All variants in the GLB1 gene

Information The variants shown are described using the NM_000404.2 transcript reference sequence.

3 entries on 1 page. Showing entries 1 - 3.
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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     
+/? 1i c.75+2dup r.spl? p.? - pathogenic (recessive) g.33138501dup g.33097009dup c.75+3_3insT - GLB1_000025 - PubMed: Chakraborty et al 1994 - - Unknown - - - 0 - LOVD
+?/. - c.75+2dup r.spl? p.? - likely pathogenic g.33138501dup g.33097009dup GLB1(NM_001317040.1):c.75+2dupT - GLB1_000078 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 c.75+2dup r.spl? p.? - VUS g.33138501dup - - - GLB1_000025 - Chakraborty et al. 1994 - - Germline - - - 0 - Sarah Snanoudj
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