All variants in the UBA1 gene

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

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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     
-?/. 6 c.488T>C c.(488u>c) p.(Val163Ala) - VUS g.47060300T>C g.47200901T>C - - UBA1_000050 - - - - Germline - - - 0 - Gerarda Cappuccio
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