All variants in the UBA1 gene

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

4 entries on 1 page. Showing entries 1 - 4.
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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.1702C>G r.(?) p.(Leu568Val) - likely benign g.47065473C>G g.47206074C>G UBA1(NM_003334.3):c.1702C>G (p.(Leu568Val)), UBA1(NM_003334.4):c.1702C>G (p.L568V) - UBA1_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
-/. - c.1702C>G r.(?) p.(Leu568Val) - benign g.47065473C>G g.47206074C>G UBA1(NM_003334.3):c.1702C>G (p.(Leu568Val)), UBA1(NM_003334.4):c.1702C>G (p.L568V) - UBA1_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-/. - c.1702C>G r.(?) p.(Leu568Val) - benign g.47065473C>G g.47206074C>G - - UBA1_000037 12 heterozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs150574055 Germline - 12/2794 individuals - 0 - Mohammed Faruq
-/. - c.1702C>G r.(?) p.(Leu568Val) - benign g.47065473C>G g.47206074C>G - - UBA1_000037 8 homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs150574055 Germline - 8/2794 individuals - 0 - Mohammed Faruq
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