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     
+/. 3i c.179+5G>A - r.110_179del p.Gln37Argfs*49 g.202304112C>T g.202334984C>T c.180+5G>A - UBE2T_000003 bone marrow fibroblasts have small fraction UBE2T-transcripts with skipped exon 2 PubMed: Hira 2015; Journal: Hira 2015, OMIM:var0002 - - Unknown yes - - 0 - Johan den Dunnen
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