Individual #00065233

ID_report -
Reference Balci-Hayta ESHG2016 P10.21
Remarks family, 2 affecteds
Gender ?
Consanguinity yes
Country Turkey
Population -
Age/Death -
VIP 0
Data_av -
Treatment -
Panel size 2
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     

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Age/Diagnosis     

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Phenotype details     

Protein     

Owner     
0000051340 - Familial, autosomal recessive - - - - - atypical phenotype, no classical features of desminopathy, neither cardiomyopathy nor typical histological changes; IF staining/WB analysis show preserved expression cytoskeletal network formation variant desmin in skeletal muscle fibres - Johan den Dunnen



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000065385 DNA SEQ - - DES 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     

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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     

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Predicted     

Type/DNA     

Conservation     

CpG     

Enzyme activity     

mRNA level     

Predict/CADD     

Predict/Splice     

Protein level     
2 Both (homozygous) +/. g.220290383A>G g.219425661A>G - - DES_000068 unclear whether effect on RNA/protein was predicted or experimentally determined Balci-Hayta ESHG2016 P10.21 - - Germline yes - - 0 - Johan den Dunnen DES - - - - - 7i NM_001927.3:c.1289-2A>G - pathogenic r.(1288_1289ins1289-48_1289-3insgg) p.(Glu430delins17) - - - - - - - - - - - - - - - - - - -
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