1
Table_7.xlsx, sheet 1
Table_6.xlsx, sheet 1
View BVdb publication page
Growth hormone insensitivity: Mexican case report.
Endocrinology, Diabetes & Metabolism Case Reports
Castilla-Cortazar, I I; De Ita, J R JR; Aguirre, G A GA; García-Magariño, M M; Martín-Estal, I I; Lara-Diaz, V J VJ; Elizondo, M I MI
Publication Date: 2017
Variant appearance in text: IGF1R: 2783-53T>C; rs4486868
PubMed Link:
29147569
Variant Present in the following documents:
Main text
edmcr-2017-170126.pdf
View BVdb publication page
Whole-exome sequencing analysis of Waardenburg syndrome in a Chinese family.
Human Genome Variation
Chen, Dezhong D; Zhao, Na N; Wang, Jing J; Li, Zhuoyu Z; Wu, Changxin C; Fu, Jie J; Xiao, Han H
Publication Date: 2017
Variant appearance in text: rs4486868
PubMed Link:
28690861
Variant Present in the following documents:
hgv201727-s1.xls, sheet 1
View BVdb publication page