All variants in the GLB1 gene

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

2 entries on 1 page. Showing entries 1 - 2.
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     
+/? 2 c.145C>T r.(?) p.(Arg49Cys) - pathogenic (recessive) g.33114136G>A g.33072644G>A p.R49C - GLB1_000016 - PubMed: Nishimoto et al 1991 - - Unknown - - - 0 - LOVD
+/. 2 c.145C>T r.(?) p.(Arg49Cys) - pathogenic g.33114136G>A g.33072644G>A - - GLB1_000016 - PubMed: Ganapathy 2019 - - Germline - - - 0 - Johan den Dunnen
Legend   How to query