Individual #00214241

ID_report -
Reference PubMed: Fanin 2004, PubMed: Pizzanelli 2006
Remarks -
Gender F
Consanguinity -
Country China
Population -
Age at death -
VIP 0
Data_av -
Treatment -
Panel size 1
Diseases LGMD
Owner name Marina Fanin


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     
0000162693 mild, incl. seizure (treated with valproate); CPK elevated (HP:0003236) >3000 limb-girdle muscular dystrophy LGMD-2A Isolated (sporadic) - 14y 8y gait disturbance WB no CAPN3, IHC normal DMD, SGCA, DYSF Marina Fanin



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000215310 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.42652103del g.42359905del 100delG - CAPN3_000165 - PubMed: Fanin 2004, PubMed: Pizzanelli 2006 - - Germline - - - 0 - Marina Fanin CAPN3 - - - - - 1 NM_000070.2:c.100del - r.(?) p.(Ala34fs*23) - - - - - - - - - - - - - - - - - - - -
15 Parent #1 +/. - pathogenic g.42703106A>G g.42410908A>G - - CAPN3_000119 - PubMed: Fanin 2004, PubMed: Pizzanelli 2006 - - Germline - - - 0 - Marina Fanin CAPN3 - - - - - 22 NM_000070.2:c.2288A>G - r.(?) p.(Tyr763Cys) - - - - - - - - - - - - - - - - - - - -
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