Genomic variant #0000063488

Individual ID 00036293
Chromosome 9
Allele Parent #1
Affects function (as reported) Does not affect function
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.113449415C>T
DNA change (hg38) g.110687135C>T
Published as -
ISCN -
DB-ID MUSK_000023
Variant remarks -
Reference -
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (large NGS studies) 0.02168 View details
Owner Andreas Laner




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
MUSK NM_005592.3 -/. 3 c.225C>T - r.(=) p.(Tyr75=)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000036363 DNA SEQ - - MUSK 1 Andreas Laner