Individual #00078819

ID_report -
Reference PubMed: Wahbi 2012
Remarks -
Gender M
Consanguinity -
Country France
Population -
Age/Death -
VIP 0
Data_av -
Treatment -
Panel size 1
Diseases dystrophy, muscular, Miyoshi, type 3
Owner name Johan den Dunnen


Phenotypes

dystrophy, muscular, Miyoshi, type 3 (-)   Add phenotype for this disease

AscendingPhenotype ID     

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Protein     

Owner     
0000058578 ECG left ventricular hypertrophy; raised CPK (HP:0003236) 1433; >30y walking (-HP:0006957) - - Unknown - - 26y - - Johan den Dunnen



Screenings


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Variants found     

Owner     
0000079007 DNA SEQ - - ANO5 2 Johan den Dunnen



Variants

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

Allele     

Effect     

AscendingDNA change (genomic) (hg19)     

DNA change (hg38)     

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Protein level     
11 Parent #2 +/. g.22239825C>T g.22218279C>T - - ANO5_000039 not in 408 control chromosomes PubMed: Wahbi 2012 - - Germline - - - 0 - Johan den Dunnen ANO5 - - - - - 4 NM_213599.2:c.172C>T - - r.(?) p.(Arg58Trp) - - - - - - - - - - - - - - - - - - -
11 Parent #1 +/. g.22242653dupA g.22221107dupA - - ANO5_000004 - PubMed: Wahbi 2012 - - Germline - - - 0 - Johan den Dunnen ANO5 - - - - - 5 NM_213599.2:c.191dupA - - r.(?) p.(Asn64Lysfs*15) - - - - - - - - - - - - - - - - - - -
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