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     
+?/+? 6 c.623A>G - r.? p.(His208Arg) Both (homozygous) g.58052889A>G g.58018985A>G - - USB1_000021 - PubMed: Walne et al. 2016 - - Germline yes - - 0 - DNA PCR, SEQ - - PN - PubMed: Walne 2016 - M yes Afghanistan - - 0 - - 1 Elisa Adele Colombo
+?/+? 6 c.623A>G - r.? p.(His208Arg) Both (homozygous) g.58052889A>G g.58018985A>G - - USB1_000021 - PubMed: Walne et al. 2016 - - Germline yes - - 0 - DNA PCR, SEQ - - PN - PubMed: Walne 2016 - F no Afghanistan - - 0 - - 1 Elisa Adele Colombo
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