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     
+/. - c.602G>A r.(?) p.(Arg201His) - pathogenic g.33099712C>T g.33058220C>T GLB1(NM_000404.3):c.602G>A (p.R201H) - GLB1_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Groningen
+/? 6 c.602G>A r.(?) p.(Arg201His) - pathogenic (recessive) g.33099712C>T g.33058220C>T p.R201H - GLB1_000011 - - - - Unknown - - - 0 - LOVD
+/? 6 c.602G>A r.(?) p.(Arg201His) - pathogenic (recessive) g.33099712C>T g.33058220C>T p.R201H - GLB1_000011 - - - - Unknown - - - 0 - LOVD
?/. 6 c.602G>A r.(?) p.(Arg201His) - VUS g.33099712C>T g.33058220C>T 33114065C>T - GLB1_000011 - Kaye et al. 1997 - - Germline/De novo (untested) - - - 0 - Sarah Snanoudj
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