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RET c.3148C>T ;(p.R1050*)
Variant ID: 10-43622131-C-T
NM_020975.4(
RET
):c.3148C>T;(p.R1050*)
This variant was identified in 2 publications
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
Distribution of RET proto-oncogene variants in children with appendicitis.
Molecular Genetics & Genomic Medicine
Schultz, Jurek J; Freibothe, Ines I; Haase, Michael M; Glatte, Patrick P; Barreton, Gustavo G; Ziegler, Andreas A; Görgens, Heike H; Fitze, Guido G
Publication Date: 2022-01-03
Variant appearance in text: RET: Arg1050*
PubMed Link:
34981673
Variant Present in the following documents:
Main text
MGG3-10-e1864.pdf
View BVdb publication page
Distribution of RET proto-oncogene variants in children with appendicitis.
Molecular Genetics & Genomic Medicine
Schultz, Jurek J; Freibothe, Ines I; Haase, Michael M; Glatte, Patrick P; Barreton, Gustavo G; Ziegler, Andreas A; Görgens, Heike H; Fitze, Guido G
Publication Date: 2022-02
Variant appearance in text: RET: Arg1050*
PubMed Link:
34981673
Variant Present in the following documents:
Main text
MGG3-10-e1864.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: 3148C>T; Arg1050X
PubMed Link:
29261189
Variant Present in the following documents:
Main text
View BVdb publication page