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