Screening #0000144681

Individual ID 00143822
Template DNA
Technique SEQ
Tissue -
Remarks -
Variants found? 2
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

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

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 Paternal (confirmed) +/. g.113449410dup g.110687130dup 220insC - MUSK_000001 no variants CHRNE, RAPSN; not in 200 control chromosomes PubMed: Chevessier 2004, OMIM:var0002 - - Germline - - - 0 - Johan den Dunnen MUSK - - - - - 3 NM_005592.3:c.220dup - - r.(?) p.(fs*) - - - - - - - - - - - - - - - - - - -
9 Maternal (confirmed) +/. g.113563026G>A g.110800746G>A - - MUSK_000002 no variants CHRNE, RAPSN; not in 200 control chromosomes PubMed: Chevessier 2004, OMIM:var0001 - - Germline - - - 0 - Johan den Dunnen MUSK - - - - - 15 NM_005592.3:c.2368G>A - - r.(?) p.(Val790Met) - - - - - - - - - - - - - - - - - - -
Legend