All variants in the USP51 gene

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     

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     

Owner     
-?/. - c.92T>C r.(?) p.(Val31Ala) - likely benign g.55515281A>G - USP51(NM_201286.3):c.92T>C (p.V31A) - USP51_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.128G>A r.(?) p.(Gly43Glu) - 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 - - - - - VKGL-NL_Rotterdam
?/. - c.385C>G r.(?) p.(Arg129Gly) - 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 - - - - - VKGL-NL_Leiden
?/. - c.555G>A r.(?) p.(=) - VUS g.55514818C>T g.55488385C>T - - USP51_000001 - - - - Germline - - - - - Yu Sun
?/. - c.555G>A r.(?) p.(=) - VUS g.55514818C>T g.55488385C>T - - USP51_000001 - - - - Germline - - - - - Yu Sun
-?/. - c.1506T>C r.(?) p.(His502=) - 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 - VKGL-NL_Rotterdam
?/. 2 c.1988G>A r.(?) S663N - VUS g.55513385C>T g.55486952C>T S663N - USP51_000005 found once, nonrecurrent change PubMed: Tarpey 2009 - - Germline - 1/208 cases - 0 - Lucy Raymond
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