Full data view for gene USB1

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

3 entries on 1 page. Showing entries 1 - 3.
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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     

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Consanguinity     

Country     

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Age/Death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
+?/+? 2 c.243G>A - r.? p.(Trp81*) Both (homozygous) g.58036527G>A g.58002623G>A - - USB1_000010 ClinVar-156347 PubMed: Arnold et al. 2010 - rs137853973 Germline yes - - 0 - DNA PCR, SEQ blood - PN - PubMed: Arnold 2010 The patient has an affected cousin, not molecularly tested. The mothers of the two cousins are sisters and the fathers are cousins. M ? - (not applicable) european mediterranean area in Montenegro >04y 0 - - 1 Elisa Adele Colombo
+?/+? 2 c.243G>A - r.? p.(Trp81*) Maternal (confirmed) g.58036527G>A g.58002623G>A - - USB1_000010 - PubMed: Piard et al. 2012 - - Germline yes - - 0 - DNA PCR, SEQ blood - PN - PubMed: Piard 2012 - F no ? (unknown) - >04y 0 - - 1 Elisa Adele Colombo
+/. - c.243G>A pathogenic r.(?) p.(Trp81*) Unknown g.58036527G>A - USB1(NM_024598.3):c.243G>A (p.(Trp81*)) - USB1_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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