Individual #00133547

ID_report -
Reference PubMed: Ginjaar
Remarks -
Gender F
Consanguinity -
Country Netherlands
Population -
Age/Death >47y (later than 47 years)
VIP 0
Data_av -
Treatment -
Panel size 1
Diseases MD
Owner name Ieke Ginjaar


Phenotypes

dystrophy, muscular (MD) (MD)   Add phenotype for this disease

AscendingPhenotype ID     

Phenotype details     

Diagnosis/Initial     

Diagnosis/Definite     

Inheritance     

Age/Examination     

Age/Diagnosis     

Age/Onset     

Phenotype/Onset     

Protein     

Owner     
0000106294 44y-inable to walk (HP:0002540); 24x elevated CPK (HP:0003236) muscular dystrophy, Duchenne-like - Isolated (sporadic) - - 6y - IHC SGCA, SGCB, SGCG reduced Ieke Ginjaar



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000134384 DNA SEQ - - SGCA 2 Ieke Ginjaar



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     
4 Parent #1 +/. g.52895932G>A g.52029766G>A - - SGCB_000012 - PubMed: Ginjaar - - Germline - - - 0 - Ieke Ginjaar SGCB - - - - - 3 NM_000232.4:c.341C>T - - r.341c>u p.(Ser114Phe) - - - - - - - - - - - - - - - - - - -
4 Parent #2 +/. g.52895932G>A g.52029766G>A - - SGCB_000012 - PubMed: Ginjaar - - Germline - - - 0 - Ieke Ginjaar SGCB - - - - - 3 NM_000232.4:c.341C>T - - r.341c>u p.(Ser114Phe) - - - - - - - - - - - - - - - - - - -
Legend