Individual #00133560

ID_report -
Reference PubMed: Boito
Remarks -
Gender M
Consanguinity -
Country Italy
Population -
Age at death -
VIP -
Data_av -
Treatment -
Panel size 1
Diseases LGMD
Owner name Johan den Dunnen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen


Phenotypes

dystrophy, muscular, limb-girdle (LGMD) (LGMD)   Add phenotype for this disease

AscendingPhenotype ID     

Phenotype details     

Diagnosis/Initial     

Diagnosis/Definite     

Inheritance     

Age/Examination     

Age/Diagnosis     

Age/Onset     

Phenotype/Onset     

Protein     

Owner     
0000106307 - dystrophy, muscular, limb-girdle (LGMD), cardiomyopathy, dilated (DCM) - Isolated (sporadic) - - 7y - WB SGCA 10%, IHC SGCA, SGCB, SGCG, SGCD severly reduced Johan den Dunnen



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000134397 DNA;RNA RT-PCR;SSCA - - SGCA 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/Grantham     

Predict/MutationTaster     

Predict/PolyPhen     

Predict/PolyPhenScore     

Predict/SIFT     

Predicted     

Type/DNA     

Conservation     

CpG     

Enzyme activity     

mRNA level     

Predict/CADD     

Predict/Splice     

Legacy protein change     

Protein level     
4 Parent #1 +/. - pathogenic g.52904416_52904447dup g.52038250_52038281dup -22_10dup - SGCB_000031 - PubMed: Boito - - Germline - - - - - Johan den Dunnen SGCB - - - - 1 NM_000232.4:c.-10_22dup - r.-22_10dup p.(Ala8Glyfs*22)? - - - - - - - - - - - - - - - - - - -
4 Parent #2 +/. - pathogenic g.52904416_52904447dup g.52038250_52038281dup -22_10dup - SGCB_000031 - PubMed: Boito - - Germline - - - - - Johan den Dunnen SGCB - - - - 1 NM_000232.4:c.-10_22dup - r.-22_10dup p.(Ala8Glyfs*22)? - - - - - - - - - - - - - - - - - - -
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