TGFBR3 c.2167-75C>T

Variant ID: 1-92174415-G-A

NM_003243.4(TGFBR3):c.2167-75C>T

This variant was identified in 6 publications

View GRCh38 version.




Publications:


Transforming Growth Factor Beta Receptor 3 Haplotypes in Sickle Cell Disease Are Associated with Lipid Profile and Clinical Manifestations.

Mediators Of Inflammation
Santiago, Rayra P RP; Figueiredo, Camylla V B CVB; Fiuza, Luciana M LM; Yahouédéhou, Sètondji C M A SCMA; Oliveira, Rodrigo M RM; Aleluia, Milena M MM; Carvalho, Suellen P SP; Fonseca, Cleverson A CA; Nascimento, Valma M L VML; Rocha, Larissa C LC; Guarda, Caroline C CC; Gonçalves, Marilda S MS
Publication Date: 2020

Variant appearance in text: rs2038931
PubMed Link: 33149723
Variant Present in the following documents:
  • Main text
  • MI2020-3185015.pdf
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: rs2038931
PubMed Link: 31786580
Variant Present in the following documents:
  • Main text
  • medscimonit-25-9138.pdf
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: TGFBR3: 2167-75C>T; rs2038931
PubMed Link: 30319441
Variant Present in the following documents:
  • Table_7.xlsx, sheet 1
  • Table_5.xlsx, sheet 1
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: rs2038931
PubMed Link: 28690861
Variant Present in the following documents:
  • hgv201727-s1.xls, sheet 1
View BVdb publication page



Sickle Cell Disease in the Post Genomic Era: A Monogenic Disease with a Polygenic Phenotype.

Genomics Insights
Driss, A A; Asare, K O KO; Hibbert, J M JM; Gee, B E BE; Adamkiewicz, T V TV; Stiles, J K JK
Publication Date: 2009-07-30

Variant appearance in text: rs2038931
PubMed Link: 20401335
Variant Present in the following documents:
  • Main text
  • gei-2-2009-023.pdf
View BVdb publication page



Sickle cell leg ulcers: associations with haemolysis and SNPs in Klotho, TEK and genes of the TGF-beta/BMP pathway.

British Journal Of Haematology
Nolan, Vikki G VG; Adewoye, Adeboye A; Baldwin, Clinton C; Wang, Ling L; Ma, Qianli Q; Wyszynski, Diego F DF; Farrell, John J JJ; Sebastiani, Paola P; Farrer, Lindsay A LA; Steinberg, Martin H MH
Publication Date: 2006-06

Variant appearance in text: rs2038931
PubMed Link: 16681647
Variant Present in the following documents:
  • Main text
View BVdb publication page