Individual #00210293

ID_report Fam3
Reference PubMed: Olive 2005
Remarks 2 brothers
Gender M
Consanguinity -
Country Spain
Population -
Age at death >81y (later than 81 years)
VIP -
Data_av -
Treatment -
Panel size 2
Diseases MFM
Owner name Johan den Dunnen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen


Phenotypes

myopathy, myofibrillar (MFM) (MFM)   Add phenotype for this disease

AscendingPhenotype ID     

Phenotype details     

Diagnosis/Initial     

Diagnosis/Definite     

Inheritance     

Age/Examination     

Age/Onset     

Phenotype/Onset     

Protein     

Owner     
0000158859 no raised CPK level (-HP:0003236) normal / ? myofibrillar myopathy MFM-3 Familial - 65y - - Johan den Dunnen



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000211369 DNA SEQ - - MYOT 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     

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     
5 Parent #1 +/. - pathogenic (dominant) g.137206519C>G g.137870830C>G - - MYOT_000007 - PubMed: Olive 2005 - - Germline - - - - - Johan den Dunnen MYOT - - - - 2 NM_006790.2:c.179C>G - r.(?) p.(Ser60Cys) - - - - - - - - - - - - - -
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