Individual #00151452

ID_report ?
Reference PubMed: Puckett 2009
Remarks younger brother of 19342235.b; mother Japanese, father Caucasian
Gender M
Consanguinity no
Country Japan;United States
Population Asia;white
Age at death -
VIP -
Data_av -
Treatment -
Panel size 1
Diseases LGMD
Owner name Tom Winder
Database submission license No license selected
Created by Tom Winder


Phenotypes

dystrophy, muscular, limb-girdle (LGMD) (LGMD)   Add phenotype for this disease

AscendingPhenotype ID     

Phenotype details     

Diagnosis/Initial     

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Age/Diagnosis     

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Protein     

Owner     
0000123844 13m-failure to thrive, elevated transaminases, elevated CK; 21m-muscle weakness incipient pectus excavatum, modified GowersÂ’ maneuver, decreased deep tendon reflexes, cognitive/motor development normal, cardiac/ophthalmology evaluations normal; 2y-calf hypertrophy; CPK level 1865-12131 limb-girdle muscular dystrophy LGMD2M Isolated (sporadic) - - 9m growth delay IHC normal DMD, UTRN, SGC, LAMA2, mosaic DAG Tom Winder



Screenings


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Tissue     

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Variants found     

Owner     
0000152307 DNA SEQ - - FKTN 2 Tom Winder



Variants

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

Allele     

Effect     

Classification method     

Clinical classification     

AscendingDNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

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Reference     

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Protein     

P-domain     

Exon_old     

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Predicted     

Type/DNA     

Conservation     

CpG     

Enzyme activity     

mRNA level     

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Legacy protein change     

Protein level     
9 Paternal (confirmed) +/. - pathogenic g.108363600G>A g.105601319G>A - - FKTN_000022 - PubMed: Puckett 2009 - - Germline - - - - - Tom Winder FKTN - - - - 5 NM_001079802.1:c.340G>A - r.(?) p.(Ala114Thr) - - - - - - - - - - - - - - - - - - -
9 Maternal (confirmed) +/. - pathogenic g.108366653T>C g.105604372T>C - - FKTN_000023 not in 180 control chromosomes PubMed: Puckett 2009 - - Germline - - - - - Tom Winder FKTN - - - - 6 NM_001079802.1:c.527T>C - r.(?) p.(Phe176Ser) - - - - - - - - - - - - - - - - - - -
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