Individual #00214154

ID_report -
Reference PubMed: Fanin 2004, PubMed: Nascimbeni 2010
Remarks -
Gender F
Consanguinity -
Country Italy
Population -
Age at death -
VIP -
Data_av -
Treatment -
Panel size 1
Diseases LGMD
Owner name Marina Fanin
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
Date created 2007-08-17 16:05:57 +02:00 (CEST)
Date last edited 2012-03-09 18:26:59 +01:00 (CET)


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     
0000162606 mild limb-girdle muscular dystrophy LGMD2A Isolated (sporadic) - - - - WB no CAPN3 Marina Fanin



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000215223 DNA;RNA DHPLC;RT-PCR;SEQ - - 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     

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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/MutationTaster     

Predict/SIFT     

Predicted     

Type/DNA     

CpG     

Enzyme activity     

mRNA level     

Predict-BioInf     

Legacy protein change     

Protein level     
15 Parent #1 +/. - pathogenic g.42691839G>A g.42399641G>A - - CAPN3_000096 - PubMed: Fanin 2004, PubMed: Nascimbeni 2010 - - Germline - - - - - Marina Fanin CAPN3 - - - - 10 NM_000070.2:c.1343G>A - r.1343g>a p.Arg448His - - - - - - - - - - - - - -
15 Parent #2 +/. - pathogenic g.42701579G>T g.42409381G>T - - CAPN3_000106 RNA muscle/blood; detectable using splice-specific PCR only; PubMed: Fanin 2004, PubMed: Nascimbeni 2010 - - Germline - - - - - Marina Fanin CAPN3 - - - - 17i NM_000070.2:c.1992+1G>T - r.[1915_1992del, 1992_1993ins1992+1_1992+31;1992+1g>u] p.[Pro639_Asp664del; p.Asp665Glu_fs*18] - - - - - - - - - - - - - -
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