Individual #00058424

ID_report -
Reference PubMed: Palmio 2014
Remarks 3-generation family, 2 affecteds
Gender -
Consanguinity no
Country Germany
Population -
Age/Death -
VIP 0
Data_av -
Treatment -
Panel size 2
Diseases HMERF
Owner name Claire Chauveau


Phenotypes

myopathy, hereditary with early respiratory failure (HMERF) (HMERF)   Add phenotype for this disease

AscendingPhenotype ID     

Phenotype details     

Diagnosis/Initial     

Diagnosis/Definite     

Inheritance     

Age/Examination     

Age/Diagnosis     

Age/Onset     

Phenotype/Onset     

Owner     
0000045055 hereditary myopathy with early respiratory failure - - Familial, autosomal dominant - - - - Claire Chauveau



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000058387 DNA SEQ;SEQ-NG - - TTN 1 Claire Chauveau



Variants

1 entry on 1 page. Showing entry 1.
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Chr     

Allele     

AscendingDNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

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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     

Published as     

RNA change     

Protein     

P-domain     

Exon_old     

DNA/Legacy     

Function/GVS     

Effect in vitro     

Protein/Legacy     

CodonNr     

Method     

Predict/AGVGD     

Predict/Grantham     

Predict/MutationTaster     

Predict/PolyPhen     

Predict/PolyPhenScore     

Predict/SIFT     

Predicted     

FunctionalAnalysis/Result     

FunctionalAnalysis/Technique     

Type/DNA     

Conservation     

CpG     

Enzyme activity     

FunctionalPrediction     

mRNA level     

Predict/CADD     

Predict/Splice     

Protein/Stain     

Protein level     
2 Unknown g.179410776C>G g.178546049C>G AJ277892:274428G>C (W30088C) - TTN_000564 - PubMed: Palmio 2014 - - Germline yes - - 0 - Claire Chauveau TTN +/. - - - - - 344 NM_001267550.1:c.95187G>C - - - r.(?) p.(Trp31729Cys) - - - - - - - - - - - - - - - - - - - - - - - - - - -
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