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.811+9C>G r.(=) p.(=) - VUS g.47061018C>G g.47201619C>G - - UBA1_000014 - - - - Germline - - - - - Yu Sun
?/. - c.811+9C>G r.(=) p.(=) - VUS g.47061018C>G g.47201619C>G - - UBA1_000014 - - - - Germline - - - - - Yu Sun
-/. - c.811+9C>G r.(=) p.(=) - benign g.47061018C>G g.47201619C>G UBA1(NM_003334.4):c.811+9C>G - UBA1_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_AMC
-/. - c.811+9C>G r.(=) p.(=) - benign g.47061018C>G g.47201619C>G UBA1(NM_003334.4):c.811+9C>G - UBA1_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Groningen
-/. - c.811+9C>G r.(=) p.(=) - benign g.47061018C>G g.47201619C>G - - UBA1_000014 - - - rs4239964 Unknown ? 0.99 controls - 0 - Florian Erger
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