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GPNMB c.219G>A ;(p.W73*)
Variant ID: 7-23293074-G-A
NM_002510.2(
GPNMB
):c.219G>A;(p.W73*)
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:
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: GPNMB: 219G>A; Trp73Ter; rs1429594600
PubMed Link:
34078906
Variant Present in the following documents:
41525_2021_203_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page