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     
+/? 13 c.1259C>A r.(?) p.(Thr420Lys) - pathogenic (recessive) g.33060028G>T g.33018536G>T p.T420K - GLB1_000015 - PubMed: Santamaria et al 2006 - - Unknown - - - 0 - LOVD
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