Genomic variant #0000148343

Individual ID 00090111
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.58051236A>C
DNA change (hg38) g.58017332A>C
Published as -
ISCN -
DB-ID USB1_000001 See all 7 reported entries
Variant remarks -
Reference PubMed: Farruggia et al. 2014
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 Elisa Adele Colombo




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
USB1 NM_024598.3 +?/+? 4i c.504-2A>C - r.spl? p.?



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000090256 DNA PCR;SEQ blood - USB1 1 Elisa Adele Colombo