Full data view for gene GLB1

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

4 entries on 1 page. Showing entries 1 - 4.
Legend   How to query  

Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Allele     

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     

Template     

Technique     

Tissue     

Remarks     

Disease     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age at death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
+/? 2 c.175C>T r.(?) p.(Arg59Cys) Parent #1 - pathogenic (recessive) g.33114106G>A g.33072614G>A p.R59C - GLB1_000013 - PubMed: Caciotti et al 2005 - - Unknown - - - 0 - DNA SEQ - - gangliosidosis-III - PubMed: Higaki et al 2011 - - - - - - 0 - - 1 LOVD
+/. - c.175C>T r.(?) p.(Arg59Cys) Unknown - pathogenic g.33114106G>A g.33072614G>A GLB1(NM_000404.2):c.175C>T (p.(Arg59Cys)) - GLB1_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.175C>T r.(?) p.(Arg59Cys) Unknown - pathogenic g.33114106G>A g.33072614G>A GLB1(NM_000404.2):c.175C>T (p.(Arg59Cys)) - GLB1_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. 2 c.175C>T r.(?) p.(Arg59Cys) Unknown ACMG likely pathogenic (recessive) g.33114106G>A - - - GLB1_000013 - Caciotti et al. 2005 - - Germline/De novo (untested) - - - 0 - DNA SEQ-NG-I - - gangliosidosis-I - - - M no - - - - - - 1 Sarah Snanoudj
Legend   How to query