Individual #00214421

ID_report 07720071-M31
Reference PubMed: Richard 1995
Remarks -
Gender -
Consanguinity -
Country France
Population -
Age at death -
VIP 0
Data_av -
Treatment -
Panel size 1
Diseases LGMD
Owner name 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     
0000162873 - limb-girdle muscular dystrophy LGMD-2A Familial - - - - - Johan den Dunnen



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000215490 DNA HD;SEQ - - CAPN3 1 Johan den Dunnen



Variants

1 entry on 1 page. Showing entry 1.
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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     

Codon change     

IDbase Accession Number     

VariO/DNA     

VariO/Protein     

VariO/RNA     

Exon     

DNA change (cDNA)     

Haplotype     

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     

Legacy protein change     

Protein level     
15 Parent #1 -/. - benign g.42652099T>C g.42359901T>C - - CAPN3_000061 - PubMed: Richard 1995 - rs1801496 Germline - - HhaI-;AluI+ 0 - Johan den Dunnen CAPN3 - - - - - 1 NM_000070.2:c.96T>C - r.(?) p.(=) - - - - - - - - - - - - - - - - - - - -
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