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.817_818delinsCT r.(?) p.(Trp273Leu) - pathogenic g.33093471_33093472delinsAG g.33051979_33051980delinsAG GLB1(NM_000404.3):c.817_818delTGinsCT (p.W273L) - GLB1_000053 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
?/. 8 c.817_818delinsCT r.(?) p.(Trp273Leu) - VUS g.33093471_33093472delinsAG - - - GLB1_000053 - Oshima et al. 1991 - - Germline/De novo (untested) - - - 0 - Sarah Snanoudj
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