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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.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
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