Screening #0000144687

Individual ID 00143828
Template DNA
Technique SEQ
Tissue -
Remarks -
Variants found? 1
Owner name Johan den Dunnen


Genes screened


AscendingSymbol     

Gene     

Chr     

Band

Transcripts     

Variants     

Unique variants     

Last updated     

Associated with diseases
MUSK muscle, skeletal, receptor tyrosine kinase 9 q31.3-q32 1 54 37 2018-11-09 CMS-9, FADS



Variants found

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 - - MUSK_000010 homozygosity mapping PubMed: Tan Sindhunata 2015, Journal: Tan Sindhunata 2015 - - Germline - - - 0 - Johan den Dunnen MUSK - - - - - 13 NM_005592.3:c.1724T>C - - r.(?) p.(Ile575Thr) - - - - - - - - - - - - - - - - - - -
Legend