Individual #00214993

ID_report -
Reference -
Remarks -
Gender F
Consanguinity -
Country -
Population -
Age at death -
VIP 0
Data_av -
Treatment -
Panel size 1
Diseases MD
Owner name Rosetta Marotta


Phenotypes

dystrophy, muscular (MD) (MD)   Add phenotype for this disease

AscendingPhenotype ID     

Phenotype details     

Diagnosis/Initial     

Diagnosis/Definite     

Inheritance     

Age/Examination     

Age/Diagnosis     

Age/Onset     

Phenotype/Onset     

Protein     

Owner     
0000163445 shoulder, hip girdle and neck flexion weakness; contractures, myalgia muscular dystrophy - Unknown - - - - WB no CAPN3 Rosetta Marotta



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000216062 DNA SEQ - - CAPN3 9 Rosetta Marotta



Variants

9 entries on 1 page. Showing entries 1 - 9.
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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     

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Predict/PolyPhenScore     

Predict/SIFT     

Predicted     

Type/DNA     

Conservation     

CpG     

Enzyme activity     

mRNA level     

Predict/CADD     

Predict/Splice     

Legacy protein change     

Protein level     
15 Unknown -?/. - likely benign g.42652099T>C g.42359901T>C - - CAPN3_000061 - - - rs1801496 Germline - - - 0 - Rosetta Marotta CAPN3 - - - - - 1 NM_000070.2:c.96T>C - r.(?) p.(=) - - - - - - - - - - - - - - - - - - - -
15 Unknown -?/. - likely benign g.42680058T>C g.42387860T>C - - CAPN3_000238 - - - rs17593 Germline - - - 0 - Rosetta Marotta CAPN3 - - - - - 4 NM_000070.2:c.606T>C - r.(?) p.(=) - - - - - - - - - - - - - - - - - - - -
15 Parent #1 +?/. - likely pathogenic g.42681199G>A g.42389001G>A - - CAPN3_000082 - - - rs1801449 Germline - - - 0 - Rosetta Marotta CAPN3 - - - - - 5 NM_000070.2:c.706G>A - r.(?) p.(Ala236Thr) - - - - - - - - - - - - - - - - - - - -
15 Parent #2 +?/. - likely pathogenic g.42681199G>A g.42389001G>A - - CAPN3_000082 - - - rs1801449 Germline - - - 0 - Rosetta Marotta CAPN3 - - - - - 5 NM_000070.2:c.706G>A - r.(?) p.(Ala236Thr) - - - - - - - - - - - - - - - - - - - -
15 Unknown -?/. - likely benign g.42688993A>G g.42396795A>G - - CAPN3_000503 - - - - Germline - - - 0 - Rosetta Marotta CAPN3 - - - - - 8i NM_000070.2:c.1116-5A>G - r.(spl?) p.(?) - - - - - - - - - - - - - - - - - - - -
15 Unknown -?/. - likely benign g.42691664C>G g.42399466C>G - - CAPN3_000087 - - - - Germline - - - 0 - Rosetta Marotta CAPN3 - - - - - 9i NM_000070.2:c.1194-26C>G - r.(?) p.(=) - - - - - - - - - - - - - - - - - - - -
15 Unknown -?/. - likely benign g.42703537T>C g.42411339T>C - - CAPN3_000504 - - - - Germline - - - 0 - Rosetta Marotta CAPN3 - - - - - 23 NM_000070.2:c.2433T>C - r.(?) p.(=) - - - - - - - - - - - - - - - - - - - -
15 Unknown -?/. - likely benign g.42703903A>T g.42411705A>T - - CAPN3_000505 - - - - Germline - - - 0 - Rosetta Marotta CAPN3 - - - - - 23i NM_000070.2:c.2440-42A>T - r.(?) p.(=) - - - - - - - - - - - - - - - - - - - -
15 Unknown -?/. - likely benign g.42704022T>A g.42411824T>A - - CAPN3_000502 - - - - Germline - - - 0 - Rosetta Marotta CAPN3 - - - - - 24 NM_000070.2:c.*51T>A - r.(?) p.(=) - - - - - - - - - - - - - - - - - - - -
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