RET c.74-5792T>C

Variant ID: 10-43590115-T-C

NM_020975.4(RET):c.74-5792T>C

This variant was identified in 4 publications

View GRCh38 version.




Publications:


A multi-enhancer RET regulatory code is disrupted in Hirschsprung disease.

Genome Research
Chatterjee, Sumantra S; Karasaki, Kameko M KM; Fries, Lauren E LE; Kapoor, Ashish A; Chakravarti, Aravinda A
Publication Date: 2021-11-15

Variant appearance in text: rs2505541
PubMed Link: 34782358
Variant Present in the following documents:
  • Main text
  • 2199.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: RET: 74-5792T>C; rs2505541
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: rs2505541
PubMed Link: 33791233
Variant Present in the following documents:
  • Table_2.xlsx, sheet 1
View BVdb publication page



Identifying candidate Hirschsprung disease-associated RET variants.

American Journal Of Human Genetics
Burzynski, Grzegorz M GM; Nolte, Ilja M IM; Bronda, Agnes A; Bos, Krista K KK; Osinga, Jan J; Plaza Menacho, Ivan I; Twigt, Bas B; Maas, Saskia S; Brooks, Alice S AS; Verheij, Joke B G M JB; Buys, Charles H C M CH; Hofstra, Robert M W RM
Publication Date: 2005-05

Variant appearance in text: rs2505541
PubMed Link: 15759212
Variant Present in the following documents:
  • Main text
View BVdb publication page