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     
+?/. - c.481T>G r.(?) p.(Trp161Gly) ACMG likely pathogenic g.33107026A>C g.33065534A>C - - GLB1_000080 ACMG grading: PM3,PP3,PS4,PM2; PS3_moderate; reported in Caciotti 2011. Biochim Biophys Acta 7: 782; Higaki 2011. Hum Mutat 32: 843; Kwak 2015. Biochem Biophys Res Commun 457: 554 - - rs398123355 Germline - - - 0 - Andreas Laner
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