Full data view for gene UBE2T

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

6 entries on 1 page. Showing entries 1 - 6.
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Effect     

Exon     

AscendingDNA change (cDNA)     

ClassClinical     

RNA change     

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DNA change (genomic) (hg19)     

DNA change (hg38)     

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Disease     

ID_report     

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+/. 1i_7_ c.-65+1253_*12383del - r.0? p.0? Paternal (confirmed) g.202288580_202309770del g.202319452_202340642del - - UBE2T_000002 23 kb deletion merging LRG6 and UBE2T (opposite sense) PubMed: Hira 2015; Journal: Hira 2015 - - Germline yes - - 0 - DNA arrayCGH, SEQ, SEQ-NG - - FANCT - PubMed: Hira 2015; Journal: Hira 2015 2-generation family, 1 affected, unaffected heterozygous carrier parents F no Japan - >25y 0 - - 1 Johan den Dunnen
+/. 2 c.4C>G - r.(?) p.(Gln2Glu) Maternal (confirmed) g.202304879G>C g.202335751G>C - - UBE2T_000001 - PubMed: Hira 2015; Journal: Hira 2015, OMIM:var0001 - - Germline yes - - 0 - DNA arrayCGH, SEQ, SEQ-NG - - FANCT - PubMed: Hira 2015; Journal: Hira 2015 2-generation family, 1 affected, unaffected heterozygous carrier parents F no Japan - >25y 0 - - 1 Johan den Dunnen
+/. 2 c.4C>G - r.(?) p.(Gln2Glu) Parent #1 g.202304879G>C g.202335751G>C - - UBE2T_000001 - PubMed: Hira 2015; Journal: Hira 2015, OMIM:var0001 - - Germline yes - - 0 - DNA SEQ, SEQ-NG - - FANCT - PubMed: Hira 2015; Journal: Hira 2015 2-generation family, 1 affected, unaffected heterozygous carrier parents M no Japan - 08y 0 - - 1 Johan den Dunnen
+/. 1i_6i c.110-280_468+264del - r.-64_468del p.0? Paternal (confirmed) g.202301874_202304466del g.202332746_202335338del - - UBE2T_000004 AluYa5 mediated deletion; allele also reported in Virts 2015 (PMID:26085575); no detectable UBE2T protein PubMed: Rickman 2015, Journal: Rickman 2015 - - Germline yes - - 0 - DNA RT-PCR, SEQ, SEQ-NG - - FANCT - PubMed: Rickman 2015, Journal: Rickman 2015 2-generation family, 1 affected, unaffected heterozygous carrier parents M no ? (unknown) - - 0 - - 1 Francis Lach
+/. 1i_6i c.110-280_468+264dup - r.-64_468dup p.(Ala157Cysfs*7?) Maternal (confirmed) 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 - DNA RT-PCR, SEQ, SEQ-NG - - FANCT - PubMed: Rickman 2015, Journal: Rickman 2015 2-generation family, 1 affected, unaffected heterozygous carrier parents M no ? (unknown) - - 0 - - 1 Francis Lach
+/. 3i c.179+5G>A - r.110_179del p.Gln37Argfs*49 Parent #2 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 - DNA SEQ, SEQ-NG - - FANCT - PubMed: Hira 2015; Journal: Hira 2015 2-generation family, 1 affected, unaffected heterozygous carrier parents M no Japan - 08y 0 - - 1 Johan den Dunnen
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