Individual #00143832

ID_report -
Reference PubMed: Ben Ammar 2013, Journal: Ben Ammar 2013
Remarks 4-generation family, 1 affected, unaffected heterozygous carrier parents
Gender M
Consanguinity yes
Country Iran
Population -
Age/Death -
VIP 0
Data_av -
Treatment -
Panel size 1
Diseases ?
Owner name Johan den Dunnen


Phenotypes

unclassified / mixed (?)   Add phenotype for this disease

AscendingPhenotype ID     

Diagnosis/Initial     

Diagnosis/Definite     

Inheritance     

Age/Examination     

Age/Diagnosis     

Phenotype details     

Age/Onset     

Phenotype/Onset     

Protein     

Tumor/MSI     

Diagnosis/Criteria     

Owner     
0000116610 congenital myasthenic syndromes (CMS) CMS-9 Isolated (sporadic) - - see paper; congenital bilateral ptosis, slowly progressive muscle weakness, walk 14m, particularly lower limbs (observed since 4y); no sucking problems during infancy, ... - - - - - Johan den Dunnen



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000144691 DNA SEQ - - MUSK 1 Johan den Dunnen



Variants

1 entry on 1 page. Showing entry 1.
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Chr     

Allele     

Effect     

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     

Codon change     

IDbase Accession Number     

VariO/DNA     

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VariO/RNA     

Exon     

DNA change (cDNA)     

Haplotype     

ClassClinical     

RNA change     

Protein     

P-domain     

Exon_old     

DNA/Legacy     

Function/GVS     

Predict/AGVGD     

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Predict/MutationTaster     

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Predict/SIFT     

Predicted     

Type/DNA     

Conservation     

CpG     

Enzyme activity     

mRNA level     

Predict/CADD     

Predict/Splice     

Protein level     
9 Both (homozygous) +/. g.113563161A>G g.110800881A>G - - MUSK_000016 not in 400 control chromosomes PubMed: Ben Ammar 2013, Journal: Ben Ammar 2013 - - Germline - - - 0 - Johan den Dunnen MUSK - - - - - 15 NM_005592.3:c.2503A>G - - r.(?) p.(Met835Val) - - - - - - - - - - - - - - - - - - -
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