GC c.1385del ;(p.C462Lfs*9)

Variant ID: 4-72618245-AC-A

NM_000583.3(GC):c.1385del;(p.C462Lfs*9)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


The prevalence, genetic complexity and population-specific founder effects of human autosomal recessive disorders.

Npj Genomic Medicine
Xiao, Qingyang Q; Lauschke, Volker M VM
Publication Date: 2021-06-02

Variant appearance in text: GC: 1385delG
PubMed Link: 34078906
Variant Present in the following documents:
  • 41525_2021_203_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



Novel frameshift mutations of ANKUB1, GLI3, and TAS2R3 associated with polysyndactyly in a Chinese family.

Molecular Genetics & Genomic Medicine
Zhang, Lishan L; Chen, Xiaobin X; Xu, Lanwei L; Guan, Shibing S; Wang, Dehua D; Lin, Yanliang Y; Wang, Zengtao Z
Publication Date: 2020-06

Variant appearance in text: GC: 1385delG
PubMed Link: 32253825
Variant Present in the following documents:
  • Main text
View BVdb publication page