Genomic variant #0000090043

Individual ID 00059221
Chromosome 16
Allele Both (homozygous)
Affects function (as reported) Probably affects function
Affects function (by curator) Probably affects function
DNA change (genomic) (Relative to hg19 / GRCh37) g.58036463delC
DNA change (hg38) g.58002559delC
Published as -
ISCN -
DB-ID USB1_000004 See all 5 reported entries
Variant remarks -
Reference PubMed: Tanaka et al. 2010,PubMed: Walne et al. 2010
ClinVar ID -
dbSNP ID rs786205051
Origin Germline
Segregation yes
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (large NGS studies) Variant not found in online data sets
Owner Elisa Adele Colombo




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
USB1 NM_024598.3 +?/+? 2 c.179delC - r.? p.(Pro60Leufs*55)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000059207 DNA arraySNP;PCR;SEQ - - USB1 1 Elisa Adele Colombo