RET c.1947G>A ;(p.S649=)

Variant ID: 10-43609995-G-A

NM_020975.4(RET):c.1947G>A;(p.S649=)

This variant was identified in 5 publications

View GRCh38 version.




Publications:


Functional Studies on Novel RET Mutations and Their Implications for Genetic Counseling for Hirschsprung Disease.

Frontiers In Genetics
Wang, Hui H; Li, Qi Q; Zhang, Zhen Z; Xiao, Ping P; Li, Long L; Jiang, Qian Q
Publication Date: 2019

Variant appearance in text: RET: 1947G>A; S649S
PubMed Link: 31649719
Variant Present in the following documents:
  • Main text
  • fgene-10-00924.pdf
View BVdb publication page



Formalin fixation increases deamination mutation signature but should not lead to false positive mutations in clinical practice.

Plos One
Prentice, Leah M LM; Miller, Ruth R RR; Knaggs, Jeff J; Mazloomian, Alborz A; Aguirre Hernandez, Rosalia R; Franchini, Patrick P; Parsa, Kourosh K; Tessier-Cloutier, Basile B; Lapuk, Anna A; Huntsman, David D; Schaeffer, David F DF; Sheffield, Brandon S BS
Publication Date: 2018

Variant appearance in text: RET: S649S
PubMed Link: 29698444
Variant Present in the following documents:
  • pone.0196434.s001.xlsx, sheet 3
  • pone.0196434.s001.xlsx, sheet 1
  • pone.0196434.s001.xlsx, sheet 2
View BVdb publication page



Amplicon sequencing of colorectal cancer: variant calling in frozen and formalin-fixed samples.

Plos One
Betge, Johannes J; Kerr, Grainne G; Miersch, Thilo T; Leible, Svenja S; Erdmann, Gerrit G; Galata, Christian L CL; Zhan, Tianzuo T; Gaiser, Timo T; Post, Stefan S; Ebert, Matthias P MP; Horisberger, Karoline K; Boutros, Michael M
Publication Date: 2015

Variant appearance in text: RET: S649S
PubMed Link: 26010451
Variant Present in the following documents:
  • pone.0127146.s014.xlsx, sheet 3
View BVdb publication page



Copy number variants in candidate genes are genetic modifiers of Hirschsprung disease.

Plos One
Jiang, Qian Q; Ho, Yen-Yi YY; Hao, Li L; Nichols Berrios, Courtney C; Chakravarti, Aravinda A
Publication Date: 2011

Variant appearance in text: RET: S649S
PubMed Link: 21712996
Variant Present in the following documents:
  • Main text
  • pone.0021219.pdf
View BVdb publication page



A human model for multigenic inheritance: phenotypic expression in Hirschsprung disease requires both the RET gene and a new 9q31 locus.

Proceedings Of The National Academy Of Sciences Of The United States Of America
Bolk, S S; Pelet, A A; Hofstra, R M RM; Angrist, M M; Salomon, R R; Croaker, D D; Buys, C H CH; Lyonnet, S S; Chakravarti, A A
Publication Date: 2000-01-04

Variant appearance in text: RET: S649S
PubMed Link: 10618407
Variant Present in the following documents:
  • Main text
View BVdb publication page