Full data view for gene USB1

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

4 entries on 1 page. Showing entries 1 - 4.
Legend  

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     

Remarks     

Disease     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age/Death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
+/+ 5 c.531delA - r.531delA p.His179Metfs*86 Paternal (confirmed) g.58051265delA g.58017361delA - - USB1_000007 - Colombo ASHG 2010 meeting, PubMed: Walne 2010 - - Germline yes - - 0 - DNA, RNA PCR, RT-PCR, SEQ - - PN - PubMed: Colombo 2012 - M yes Turkey Caucasian >11y 0 - - 1 Ludovica Volpi
+/+ 5 c.531delA - r.531delA p.His179Metfs*86 Paternal (confirmed) g.58051265delA g.58017361delA - - USB1_000007 - Colombo ASHG 2010 meeting PubMed: Colombo 2012, PubMed: Walne 2010 - - Germline yes - - 0 - DNA, RNA PCR, RT-PCR, SEQ - - PN - PubMed: Colombo 2012 his mother had a miscarriage and an elder affected sister (not tested) died during infancy M yes Turkey Caucasian >18y 0 - - 1 Ludovica Volpi
+/+ 5 c.531delA - r.531delA p.His179Metfs*86 Maternal (confirmed) g.58051265delA g.58017361delA - - USB1_000007 - Colombo ASHG 2010 meeting, PubMed: Walne 2010 - - Germline yes - - 0 - DNA, RNA PCR, RT-PCR, SEQ - - PN - PubMed: Colombo 2012 - M yes Turkey Caucasian >11y 0 - - 1 Ludovica Volpi
+/+ 5 c.531delA - r.531delA p.His179Metfs*86 Maternal (confirmed) g.58051265delA g.58017361delA - - USB1_000007 - PubMed: Colombo et al. 2012 - - Germline yes - - 0 - DNA, RNA PCR, RT-PCR, SEQ - - PN - PubMed: Colombo 2012 his mother had a miscarriage and an elder affected sister (not tested) died during infancy M yes Turkey Caucasian >18y 0 - - 1 Ludovica Volpi
Legend