All transcript variants in gene UBE2NL

Information The variants shown are described using the NM_001012989.1 transcript reference sequence.

11 entries on 1 page. Showing entries 1 - 11.
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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     
?/. - c.136T>G VUS r.(?) p.(Ser46Ala) g.142967338T>G - UBE2NL(NM_001012989.2):c.136T>G (p.S46A) - UBE2NL_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
?/. - c.266T>G - - p.(Leu89*) g.142967468T>G - - - UBE2NL_000004 - - - - Germline - - - - - Yu Sun
?/. - c.266T>G - - p.(Leu89*) g.142967468T>G - - - UBE2NL_000004 - - - - Germline - - - - - Yu Sun
?/. - c.266T>G - r.(?) p.(Leu89*) g.142967468T>G - - - UBE2NL_000004 recurrent, found 117 times PubMed: Tarpey 2009 - - Germline - 117/208 cases - 0 - Lucy Raymond
-?/. - c.420A>G - r.(=) p.(=) g.142967622A>G - T140T - UBE2NL_000002 found once, nonrecurrent change PubMed: Tarpey 2009 - - Germline - 1/208 cases - 0 - Lucy Raymond
?/. - c.*343_*347del - - p.(=) g.142968007_142968011del - - - UBE2NL_000011 - - - - Germline - - - - - Yu Sun
?/. - c.*343_*347del - - p.(=) g.142968007_142968011del - - - UBE2NL_000011 - - - - Germline - - - - - Yu Sun
?/. - c.*352_*356del - - p.(=) g.142968016_142968020del - - - UBE2NL_000009 - - - - Germline - - - - - Yu Sun
?/. - c.*352_*356del - - p.(=) g.142968016_142968020del - - - UBE2NL_000009 - - - - Germline - - - - - Yu Sun
?/. - c.*418A>C - - p.(=) g.142968082A>C - - - UBE2NL_000001 - - - - Germline - - - - - Yu Sun
?/. - c.*418A>C - - p.(=) g.142968082A>C - - - UBE2NL_000001 - - - - Germline - - - - - Yu Sun
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