Individual #00106929

ID_report -
Reference PubMed: Rodriguez-Mari 2003
Remarks -
Gender -
Consanguinity -
Country -
Population -
Age/Death -
VIP 0
Data_av -
Treatment -
Panel size 1
Diseases Fabry
Owner name LOVD-team, but with Curator vacancy


Phenotypes

Fabry's disease (Fabry)   Add phenotype for this disease

AscendingPhenotype ID     

Phenotype details     

Diagnosis/Initial     

Diagnosis/Definite     

Inheritance     

Age/Examination     

Age/Diagnosis     

Age/Onset     

Phenotype/Onset     

Protein     

Owner     
0000084726 - - - Unknown - - - - - LOVD-team, but with Curator vacancy



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000107400 DNA SEQ - - GLA 1 LOVD-team, but with Curator vacancy



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     
X Maternal (inferred) +/. g.100656659C>G g.101401671C>G - - GLA_000058 - PubMed: Rodriguez-Mari 2003 - - Germline - - - 0 - LOVD-team, but with Curator vacancy GLA - - - - - 3 NM_000169.2:c.508G>C - - r.(?) p.(Asp170His) - - - - - - - - - - - - - - - - - - -
Legend