All variants in the UBA1 gene

Information The variants shown are described using the NM_003334.3 transcript reference sequence.

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

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Classification method     

Clinical classification     

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     

Owner     
+/. - c.1731C>T r.(=) p.(=) - pathogenic g.47065502C>T g.47206103C>T - - UBA1_000026 - - - - Germline - - - 0 - Andreas Laner
+?/. - c.1731C>T r.(=) p.(=) - likely pathogenic g.47065502C>T g.47206103C>T - - UBA1_000026 - - - - Somatic - - - 0 - Alfons Meindl
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