Genomic variant #0000235525

Chromosome 9
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.113449410dup
DNA change (hg38) g.110687130dup
Published as -
ISCN -
DB-ID MUSK_000001 See all 3 reported entries
Variant remarks expression cloning in rat MUSK; absence MUSK expression
Reference PubMed: Chevessier 2004, OMIM:var0002
ClinVar ID -
dbSNP ID -
Origin In vitro (cloned)
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 +/. 3 c.(220dup) - r.(?) p.(fs*)