All transcript variants in gene UBE2T

A Fanconi anemia mutation database.
Information The variants shown are described using the NM_014176.3 transcript reference sequence.

1 entry on 1 page. Showing entry 1.
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Effect     

Exon     

AscendingDNA change (cDNA)     

ClassClinical     

RNA change     

Protein     

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     
+/. 1i_6i c.110-280_468+264dup - r.-64_468dup p.(Ala157Cysfs*7?) g.202301874_202304466dup g.202332746_202335338dup - - UBE2T_000005 AluYa5 mediated duplication; nonsense mediated decay of mRNA, residual protein if any p.A157Cfs*7; allele also reported in Virts 2015 (PMID: 26085575) PubMed: Rickman 2015, Journal: Rickman 2015 - - Germline yes - - 0 - Francis Lach
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