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     
+/? 2 c.245C>T r.(?) p.(Thr82Met) - pathogenic (recessive) g.33114036G>A g.33072544G>A p.T82M - GLB1_000014 - PubMed: Chakraborty et al 1994 - - Unknown - - - 0 - LOVD
+?/. - c.245C>T r.(?) p.(Thr82Met) - likely pathogenic g.33114036G>A g.33072544G>A - - GLB1_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
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