Individual #00214242

ID_report -
Reference PubMed: Fanin 2004 + PubMed: Piluso 2005
Remarks -
Gender M
Consanguinity -
Country Italy
Population -
Age at death -
VIP 0
Data_av -
Treatment -
Panel size 1
Diseases hCK
Owner name Marina Fanin


Phenotypes

hyperCKemia (hCK, elevated serum creatine phosphokinase) (hCK)   Add phenotype for this disease

AscendingPhenotype ID     

Phenotype details     

Diagnosis/Initial     

Diagnosis/Definite     

Inheritance     

Age/Examination     

Age/Diagnosis     

Age/Onset     

Phenotype/Onset     

Protein     

Owner     
0000162694 young, asymptomatic hCK;(LGMD) hCK Unknown - - - - WB no CAPN3 Marina Fanin



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000215311 DNA DHPLC - - CAPN3 2 Marina Fanin



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     

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 #2 +/. - pathogenic g.42652146G>A g.42359948G>A - - CAPN3_000201 - PubMed: Fanin 2004 + PubMed: Piluso 2005 - - Germline - - - 0 - Marina Fanin CAPN3 - - - - - 1 NM_000070.2:c.143G>A - r.(?) p.(Ser48Asn) - - - - - - - - - - - - - - - - - - - -
15 Parent #1 +/. - pathogenic g.42702843C>T g.42410645C>T - - CAPN3_000123 - PubMed: Fanin 2004 + PubMed: Piluso 2005 - - Germline - - - 0 - Marina Fanin CAPN3 - - - - - 21 NM_000070.2:c.2242C>T - r.(?) p.(Arg748*) - - - - - - - - - - - - - - - - - - - -
Legend