All variants in the GLB1 gene

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

4 entries on 1 page. Showing entries 1 - 4.
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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     
+/? 2 c.175C>T r.(?) p.(Arg59Cys) - pathogenic (recessive) g.33114106G>A g.33072614G>A p.R59C - GLB1_000013 - PubMed: Caciotti et al 2005 - - Unknown - - - 0 - LOVD
+/. - c.175C>T r.(?) p.(Arg59Cys) - pathogenic g.33114106G>A g.33072614G>A GLB1(NM_000404.2):c.175C>T (p.(Arg59Cys)) - GLB1_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+/. - c.175C>T r.(?) p.(Arg59Cys) - pathogenic g.33114106G>A g.33072614G>A GLB1(NM_000404.2):c.175C>T (p.(Arg59Cys)) - GLB1_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. 2 c.175C>T r.(?) p.(Arg59Cys) ACMG likely pathogenic (recessive) g.33114106G>A - - - GLB1_000013 - Caciotti et al. 2005 - - Germline/De novo (untested) - - - 0 - Sarah Snanoudj
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