Individual #00460230

ID_report Pat1
Reference PubMed: Marti 2025
Remarks patient, no family history
Gender -
Consanguinity -
Country Spain
Population -
Age at death -
VIP -
Data_av -
Treatment -
Panel size 1
Diseases hCK
Owner name Johan den Dunnen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
Date created 2025-01-22 12:23:09 +01:00 (CET)
Date last edited N/A


Phenotypes

hyperCKemia (hCK, elevated serum creatine phosphokinase) (hCK)   Add phenotype for this disease

AscendingPhenotype ID     

Phenotype details     

Diagnosis/Initial     

Diagnosis/Definite     

Inheritance     

Age/Examination     

Age/Diagnosis     

Age/Onset     

Phenotype/Onset     

Protein     

Owner     
0000347959 exercise intolerance; elevated CK level 1300-3500 UI/L; vacuoles, glycogen storage; MRI muscle focal fat replacement leg compartment exercise intolerance - Unknown 0y-9y - - - IHC normal sarcolemma immunostaining Johan den Dunnen



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000461861 DNA SEQ;SEQ-NG - WES - 2 Johan den Dunnen



Variants

2 entries on 1 page. Showing entries 1 - 2.
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Chr     

Allele     

Effect     

Classification method     

Clinical classification     

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     

IDbase Accession Number     

VariO/DNA     

VariO/Protein     

VariO/RNA     

Exon     

DNA change (cDNA)     

Haplotype     

RNA change     

Protein     

P-domain     

Exon_old     

Function/GVS     

Predict/AGVGD     

Predict/MutationTaster     

Predict/SIFT     

Predicted     

Type/DNA     

CpG     

Enzyme activity     

mRNA level     

Predict-BioInf     

Legacy protein change     

Protein level     
1 Parent #1 +/. - pathogenic (recessive) g.100327867_100327892del g.99862311_99862336del c.348_373delTGCTGATAATCATGTGCTACCCTTGG - AGL_000104 - PubMed: Marti 2025 - - Germline - - - - - Johan den Dunnen AGL - - - - - NM_000642.2:c.348_373del - r.(?) p.(Ala117LeufsTer10) - - - - - - - - - - - - - -
1 Parent #2 +/. - pathogenic (recessive) g.100358120_100358121del g.99892564_99892565del c.3216_3217delGA - AGL_000105 - PubMed: Marti 2025 - - Germline - - - - - Johan den Dunnen AGL - - - - - NM_000642.2:c.3216_3217del - r.(?) p.(Glu1072AspfsTer36) - - - - - - - - - - - - - -
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