TGFBR1 c.805+39A>G

Variant ID: 9-101900410-A-G

NM_004612.2(TGFBR1):c.805+39A>G

This variant was identified in 8 publications

View GRCh38 version.




Publications:


Single Nucleotide Polymorphisms of IL-33 Gene Correlated with Renal Allograft Fibrosis in Kidney Transplant Recipients.

Journal Of Immunology Research
Liu, Xuzhong X; Liu, Kun K; Gui, Zeping Z; Feng, Dengyuan D; Wang, Zijie Z; Zheng, Ming M; Fei, Shuang S; Chen, Hao H; Sun, Li L; Han, Zhijian Z; Ju, Xiaobing X; Zhang, Hengcheng H; Tan, Ruoyun R; Gu, Min M
Publication Date: 2021

Variant appearance in text: rs11568778
PubMed Link: 34950738
Variant Present in the following documents:
  • JIR2021-8029180.pdf
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: TGFBR1: 805+39A>G; rs11568778
PubMed Link: 34054912
Variant Present in the following documents:
  • Table_2.xlsx, sheet 1
View BVdb publication page



Disseminated Talaromyces marneffei Infection in a Non-HIV Infant With a Homozygous Private Variant of RELB.

Frontiers In Cellular And Infection Microbiology
Ding, Xiaofang X; Huang, Han H; Zhong, Lili L; Chen, Min M; Peng, Fang F; Zhang, Bing B; Cui, Xinyu X; Yang, Xiu-An XA
Publication Date: 2021

Variant appearance in text: rs11568778
PubMed Link: 33791233
Variant Present in the following documents:
  • Table_2.xlsx, sheet 1
View BVdb publication page



A Single-Nucleotide Polymorphism (rs1131243) of the Transforming Growth Factor Beta Signaling Pathway Contributes to Risk of Acute Rejection in Chinese Renal Transplant Recipients.

Medical Science Monitor : International Medical Journal Of Experimental And Clinical Research
Zheng, Ming M; Yang, Haiwei H; Li, Wencheng W; Zhou, Jiajun J; Wei, Jintao J; Wang, Zijie Z; Guo, Miao M; Chen, Hao H; Sun, Li L; Han, Zhijian Z; Tao, Jun J; Ju, Xiaobing X; Tan, Ruoyun R; Wei, Jifu J; Gu, Min M
Publication Date: 2019-12-01

Variant appearance in text: rs11568778
PubMed Link: 31786580
Variant Present in the following documents:
  • Main text
  • medscimonit-25-9138.pdf
View BVdb publication page



PGG.SNV: understanding the evolutionary and medical implications of human single nucleotide variations in diverse populations.

Genome Biology
Zhang, Chao C; Gao, Yang Y; Ning, Zhilin Z; Lu, Yan Y; Zhang, Xiaoxi X; Liu, Jiaojiao J; Xie, Bo B; Xue, Zhe Z; Wang, Xiaoji X; Yuan, Kai K; Ge, Xueling X; Pan, Yuwen Y; Liu, Chang C; Tian, Lei L; Wang, Yuchen Y; Lu, Dongsheng D; Hoh, Boon-Peng BP; Xu, Shuhua S
Publication Date: 2019-10-22

Variant appearance in text: TGFBR1: 805+39A>G; rs11568778
PubMed Link: 31640808
Variant Present in the following documents:
  • 13059_2019_1838_MOESM3_ESM.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: TGFBR1: 805+39A>G; rs11568778
PubMed Link: 30319441
Variant Present in the following documents:
  • Table_5.xlsx, sheet 1
  • Table_7.xlsx, sheet 1
View BVdb publication page



Association between Altered Expression and Genetic Variations of Transforming Growth Factor β-Smad Pathway with Chronic Myeloid Leukemia.

International Journal Of Hematology-Oncology And Stem Cell Research
Shokeen, Yogender Y; Sharma, Neeta Raj NR; Vats, Abhishek A; Dinand, Veronique V; Beg, Mirza Adil MA; Sanskaran, Satish S; Minhas, Sachin S; Jauhri, Mayank M; Hariharan, Arun K AK; Taneja, Vibha V; Aggarwal, Shyam S
Publication Date: 2018-01-01

Variant appearance in text: rs11568778
PubMed Link: 29951173
Variant Present in the following documents:
  • Main text
  • IJHOSCR-12-14.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: rs11568778
PubMed Link: 28690861
Variant Present in the following documents:
  • hgv201727-s1.xls, sheet 1
View BVdb publication page