Individual #00143830

ID_report -
Reference PubMed: Maselli 2010, Journal: Maselli 2010
Remarks 2-generation family, patient and unaffected heterozygous carrier parents/sib
Gender F
Consanguinity no
Country United States
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     
0000116608 congenital myasthenic syndrome (CMS) CMS-9 Isolated (sporadic) - - see paper; severe congenital myasthenic syndrome - - - - - Johan den Dunnen



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000144689 DNA SEQ - - MUSK 2 Johan den Dunnen



Variants

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

Protein/Legacy     

CodonNr     

Method     

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/Stain     

Protein level     
9 Maternal (confirmed) g.113550006G>A g.110787726G>A M605I - MUSK_000015 - PubMed: Maselli 2010, Journal: Maselli 2010 - - Germline - - SfcI+ 0 - Johan den Dunnen MUSK +/. - - - - - 14 NM_005592.3:c.1815G>A - - r.(?) p.(Met605Ile) - - - - - - - - - - - - - - - - - - - - - - -
9 Paternal (confirmed) g.113562838C>T g.110800558C>T A727V - MUSK_000014 - PubMed: Maselli 2010, Journal: Maselli 2010 - - Germline - - - 0 - Johan den Dunnen MUSK +/. - - - - - 15 NM_005592.3:c.2180C>T - - r.(?) p.(Ala727Val) - - - - - - - - - - - - - - - - - - - - - - -
Legend