Individual #00143824

ID_report -
Reference -
Remarks -
Gender F
Consanguinity -
Country Italy
Population -
Age/Death -
VIP 0
Data_av -
Treatment -
Panel size 1
Diseases ?
Owner name Tom Winder


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     
0000116602 myasthenic syndrome, congenital (CMS) CMS-9 Familial, autosomal recessive - - - - - - - - Tom Winder



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000144683 DNA PCR;SEQ - - MUSK 2 Tom Winder



Variants

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

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 Paternal (confirmed) g.113457791del g.110695511delA - - MUSK_000008 - - - - Germline - - - 0 - Tom Winder MUSK +?/. - - - - - 4 NM_005592.3:c.467del - - r.(?) p.(Lys156Argfs*20) - - - - - - - - - - - - - - - - - - - - - - -
9 Maternal (confirmed) g.113563026G>A g.110800746G>A - - MUSK_000002 - - - - Germline - - - 0 - Tom Winder MUSK +/. - - - - - 15 NM_005592.3:c.2368G>A - - r.(?) p.(Val790Met) - - - - - - - - - - - - - - - - - - - - - - -
Legend