Full data view for gene UBE2NL

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

12 entries on 1 page. Showing entries 1 - 12.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Allele     

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     

Template     

Technique     

Tissue     

Remarks     

Disease     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age at death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
?/. - c.136T>G r.(?) p.(Ser46Ala) Unknown - VUS g.142967338T>G g.143884236T>G UBE2NL(NM_001012989.2):c.136T>G (p.S46A) - UBE2NL_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.241G>A r.(?) p.(Val81Ile) Unknown - likely benign g.142967443G>A g.143884341G>A UBE2NL(NM_001012989.2):c.241G>A (p.V81I) - UBE2NL_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.266T>G r.(?) p.(Leu89*) Maternal (inferred) - VUS g.142967468T>G g.143884366= - - UBE2NL_000004 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
?/. - c.266T>G r.(?) p.(Leu89*) Maternal (inferred) - VUS g.142967468T>G g.143884366= - - UBE2NL_000004 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
?/. - c.266T>G r.(?) p.(Leu89*) Parent #1 - VUS g.142967468T>G g.143884366= - - UBE2NL_000004 recurrent, found 117 times PubMed: Tarpey 2009 - - Germline - 117/208 cases - 0 - DNA SEQ - - MRX;IDX 19377476-Pat? PubMed: Tarpey 2009 - M - - - - 0 for details contact Lucy Raymond (flr24 @ cam.ac.uk) - 117 Lucy Raymond
-?/. - c.420A>G r.(=) p.(=) Parent #1 - likely benign g.142967622A>G g.143884520A>G T140T - UBE2NL_000002 found once, nonrecurrent change PubMed: Tarpey 2009 - - Germline - 1/208 cases - 0 - DNA SEQ - - MRX;IDX 19377476-Pat? PubMed: Tarpey 2009 - M - - - - 0 for details contact Lucy Raymond (flr24 @ cam.ac.uk) - 1 Lucy Raymond
?/. - c.*343_*347del r.(=) p.(=) Maternal (inferred) - VUS g.142968007_142968011del g.143884905_143884909del - - UBE2NL_000011 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
?/. - c.*343_*347del r.(=) p.(=) Maternal (inferred) - VUS g.142968007_142968011del g.143884905_143884909del - - UBE2NL_000011 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
?/. - c.*352_*356del r.(=) p.(=) Maternal (inferred) - VUS g.142968016_142968020del - - - UBE2NL_000009 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
?/. - c.*352_*356del r.(=) p.(=) Maternal (inferred) - VUS g.142968016_142968020del - - - UBE2NL_000009 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
?/. - c.*418A>C r.(=) p.(=) Maternal (inferred) - VUS g.142968082A>C g.143884975= - - UBE2NL_000001 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
?/. - c.*418A>C r.(=) p.(=) Maternal (inferred) - VUS g.142968082A>C g.143884975= - - UBE2NL_000001 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
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