Genomic variant #0000235524

Individual ID 00143832
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.113563161A>G
DNA change (hg38) g.110800881A>G
Published as -
ISCN -
DB-ID MUSK_000016
Variant remarks not in 400 control chromosomes
Reference PubMed: Ben Ammar 2013, Journal: Ben Ammar 2013
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 +/. 15 c.2503A>G - r.(?) p.(Met835Val)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000144691 DNA SEQ - - MUSK 1 Johan den Dunnen