Individual #00100410

ID_report 23989969-Pat
Reference PubMed: Cerevolo 2014, Journal: Cerevolo 2014
Remarks 2-generation family, 1 affected, unaffected heterozygous carrier parents
Gender M
Consanguinity -
Country Italy
Population -
Age/Death -
VIP 0
Data_av -
Treatment -
Panel size 1
Diseases LGMD-2
Owner name Johan den Dunnen


Phenotypes

dystrophy, muscular, limb-girdle, autosomal recessive, type 2 (LGMD-2) (LGMD-2)   Add phenotype for this disease

AscendingPhenotype ID     

Diagnosis/Initial     

Inheritance     

Age/Examination     

Diagnosis/Definite     

Age/Diagnosis     

Age/Onset     

Phenotype/Onset     

Phenotype details     

Protein     

Owner     
0000078601 - Familial, autosomal recessive 08y - - 05y myoglobinuria see paper; ..., dark urine 10d after episode of fever and sore throat treated with antibiotics; 8y-mild waddling gait, lumbar hyperlordosis, slightly positive Gower’s maneuver, CPK 8,000–12,000 U/L - Johan den Dunnen



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000100815 DNA SEQ - - SGCA, SGCB, SGCD, SGCG 1 Johan den Dunnen



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     
17 Both (homozygous) +/+ g.48245014C>T g.50167653C>T 299C>T - SGCA_000003 - PubMed: Cerevolo 2014, Journal: Cerevolo 2014 - - Germline yes - - 0 - Johan den Dunnen SGCA - - - - - 3 NM_000023.2:c.229C>T - - r.(?) p.(Arg77Cys) - - - - - - - - - - - - - - - - - - -
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