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.679-33C>G r.(=) p.(=) - VUS g.47060844C>G g.47201445C>G - - UBA1_000011 - - - - Germline - - - - - Yu Sun
?/. - c.679-33C>G r.(=) p.(=) - VUS g.47060844C>G g.47201445C>G - - UBA1_000011 - - - - Germline - - - - - Yu Sun
-/. - c.679-33C>G r.(=) p.(=) - benign g.47060844C>G g.47201445C>G - - UBA1_000011 - - - rs4239963 Germline - - - 0 - Andreas Laner
-?/. - c.679-33C>G r.(=) p.(=) - likely benign g.47060844C>G - UBA1(NM_003334.4):c.679-33C>G - UBA1_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
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