All variants in the GLB1 gene

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

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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     
+/? 3 c.391G>A r.(?) p.(Glu131Lys) - pathogenic (recessive) g.33110317C>T g.33068825C>T p.E131K - GLB1_000017 - PubMed: Higaki et al 2011 - - Unknown - - - 0 - LOVD
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