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.334C>T r.(?) p.(Leu112Phe) - VUS g.47058765C>T - UBA1(NM_003334.4):c.334C>T (p.L112F) - UBA1_000066 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 4 c.334C>T r.(?) p.(Leu112Phe) - VUS g.47058765C>T g.47199366C>T - - UBA1_000066 - MDCRC 2021, submitted - - Germline/De novo (untested) - - - 0 - Lakshmi Bremadesam
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