Individual #00072213

ID_report 19879535 D-II-5
Reference PubMed: van Tintelen 2009, Journal: van Tintelen 2009
Remarks -
Gender M
Consanguinity -
Country -
Population -
Age at death >63y (later than 63 years)
VIP -
Data_av -
Treatment -
Panel size 1
Diseases ?
Owner name Pieter Klap
Database submission license No license selected
Created by Pieter Klap
Date created 2016-06-01 09:11:38 +02:00 (CEST)
Date last edited 2019-03-15 16:25:32 +01:00 (CET)


Phenotypes

unclassified / mixed (?)   Add phenotype for this disease

AscendingPhenotype ID     

Diagnosis/Initial     

Diagnosis/Definite     

Phenotype details     

Inheritance     

Age/Examination     

Age/Diagnosis     

Age/Onset     

Phenotype/Onset     

Protein     

Tumor/MSI     

Diagnosis/Criteria     

Owner     
0000051918 myopathy myopathy, myofibrillar, type 1 (MFM-1) Arrhythmia (HP:0011675), premature ventricular beat (HP:0004308), left anterior fascicular hemiblock (HP:0011711), Right bundle branch block (HP:0011712), atrial fibrillation (HP:0005110), first degree atrioventricular block (HP:0011705), Palpitations (HP:0001962), dilated cardiomyopathy (HP:0001644), Muscular weakness (HP:0001324), limb-girdle muscular dystrophy (HP:0006785), elevate serum creatine phosphokinase (HP:0003236), muscular dystrophy (HP:0003560), implantable cardioverter-defibrillator, coronary artery disease (HP:0001677) Familial, autosomal dominant - - 30y Arrhythmia (HP:0011675), premature ventricular beat (HP:0004308) - - - Pieter Klap



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000072368 DNA PCR;SEQ - - DES 1 Pieter Klap



Variants

1 entry on 1 page. Showing entry 1.
Legend   How to query  

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     
2 Unknown +/. - pathogenic (dominant) g.220283222C>T g.219418500C>T - - DES_000017 Absent in 300 ethnically matched control alleles PubMed: van Tintelen 2009, Journal: van Tintelen 2009 - - Germline - - - - - Pieter Klap DES - - - - 1 NM_001927.3:c.38C>T - r.(?) p.(Ser13Phe) - - - - - - - - - - - - - -
Legend   How to query  


Screenscraping/webscraping (downloading large amounts of data using scripts) is strictly prohibited.
Use our APIs to retrieve data.