All variants in the GLB1 gene

Information The variants shown are described using the NM_000404.2 transcript reference sequence.

1 entry on 1 page. Showing entry 1.
Legend   How to query  

Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Classification method     

Clinical classification     

DNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Owner     
+/? 13 c.1343A>T r.(?) p.(Asp448Val) - pathogenic (recessive) g.33059944T>A g.33018452T>A p.D448V - GLB1_000019 - PubMed: Hofer et al 2010 - - Unknown - - - 0 - LOVD
Legend   How to query