Individual #00088159

ID_report -
Reference PubMed: Sabourdy 2009, Journal: Sabourdy 2009
Remarks 3-generation family, 3 affecteds (F, 2M) mother and 2 sons
Gender F;M
Consanguinity -
Country Greece
Population -
Age/Death -
VIP 0
Data_av -
Treatment -
Panel size 3
Diseases Danon
Owner name Johan den Dunnen


Phenotypes

Danon disease (glycogen storage disease, type IIb (GSD-2B)) (Danon;GSD-2B)   Add phenotype for this disease

AscendingPhenotype ID     

Phenotype details     

Diagnosis/Initial     

Diagnosis/Definite     

Inheritance     

Age/Examination     

Age/Diagnosis     

Age/Onset     

Phenotype/Onset     

Protein     

Owner     
0000067632 see paper; ... - - Familial, X-linked dominant - - - - - Johan den Dunnen



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000088299 DNA SEQ - - GLA, LAMP2 2 Johan den Dunnen



Variants

2 entries on 1 page. Showing entries 1 - 2.
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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 Unknown -/. g.100653420C>A g.101398432C>A - - GLA_000001 - - - - Germline - - - 0 - Johan den Dunnen GLA - - - - - - NM_000169.2:c.937G>T - - r.(?) p.(Asp313Tyr) - - - - - - - - - - - - - - - - - - -
X Maternal (confirmed) +/. g.119581721delA g.120447866delA - - LAMP2_000015 not in 101 chromosomes PubMed: Sabourdy 2009, Journal: Sabourdy 2009 - - Germline - - - 0 - Johan den Dunnen LAMP2 - - - - - 5 NM_001122606.1:c.716delT, NM_013995.2:c.716delT - - r.(?) p.(Leu239Argfs*3) - - - - - - - - - - - - - - - - - - -
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