All variants in the UBA1 gene

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

5 entries on 1 page. Showing entries 1 - 5.
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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.1340G>A r.(?) p.(Arg447His) - VUS g.47062534G>A g.47203135G>A - - UBA1_000003 - - - - Germline - - - - - Yu Sun
?/. - c.1340G>A r.(?) p.(Arg447His) - VUS g.47062534G>A g.47203135G>A - - UBA1_000003 - - - - Germline - - - - - Yu Sun
-/. - c.1340G>A r.(?) p.(Arg447His) - benign g.47062534G>A g.47203135G>A - - UBA1_000003 - - - rs2070169 Germline - - - 0 - Andreas Laner
-/. - c.1340G>A r.(?) p.(Arg447His) - benign g.47062534G>A g.47203135G>A UBA1(NM_003334.4):c.1340G>A (p.R447H) - UBA1_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_AMC
-/. - c.1340G>A r.(?) p.(Arg447His) - benign g.47062534G>A g.47203135G>A - - UBA1_000003 - - - rs2070169 Unknown ? 0.1 controls - 0 - Florian Erger
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