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.623G>A r.(?) p.(Arg208His) - likely benign g.33099691C>T g.33058199C>T GLB1(NM_000404.2):c.623G>A (p.(Arg208His)), GLB1(NM_001317040.1):c.767G>A (p.R256H) - GLB1_000071 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.623G>A r.(?) p.(Arg208His) - likely benign g.33099691C>T g.33058199C>T GLB1(NM_000404.2):c.623G>A (p.(Arg208His)), GLB1(NM_001317040.1):c.767G>A (p.R256H) - GLB1_000071 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
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