Screening #0000089209

Individual ID 00089064
Template DNA
Technique PCR;SEQ
Tissue blood or EBV-transformed lymphoblastoid cell lines
Remarks -
Variants found? 2
Owner name Elisa Adele Colombo


Genes screened


AscendingSymbol     

Gene     

Chr     

Band

Transcripts     

Variants     

Unique variants     

Last updated     

Associated with diseases
USB1 U6 snRNA biogenesis 1 16 q13 1 49 29 2018-03-02 PN



Variants found

2 entries on 1 page. Showing entries 1 - 2.
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Chr     

Allele     

Effect     

AscendingDNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Owner     

Gene     

Codon change     

IDbase Accession Number     

VariO/DNA     

VariO/Protein     

VariO/RNA     

Exon     

DNA change (cDNA)     

Haplotype     

ClassClinical     

RNA change     

Protein     

P-domain     

Exon_old     

DNA/Legacy     

Function/GVS     

Predict/AGVGD     

Predict/Grantham     

Predict/MutationTaster     

Predict/PolyPhen     

Predict/PolyPhenScore     

Predict/SIFT     

Predicted     

Type/DNA     

Conservation     

CpG     

Enzyme activity     

mRNA level     

Predict/CADD     

Predict/Splice     

Protein level     
16 Unknown +?/+? g.58043982C>T g.58010078C>T - - USB1_000014 - PubMed: Clericuzio et al. 2011 - - Germline yes - - 0 - Elisa Adele Colombo USB1 - - - - - 3 NM_024598.3:c.415C>T - - r.? p.(Gln139*) - - - - - - - - - - - - - - - - - - -
16 Unknown +?/+? g.58052939C>T g.58019035C>T - - USB1_000015 - PubMed: Clericuzio et al. 2011 - - Germline yes - - 0 - Elisa Adele Colombo USB1 - - - - - 6 NM_024598.3:c.673C>T - - r.? p.(Gln225*) - - - - - - - - - - - - - - - - - - -
Legend