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RET c.789C>G ;(p.Y263*)
Variant ID: 10-43600563-C-G
NM_020975.4(
RET
):c.789C>G;(p.Y263*)
This variant was identified in 4 publications
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
The advances of genetics research on Hirschsprung's disease.
Pediatric Investigation
Ke, Juntao J; Zhu, Ying Y; Miao, Xiaoping X
Publication Date: 2018-09
Variant appearance in text: RET: 789C>G
PubMed Link:
32851260
Variant Present in the following documents:
Main text
PED4-2-189.pdf
View BVdb publication page
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: 789C>G; Y263X
PubMed Link:
31649719
Variant Present in the following documents:
Main text
fgene-10-00924.pdf
View BVdb publication page
RET somatic mutations are underrecognized in Hirschsprung disease.
Genetics In Medicine : Official Journal Of The American College Of Medical Genetics
Jiang, Qian Q; Liu, Fang F; Miao, Chunyue C; Li, Qi Q; Zhang, Zhen Z; Xiao, Ping P; Su, Lin L; Yu, Kaihui K; Chen, Xiaoli X; Zhang, Feng F; Chakravarti, Aravinda A; Li, Long L
Publication Date: 2018-07
Variant appearance in text: RET: 789C>G; Tyr263X
PubMed Link:
29261189
Variant Present in the following documents:
Main text
View BVdb publication page
Sporadic Hirschsprung Disease: Mutational Spectrum and Novel Candidate Genes Revealed by Next-generation Sequencing.
Scientific Reports
Zhang, Zhen Z; Li, Qi Q; Diao, Mei M; Liu, Na N; Cheng, Wei W; Xiao, Ping P; Zou, Jizhen J; Su, Lin L; Yu, Kaihui K; Wu, Jian J; Li, Long L; Jiang, Qian Q
Publication Date: 2017-11-01
Variant appearance in text: RET: 789C>G; Y263X
PubMed Link:
29093530
Variant Present in the following documents:
Main text
41598_2017_Article_14835.pdf
View BVdb publication page