Individual #00133626

ID_report -
Reference PubMed: Klinge 2008
Remarks -
Gender -
Consanguinity -
Country (United Kingdom (Great Britain))
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     
0000106373 severe, no cardiac involvement; no respiratory involvement; no skeletal deformity; 15y-inable to walk (HP:0002540); 4640 elevated CPK (HP:0003236) dystrophy, muscular, limb-girdle (LGMD) LGMD2E Unknown - - 1y6m - WB SGCA severely reduced, SGCG absent, DAG1 reduced, DMD slightly reduced Johan den Dunnen



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000134463 DNA SEQ - - 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     

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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 #2 +/. - pathogenic g.52895932G>A g.52029766G>A - - SGCB_000012 - PubMed: Klinge 2008 - - Germline - - - - - Johan den Dunnen SGCB - - - - 3 NM_000232.4:c.341C>T - r.(?) p.(Ser114Phe) - - - - - - - - - - - - - - - - - - -
4 Parent #1 +/. - pathogenic g.52904424_52904425del g.52038258_52038259del - - SGCB_000059 - PubMed: Klinge 2008 - - Germline - - - - - Johan den Dunnen SGCB - - - - 1 NM_000232.4:c.1_2del - r.(?) p.(0?) - - - - - - - - - - - - - - - - - - -
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