Individual #00204188

ID_report -
Reference -
Remarks -
Gender M
Consanguinity no
Country Spain
Population -
Age/Death >50y (later than 50 years)
VIP 0
Data_av -
Treatment 3,4-diaminopyridine and ephedrine
Panel size 1
Diseases CMS
Owner name Fernando Ostos


Phenotypes

syndrome, myasthenic, congenital (CMS) (CMS)   Add phenotype for this disease

AscendingPhenotype ID     

Phenotype details     

Diagnosis/Initial     

Diagnosis/Definite     

Inheritance     

Age/Examination     

Age/Diagnosis     

Age/Onset     

Phenotype/Onset     

Protein     

Owner     
0000152866 Congenital ophthalmoplegia and late-onset limb weakness congenital myasthenic syndrome CMS9 Unknown 51y 51y - External ophtalmoplegia - Fernando Ostos



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000205217 DNA SEQ-NG-I - - AGRN, CHAT, CHRNA1, CHRNB1, CHRND, CHRNE, CHRNG, COLQ, DOK7, GFPT1, MUSK, RAPSN, SCN4A 1 Fernando Ostos



Variants

1 entry on 1 page. Showing entry 1.
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Chr     

Allele     

AscendingDNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Owner     

Gene     

Effect     

Codon change     

IDbase Accession Number     

VariO/DNA     

VariO/Protein     

VariO/RNA     

Exon     

DNA change (cDNA)     

Haplotype     

ClassClinical     

RNA change     

Protein     

P-domain     

Exon_old     

DNA/Legacy     

Function/GVS     

Predict/AGVGD     

Predict/Grantham     

Predict/MutationTaster     

Predict/PolyPhen     

Predict/PolyPhenScore     

Predict/SIFT     

Predicted     

Type/DNA     

Conservation     

CpG     

Enzyme activity     

mRNA level     

Predict/CADD     

Predict/Splice     

Protein level     
9 Unknown g.113449441T>C - - - MUSK_000033 - - - - Germline/De novo (untested) ? - - 0 - Fernando Ostos MUSK ?/. - - - - - 3 NM_005592.3:c.251T>C - - r.(?) p.(Leu84Pro) - - - - - - - - - - - - - - - - - - -
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