Full data view for gene USP51

Information The variants shown are described using the NM_201286.3 transcript reference sequence.

7 entries on 1 page. Showing entries 1 - 7.
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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.92T>C r.(?) p.(Val31Ala) Unknown - likely benign g.55515281A>G - USP51(NM_201286.3):c.92T>C (p.V31A) - USP51_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.128G>A r.(?) p.(Gly43Glu) Unknown - likely benign g.55515245C>T g.55488812C>T USP51(NM_201286.3):c.128G>A (p.G43E) - USP51_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.385C>G r.(?) p.(Arg129Gly) Unknown - VUS g.55514988G>C g.55488555G>C USP51(NM_201286.3):c.385C>G (p.(Arg129Gly)) - USP51_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.555G>A r.(?) p.(=) Maternal (inferred) - VUS g.55514818C>T g.55488385C>T - - USP51_000001 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
?/. - c.555G>A r.(?) p.(=) Maternal (inferred) - VUS g.55514818C>T g.55488385C>T - - USP51_000001 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
-?/. - c.1506T>C r.(?) p.(His502=) Unknown - likely benign g.55513867A>G g.55487434A>G USP51(NM_201286.3):c.1506T>C (p.H502=) - USP51_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. 2 c.1988G>A r.(?) S663N Parent #1 - VUS g.55513385C>T g.55486952C>T S663N - USP51_000005 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
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