Bibliome.ai browser hg19
Search
About
Stats
FAQ
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.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
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