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     
+?/. 14 c.1456G>A r.(?) p.(Gly486Ser) ACMG likely pathogenic (recessive) g.33058224C>T - - - GLB1_000098 - Tebani et al. 2020, submitted - - Germline - - - 0 - Sarah Snanoudj
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