All variants in the GLB1 gene

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

3 entries on 1 page. Showing entries 1 - 3.
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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     
?/. - c.1445G>A r.(?) p.(Arg482His) - VUS g.33058235C>T g.33016743C>T - - GLB1_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
+/? 14 c.1445G>A r.(?) p.(Arg482His) - pathogenic (recessive) g.33058235C>T g.33016743C>T p.R482H - GLB1_000002 - PubMed: Mosna et al 1992 - - Unknown - - - 0 - LOVD
+/? 14 c.1445G>A r.(?) p.(Arg482His) - pathogenic (recessive) g.33058235C>T g.33016743C>T p.R482H - GLB1_000002 - PubMed: Mosna et al 1992 - - Unknown - - - 0 - LOVD
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