All variants in the GLB1 gene

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

4 entries on 1 page. Showing entries 1 - 4.
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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     
+/? 6 c.622C>T r.(?) p.(Arg208Cys) - pathogenic (recessive) g.33099692G>A g.33058200G>A p.R208C - GLB1_000004 - PubMed: Boustany et al 1993 - - Unknown - - - 0 - LOVD
+/. - c.622C>T r.(?) p.(Arg208Cys) ACMG pathogenic g.33099692G>A g.33058200G>A - - GLB1_000004 ACMG grading: PM3,PP3,PS4,PM2,PP1; reported in Boustany 1993. Am J Hum Genet 53: 881; Caciotti 2005. Hum Mutat 25: 285 - - rs72555366 Germline - - - 0 - Andreas Laner
?/. 6 c.622C>T r.(?) p.(Arg208Cys) - VUS g.33099692G>A - - - GLB1_000004 - Boustany et al. 1993 - - Germline/De novo (untested) - - - 0 - Sarah Snanoudj
?/. 6 c.622C>T r.(?) p.(Arg208Cys) - VUS g.33099692G>A - - - GLB1_000004 - Boustany et al. 1993 - - Germline/De novo (untested) - - - 0 - Sarah Snanoudj
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