Individual #00053148

ID_report -
Reference PubMed: Brodehl 2013
Remarks 4-generation family, 15 affecteds
Gender -
Consanguinity no
Country United States
Population -
Age at death -
VIP -
Data_av -
Treatment -
Panel size 15
Diseases CM
Owner name Andreas Brodehl
Database submission license No license selected
Created by Andreas Brodehl
Date created 2014-01-25 05:10:29 +01:00 (CET)
Date last edited 2014-01-25 13:12:18 +01:00 (CET)


Phenotypes

cardiomyopathy (CM) (CM)   Add phenotype for this disease

AscendingPhenotype ID     

Phenotype details     

Diagnosis/Initial     

Diagnosis/Definite     

Inheritance     

Age/Examination     

Age/Diagnosis     

Age/Onset     

Phenotype/Onset     

Protein     

Owner     
0000039850 - - - Familial, autosomal dominant - - - - - Andreas Brodehl



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000053095 DNA SEQ - - DES 1 Andreas Brodehl



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     

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Reference     

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VIP     

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Owner     

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IDbase Accession Number     

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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     
2 Paternal (inferred) +/. - likely pathogenic g.220283543C>A g.219418821C>A - - DES_000069 not in 788 control chromosomes; carries PKP2:c.1577C>T (T526M); ventricular tissue slices reveal loss of desmin staining within the intercalated disk and severe cytoplasmic aggregate formation, z-band localization not affected PubMed: Brodehl 2013 - - Germline yes - - - - Andreas Brodehl DES - - - - 1 NM_001927.3:c.359C>A - r.(?) p.(Ala120Asp) - - - - - - - - - - - - - -
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