Full data view for gene USB1

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

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

Remarks     

Disease     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age/Death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
+?/+? 5 c.541C>T - r.? p.(Gln181*) Both (homozygous) g.58051275C>T g.58017371C>T - - USB1_000020 - PubMed: Walne et al. 2010 - - Germline yes - - 0 - DNA PCR, SEQ - - PN - PubMed: Walne 2010 - F no ? (unknown) - - 0 - - 1 Elisa Adele Colombo
+?/+? 5 c.541C>T - r.? p.(Gln181*) Both (homozygous) g.58051275C>T g.58017371C>T - - USB1_000020 - PubMed: Clericuzio et al. 2011 - - Germline yes - - 0 - DNA PCR, SEQ - - PN - PubMed: Clericuzio 2011 - F ? (England) Turkish-British >04y 0 - patient received GCSF 1 Elisa Adele Colombo
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