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     
?/. 13 c.1296C>T r.(?) p.(=) - VUS g.47062404C>T g.47203005C>T L432L - UBA1_000049 recurrent, found 2 times PubMed: Tarpey 2009 - - Germline - 2/208 cases - 0 - Lucy Raymond
-?/. - c.1296C>T r.(?) p.(Leu432=) - likely benign g.47062404C>T - UBA1(NM_003334.4):c.1296C>T (p.L432=) - UBA1_000049 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
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