Individual #00132016

ID_report -
Reference -
Remarks -
Gender M
Consanguinity -
Country United States
Population -
Age/Death -
VIP 0
Data_av -
Treatment -
Panel size 1
Diseases MD, MDC
Owner name Angela Gruber


Phenotypes

dystrophy, muscular, congenital (MDC) (MDC)   Add phenotype for this disease

AscendingPhenotype ID     

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Protein     

Owner     
0000125443 Muscle weakness (HP:0001324) Unknown - - - - MDC-1A dystrophy, muscular, LAMA2-related, late onset muscle, IHC for LAMA2, partial deficiency Angela Gruber



Screenings


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Variants found     

Owner     
0000132855 DNA SEQ - - LAMA2 1 Angela Gruber



Variants

1 entry on 1 page. Showing entry 1.
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Chr     

Allele     

Effect     

AscendingDNA change (genomic) (hg19)     

DNA change (hg38)     

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ISCN     

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Exon_old     

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Protein level     
6 Both (homozygous) +?/. g.129766967G>T g.129445822G>T - - LAMA2_000242 - - - - Germline - - - 0 - Angela Gruber LAMA2 - - - - - 45i NM_000426.3:c.6429+1G>T - - r.spl? p.? - - - - - - - - - - - - - - - - - - -
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