Genomic variant #0000355083

Individual ID 00089060
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.58043901dupC
DNA change (hg38) g.58009997dupC
Published as -
ISCN -
DB-ID USB1_000022
Variant remarks -
Reference PubMed: Suter 2016
ClinVar ID -
dbSNP ID -
Origin Germline/De novo (untested)
Segregation -
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 ./. 3 c.334dupC - r.(?) p.(Arg112Profs*63)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000089205 DNA PCR;SEQ - - USB1 1 Elisa Adele Colombo