Individual #00058448

ID_report -
Reference PubMed: Palmio 2014
Remarks 2-generation family, 2 affecteds (F, M)
Gender -
Consanguinity no
Country France
Population Portugese
Age/Death -
VIP 0
Data_av -
Treatment -
Panel size 2
Diseases HMERF
Owner name Johan den Dunnen


Phenotypes

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

AscendingPhenotype ID     

Phenotype details     

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Phenotype/Onset     

Owner     
0000045079 hereditary myopathy with early respiratory failure - - Isolated (sporadic) - - - - Johan den Dunnen



Screenings


AscendingScreening ID     

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Genes screened     

Variants found     

Owner     
0000058411 DNA SEQ;SEQ-NG - - TTN 1 Johan den Dunnen



Variants

1 entry on 1 page. Showing entry 1.
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Chr     

Allele     

AscendingDNA change (genomic) (hg19)     

DNA change (hg38)     

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ISCN     

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ClassClinical     

Published as     

RNA change     

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CpG     

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mRNA level     

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Protein/Stain     

Protein level     
2 Parent #1 g.179410768G>A g.178546041G>A AJ277892:274436C>T (P30091L) - TTN_000559 - PubMed: Palmio 2014 - - Germline yes - - 0 - Johan den Dunnen TTN +/. - - - - - 344 NM_001267550.1:c.95195C>T - - - r.(?) p.(Pro31732Leu) - - - - - - - - - - - - - - - - - - - - - - - - - - -
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