Genomic variant #0000088215

Individual ID 00057926
Chromosome 16
Allele Paternal (confirmed)
Affects function (as reported) Affects function
Affects function (by curator) Affects function
DNA change (genomic) (Relative to hg19 / GRCh37) g.58052949_58052960del
DNA change (hg38) g.58019045_58019056del
Published as NM_024598.2:c.666_676+1 del12 (D204_Q231del)
ISCN -
DB-ID USB1_000002
Variant remarks -
Reference PubMed: Volpi 2010
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation yes
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     
USB1 NM_024598.3 +/+ 6_6i c.683_693+1del - r.610_693del p.Asp204_Gln231del



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000057889 DNA;RNA PCR;RT-PCR;SEQ - - USB1 2 Johan den Dunnen