Full data view for gene USB1

Information The variants shown are described using the NM_024598.3 transcript reference sequence.

7 entries on 1 page. Showing entries 1 - 7.
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Effect     

Exon     

AscendingDNA change (cDNA)     

ClassClinical     

RNA change     

Protein     

Allele     

DNA 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     

Template     

Technique     

Tissue     

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Disease     

ID_report     

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Remarks     

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Consanguinity     

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Age/Death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
+/+ 4i c.504-2A>C - r.504_609del p.Thr169Ilefs*61 Paternal (confirmed) g.58051236A>C g.58017332A>C - - USB1_000001 - {PMID20004881:Volpi 2010}, PubMed: Concolino 2010, OMIM:var0001 - - Germline yes - - 0 - DNA, RNA PCR, RT-PCR, SEQ-NG-I - - PN - PubMed: Volpi 2010, PubMed: Concolino 2010 - M yes Italy Caucasian >25y 0 - - 2 Ludovica Volpi
+/+ 4i c.504-2A>C - r.(?) p.(Thr169Ilefs*61) Paternal (confirmed) g.58051236A>C g.58017332A>C - - USB1_000001 - {PMID20004881:Volpi 2010}, PubMed: Concolino 2010, OMIM:var0001 - - Germline yes - - 0 - DNA PCR, SEQ - - PN - PubMed: Volpi 2010, PubMed: Concolino 2010 - F yes Italy Caucasian >20y 0 - - 2 Ludovica Volpi
+/+ 4i c.504-2A>C - r.(?) p.(Thr169Ilefs*61) Paternal (confirmed) g.58051236A>C g.58017332A>C - - USB1_000001 - {PMID20004881:Volpi 2010}, PubMed: Concolino 2010, OMIM:var0001 - - Germline yes - - 0 - DNA PCR, SEQ - - PN - PubMed: Volpi 2010, PubMed: Concolino 2010 - F yes Italy Caucasian >18y 0 - - 2 Ludovica Volpi
+/+ 4i c.504-2A>C - r.504_609del p.Thr169Ilefs*61 Maternal (confirmed) g.58051236A>C g.58017332A>C - - USB1_000001 - {PMID20004881:Volpi 2010}, PubMed: Concolino 2010, OMIM:var0001 - - Germline yes - - 0 - DNA, RNA PCR, RT-PCR, SEQ-NG-I - - PN - PubMed: Volpi 2010, PubMed: Concolino 2010 - M yes Italy Caucasian >25y 0 - - 2 Ludovica Volpi
+/+ 4i c.504-2A>C - r.(?) p.(Thr169Ilefs*61) Maternal (confirmed) g.58051236A>C g.58017332A>C - - USB1_000001 - {PMID20004881:Volpi 2010}, PubMed: Concolino 2010, OMIM:var0001 - - Germline yes - - 0 - DNA PCR, SEQ - - PN - PubMed: Volpi 2010, PubMed: Concolino 2010 - F yes Italy Caucasian >20y 0 - - 2 Ludovica Volpi
+/+ 4i c.504-2A>C - r.(?) p.(Thr169Ilefs*61) Maternal (confirmed) g.58051236A>C g.58017332A>C - - USB1_000001 - {PMID20004881:Volpi 2010}, PubMed: Concolino 2010, OMIM:var0001 - - Germline yes - - 0 - DNA PCR, SEQ - - PN - PubMed: Volpi 2010, PubMed: Concolino 2010 - F yes Italy Caucasian >18y 0 - - 2 Ludovica Volpi
+?/+? 4i c.504-2A>C - r.spl? p.? Both (homozygous) g.58051236A>C g.58017332A>C - - USB1_000001 - PubMed: Farruggia et al. 2014 - - Germline yes - - 0 - DNA PCR, SEQ blood - PN - PubMed: Farruggia 2014 - F no Italy - >03y 0 - - 1 Elisa Adele Colombo
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