RET c.73+2157T>C

Variant ID: 10-43574936-T-C

NM_020975.4(RET):c.73+2157T>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: rs2506011
PubMed Link: 34782358
Variant Present in the following documents:
  • 2199.pdf
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Large-scale replication study identified multiple independent SNPs in RET synergistically associated with Hirschsprung disease in Southern Chinese population.

Aging
Zhang, Yan Y; He, Qiuming Q; Zhang, Ruizhong R; Zhang, Hong H; Zhong, Wei W; Xia, Huimin H
Publication Date: 2017-09-20

Variant appearance in text: rs2506011
PubMed Link: 28930629
Variant Present in the following documents:
  • Main text
  • aging-09-1996.pdf
View BVdb publication page



Haplotype analysis reveals a possible founder effect of RET mutation R114H for Hirschsprung's disease in the Chinese population.

Plos One
Cornes, Belinda K BK; Tang, Clara S CS; Leon, Thomas Y Y TY; Hui, Kenneth J W S KJ; So, Man-Ting MT; Miao, Xiaoping X; Cherny, Stacey S SS; Sham, Pak C PC; Tam, Paul K H PK; Garcia-Barcelo, Maria-Merce MM
Publication Date: 2010-06-02

Variant appearance in text: rs2506011
PubMed Link: 20532249
Variant Present in the following documents:
  • Main text
  • pone.0010918.pdf
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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: rs2506011
PubMed Link: 15759212
Variant Present in the following documents:
  • Main text
View BVdb publication page