Genomic variant #0000283751

Chromosome 9
Allele Unknown
Affects function (as reported) Probably affects function
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.113449410C>T
DNA change (hg38) -
Published as MUSK(NM_005592.3):c.220C>T (p.R74W)
ISCN -
DB-ID MUSK_000025
Variant remarks VKGL data sharing initiative Nederland
Reference -
ClinVar ID -
dbSNP ID -
Origin CLASSIFICATION record
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (large NGS studies) Variant not found in online data sets
Owner VKGL-NL




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
MUSK NM_005592.3 +?/. - c.220C>T likely pathogenic r.(?) p.(Arg74Trp)