All variants in the GLB1 gene

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

5 entries on 1 page. Showing entries 1 - 5.
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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.176G>A r.(?) p.(Arg59His) - pathogenic g.33114105C>T g.33072613C>T GLB1(NM_000404.3):c.176G>A (p.R59H) - GLB1_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Groningen
+/. - c.176G>A r.(?) p.(Arg59His) - pathogenic g.33114105C>T g.33072613C>T GLB1(NM_000404.3):c.176G>A (p.R59H) - GLB1_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
+/? 2 c.176G>A r.(?) p.(Arg59His) - pathogenic (recessive) g.33114105C>T g.33072613C>T p.R59H - GLB1_000005 - PubMed: Silva et al 1999 - - Unknown - - - 0 - LOVD
+/? 2 c.176G>A r.(?) p.(Arg59His) - pathogenic (recessive) g.33114105C>T g.33072613C>T p.R59H - GLB1_000005 - PubMed: Silva et al 1999 - - Unknown - - - 0 - LOVD
+/? 2 c.176G>A r.(?) p.(Arg59His) - pathogenic (recessive) g.33114105C>T g.33072613C>T p.R59H - GLB1_000005 - PubMed: Silva et al 1999 - - Unknown - - - 0 - LOVD
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