Individual #00133433

ID_report -
Reference PubMed: Saillour 2008, PubMed: Trabelsi 2008
Remarks Pat17 in Trabelsi
Gender M
Consanguinity ?
Country (France)
Population -
Age/Death -
VIP 0
Data_av -
Treatment -
Panel size 1
Diseases LGMD-2
Owner name Human Genetics Diagnostic Laboratory - Cochin Hosp J Chelly, F Leturcq


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     
0000106180 dystrophy, muscular, limb-girdle, autosomal recessive, type 2 (LGMD-2) Isolated (sporadic) - - - - - - WB SGCA reduced, no SGCG Human Genetics Diagnostic Laboratory - Cochin Hosp J Chelly, F Leturcq



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000134270 DNA arrayCGH;PCRq - - SGCA 2 Human Genetics Diagnostic Laboratory - Cochin Hosp J Chelly, F Leturcq



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     
17 Parent #2 +/. g.48245014C>T g.50167653C>T - - SGCA_000003 - PubMed: Saillour 2008, PubMed: Trabelsi 2008 - - Germline - - - 0 - Human Genetics Diagnostic Laboratory - Cochin Hosp J Chelly, F Leturcq SGCA - - - - - 3 NM_000023.2:c.229C>T - - r.(?) p.(Arg77Cys) - - - - - - - - - - - - - - - - - - -
17 Parent #1 +/. g.(48246616_48247503)_(48248028_48252617)del - - - SGCA_000093 0.6-6 Kb deletion PubMed: Saillour 2008, PubMed: Trabelsi 2008 - - Germline - - - 0 - Human Genetics Diagnostic Laboratory - Cochin Hosp J Chelly, F Leturcq SGCA - - - - - 6i_8i NM_000023.2:c.(747+1_748-1)_(983+1_984-1)del - - r.748_983del p.Val250Hisfs*41 - - - - - - - - - - - - - - - - - - -
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