Bibliome.ai browser hg19
Search
About
Stats
FAQ
RET c.3267A>G ;(p.R1089=)
Variant ID: 10-43623639-A-G
NM_020975.4(
RET
):c.3267A>G;(p.R1089=)
This variant was identified in 1 publication
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
Sequence characterization of RET in 117 Chinese Hirschsprung disease families identifies a large burden of de novo and parental mosaic mutations.
Orphanet Journal Of Rare Diseases
Jiang, Qian Q; Wang, Yang Y; Li, Qi Q; Zhang, Zhen Z; Xiao, Ping P; Wang, Hui H; Liu, Na N; Wu, Jian J; Zhang, Feng F; Chakravarti, Aravinda A; Cai, Wei W; Li, Long L
Publication Date: 2019-10-30
Variant appearance in text: RET: Arg1089Arg
PubMed Link:
31666091
Variant Present in the following documents:
Main text
13023_2019_Article_1194.pdf
View BVdb publication page