Individual #00245733

ID_report -
Reference PubMed: Higaki et al 2011
Remarks -
Gender -
Consanguinity -
Country -
Population Turkish
Age/Death -
VIP 0
Data_av -
Treatment -
Panel size 1
Diseases gangliosidosis, GM1, infantile
Owner name LOVD


Stop! No phenotypes found for this individual!



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000246845 DNA SEQ - - GLB1 1 -



Variants

1 entry on 1 page. Showing entry 1.
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Chr     

Allele     

Effect     

AscendingDNA 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     

Gene     

Codon change     

IDbase Accession Number     

VariO/DNA     

VariO/Protein     

VariO/RNA     

Exon     

DNA change (cDNA)     

Haplotype     

ClassClinical     

RNA change     

Protein     

P-domain     

Exon_old     

DNA/Legacy     

Function/GVS     

Predict/AGVGD     

Predict/Grantham     

Predict/MutationTaster     

Predict/PolyPhen     

Predict/PolyPhenScore     

Predict/SIFT     

Predicted     

Type/DNA     

Conservation     

CpG     

Enzyme activity     

mRNA level     

Predict/CADD     

Predict/Splice     

Protein level     
3 Both (homozygous) +/? g.33106965A>T - p.I81K - GLB1_000009 - PubMed: Hofer et al 2010 - - Unknown - - - 0 - - GLB1 - - - - - 5 NM_000404.2:c.542T>A - pathogenic (recessive) r.(?) p.(Ile181Lys) - - - - - - - - - - - - - - - - - - -
Legend