GC c.472del ;(p.Q158Nfs*18)

Variant ID: 4-72631150-TG-T

NM_000583.3(GC):c.472del;(p.Q158Nfs*18)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Genetic investigation of 211 Chinese families expands the mutational and phenotypical spectra of hereditary retinopathy genes through targeted sequencing technology.

Bmc Medical Genomics
Bai, Zhouxian Z; Xie, Yanchuan Y; Liu, Lina L; Shao, Jingzhi J; Liu, Yuying Y; Kong, Xiangdong X
Publication Date: 2021-03-29

Variant appearance in text: GC: 472delC
PubMed Link: 33781268
Variant Present in the following documents:
  • 12920_2021_Article_935.pdf
View BVdb publication page



Pan-urologic cancer genomic subtypes that transcend tissue of origin.

Nature Communications
Chen, Fengju F; Zhang, Yiqun Y; Bossé, Dominick D; Lalani, Aly-Khan A AA; Hakimi, A Ari AA; Hsieh, James J JJ; Choueiri, Toni K TK; Gibbons, Don L DL; Ittmann, Michael M; Creighton, Chad J CJ
Publication Date: 2017-08-04

Variant appearance in text: GC: 472delC
PubMed Link: 28775315
Variant Present in the following documents:
  • 41467_2017_289_MOESM7_ESM.xlsx, sheet 1
View BVdb publication page