Full data view for gene GLB1

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

5 entries on 1 page. Showing entries 1 - 5.
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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     
+/. - c.601C>T r.(?) p.(Arg201Cys) Unknown - pathogenic g.33099713G>A g.33058221G>A GLB1(NM_000404.3):c.601C>T (p.R201C) - GLB1_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. - c.601C>T r.(?) p.(Arg201Cys) Unknown - pathogenic g.33099713G>A g.33058221G>A GLB1(NM_000404.3):c.601C>T (p.R201C) - GLB1_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/? 6 c.601C>T r.(?) p.(Arg201Cys) Parent #1 - pathogenic (recessive) g.33099713G>A g.33058221G>A p.R201C - GLB1_000010 - PubMed: Oshima et al 1991 - - Unknown - - - 0 - DNA SEQ - - gangliosidosis-III - PubMed: Higaki et al 2011 - - - - - - 0 - - 1 LOVD
+/? 6 c.601C>T r.(?) p.(Arg201Cys) Parent #1 - pathogenic (recessive) g.33099713G>A g.33058221G>A p.R201C - GLB1_000010 - PubMed: Oshima et al 1991 - - Unknown - - - 0 - DNA SEQ - - gangliosidosis-III - PubMed: Higaki et al 2011 - - - - Japanese - 0 - - 1 LOVD
+/? 6 c.601C>T r.(?) p.(Arg201Cys) Parent #1 - pathogenic (recessive) g.33099713G>A g.33058221G>A p.R201C - GLB1_000010 - PubMed: Oshima et al 1991 - - Unknown - - - 0 - DNA SEQ - - gangliosidosis-I - PubMed: Higaki et al 2011 - - - - Estonian - 0 - - 1 LOVD
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