All variants in the GLB1 gene

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

2 entries on 1 page. Showing entries 1 - 2.
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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.808T>G r.(?) p.(Tyr270Asp) - pathogenic g.33093481A>C g.33051989A>C - - GLB1_000018 - - - - Unknown - - - 0 - IMGAG
+/? 8 c.808T>G r.(?) p.(Tyr270Asp) - pathogenic (recessive) g.33093481A>C g.33051989A>C p.Y270D - GLB1_000018 - PubMed: Paschke et al 2001 - - Unknown - - - 0 - LOVD
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