Screening #0000144677

Individual ID 00143818
Template DNA;RNA
Technique RT-PCR;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 (inferred) +/. g.? - - - MUSK_000013 deletion detected on RNA PubMed: Gallenmuler 2014, Journal: Gallenmuler 2014 - - Germline - - - 0 - Johan den Dunnen MUSK - - - - - 1i_3i NM_005592.3:c.(79+1_80-1)_(358+1_359-1)del - - r.80_358del p.Ala27_Lys120delinsGlu - - - - - - - - - - - - - - - - - - -
9 Maternal (confirmed) +/. g.113444988T>A g.110682708T>A - - MUSK_000012 - PubMed: Gallenmuler 2014, Journal: Gallenmuler 2014 - - Germline - - - 0 - Johan den Dunnen MUSK - - - - - 2 NM_005592.3:c.114T>A - - r.114u>a p.Asp38Glu - - - - - - - - - - - - - - - - - - -
Legend