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.438_440del r.(?) p.(Leu147del) - pathogenic g.33109743_33109745del g.33068251_33068253del GLB1(NM_000404.3):c.438_440delTCT (p.L147del) - GLB1_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
+/? 4 c.438_440del r.(?) p.(Leu147del) - pathogenic (recessive) g.33109743_33109745del g.33068251_33068253del c.436_438delCTT; p.L146del - GLB1_000022 - PubMed: Higaki et al 2011 - - Unknown - - - 0 - LOVD
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