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.1733A>G r.(?) p.(Lys578Arg) - likely pathogenic g.33055549T>C g.33014057T>C - - GLB1_000063 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. 15 c.1733A>G r.(?) p.(Lys578Arg) - VUS g.33055549T>C - - - GLB1_000063 - Boustany et al. 1993 - - Germline - - - 0 - Sarah Snanoudj
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