Individual #00143829

ID_report -
Reference -
Remarks -
Gender -
Consanguinity yes
Country Netherlands
Population Dutch
Age/Death -
VIP 0
Data_av -
Treatment -
Panel size 1
Diseases ?
Owner name Janneke Weiss


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     
0000116607 akinesia, fetal, deformation sequence (FADS) FADS Familial, autosomal recessive - - fetal akinesia - - - - - Janneke Weiss



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000144688 DNA SEQ - - MUSK 1 Janneke Weiss



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     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Owner     

Gene     

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 Both (homozygous) +/. g.113547944T>C g.110785664T>C g.113547944T>C - MUSK_000010 - PubMed: Tan Sindhunata 2015, Journal: Tan Sindhunata 2015 - - Germline - - - 0 - Janneke Weiss MUSK - - - - - 14 NM_005592.3:c.1724T>C - - r.(?) p.(Ile575Thr) - - - - - - - - - - - - - - - - - - -
Legend