Genomic variant #0000063486

Individual ID 00036291
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.113457726G>A
DNA change (hg38) g.110695446G>A
Published as -
ISCN -
DB-ID MUSK_000005 See all 2 reported entries
Variant remarks -
Reference -
ClinVar ID -
dbSNP ID rs10980531
Origin Germline
Segregation -
Frequency frequency up to 0,31%
Re-site -
VIP 0
Methylation -
Average frequency (large NGS studies) 0.15448 View details
Owner Andreas Laner




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
MUSK NM_005592.3 -/. 4 c.402G>A - r.(=) p.(Glu144=)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000036361 DNA SEQ - - MUSK 1 Andreas Laner