Genomic variant #0000235502

Individual ID 00143817
Chromosome 9
Allele Both (homozygous)
Affects function (as reported) Affects function
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.113431224dup
DNA change (hg38) g.110668944dupA
Published as -
ISCN -
DB-ID MUSK_000011
Variant remarks whole exome sequencing, no NMD; parents share 4.0 Mb haplotype
Reference PubMed: Wilbe 2015, Journal: Wilbe 2015
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (large NGS studies) Variant not found in online data sets
Owner Johan den Dunnen




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
MUSK NM_005592.3 +/. 1 c.40dup - r.40dup p.Thr14Asnfs*9



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000144676 DNA SEQ;SEQ-NG - - MUSK 1 Johan den Dunnen