Individual #00064156

ID_report -
Reference PubMed: Lopes 2013, Journal: Lopes 2013
Remarks analysis of 223 cases
Gender -
Consanguinity -
Country United Kingdom (Great Britain)
Population -
Age/Death -
VIP 0
Data_av -
Treatment -
Panel size 1
Diseases CMH
Owner name Johan den Dunnen


Phenotypes

cardiomyopathy, hypertrophic (CMH) (CMH)   Add phenotype for this disease

AscendingPhenotype ID     

Phenotype details     

Diagnosis/Initial     

Diagnosis/Definite     

Inheritance     

Age/Examination     

Age/Diagnosis     

Age/Onset     

Phenotype/Onset     

Protein     

Owner     
0000050672 - - - Unknown - - - - - Johan den Dunnen



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000064289 DNA SEQ - - TTN 2 Johan den Dunnen



Variants

2 entries on 1 page. Showing entries 1 - 2.
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Chr     

Allele     

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     

Effect     

Codon change     

IDbase Accession Number     

VariO/DNA     

VariO/Protein     

VariO/RNA     

Exon     

DNA change (cDNA)     

Haplotype     

ClassClinical     

RNA change     

Protein     

P-domain     

Exon_old     

DNA/Legacy     

Function/GVS     

Protein/Legacy     

CodonNr     

Method     

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     

Protein/Stain     

Protein level     
2 Unknown g.179408096C>A g.178543369C>A NM_003319:c.G69409T - TTN_000917 - PubMed: Lopes 2013, Journal: Lopes 2013 - - Germline - 1/223 cases HCM - 0 - Johan den Dunnen TTN ?/. - - - - - 348 NM_001267550.1:c.96604G>T - - r.(?) p.(Val32202Leu) - - - - - - - - - - - - - - - - - - - - - - -
3 Unknown g.46900986G>A g.46859496G>A NM_000258:c.C460T - MYL3_000020 - PubMed: Lopes 2013, Journal: Lopes 2013 - - Germline - 1/223 cases HCM - 0 - Johan den Dunnen MYL3 ?/. - - - - - - NM_000258.2:c.460C>T - - r.(?) p.(Arg154Cys) - - - - - - - - - - - - - - - - - - - - - - -
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