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     
+/? 9 c.947A>G r.(?) p.(Tyr316Cys) - pathogenic (recessive) g.33093258T>C g.33051766T>C p.Y316C - GLB1_000028 - PubMed: Oshima et al 1991 - - Unknown - - - 0 - LOVD
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