All transcript variants in gene UBE3B

Information The variants shown are described using the NM_183415.2 transcript reference sequence.

19 entries on 1 page. Showing entries 1 - 19.
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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.-128+360C>G benign r.(=) p.(=) g.109915929C>G - - - UBE3B_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
-/. - c.447+5C>A benign r.spl? p.? g.109924385C>A - UBE3B(NM_130466.3):c.447+5C>A - UBE3B_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Groningen
?/. - c.447+5_447+12del VUS r.spl? p.? g.109924385_109924392del - UBE3B(NM_001270449.1):c.447+3_447+10del (p.?) - UBE3B_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
-/. - c.447+11_447+28dup benign r.(=) p.(=) g.109924391_109924408dup - UBE3B(NM_130466.3):c.447+12_447+29dupAAAAAAAAAAAAAAAAAA - UBE3B_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
?/. - c.447+15_447+28dup VUS r.(=) p.(=) g.109924395_109924408dup - UBE3B(NM_001270449.1):c.447+5_447+6insAAAAAAAAAAAAAA (p.?) - UBE3B_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
-?/. - c.447+19_447+28dup likely benign r.(=) p.(=) g.109924399_109924408dup - UBE3B(NM_001270449.1):c.447+5_447+6insAAAAAAAAAA (p.?) - UBE3B_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
-?/. - c.447+21_447+28del likely benign r.(=) p.(=) g.109924401_109924408del - UBE3B(NM_130466.3):c.447+21_447+28delAAAAAAAA - UBE3B_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.730C>T VUS r.(?) p.(Gln244*) g.109935639C>T - UBE3B(NM_130466.3):c.730C>T (p.Q244*, p.?) - UBE3B_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
+?/. - c.730C>T likely pathogenic r.(?) p.(Gln244*) g.109935639C>T - UBE3B(NM_130466.3):c.730C>T (p.Q244*, p.?) - UBE3B_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. - c.730C>T VUS r.(?) p.(Gln244*) g.109935639C>T - UBE3B(NM_130466.3):c.730C>T (p.Q244*, p.?) - UBE3B_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.1017C>G likely benign r.(?) p.(=) g.109937514C>G - UBE3B(NM_130466.3):c.1017C>G (p.T339=) - UBE3B_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-/. - c.1037G>A benign r.(?) p.(Arg346Gln) g.109937534G>A - - - UBE3B_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
?/. - c.1156C>G VUS r.(?) p.(Gln386Glu) g.109939213C>G - UBE3B(NM_130466.3):c.1156C>G (p.(Gln386Glu)) - UBE3B_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
-?/. - c.1410G>A likely benign r.(?) p.(=) g.109940955G>A - UBE3B(NM_130466.3):c.1410G>A (p.S470=) - UBE3B_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.1609C>T VUS r.(?) p.(Arg537Trp) g.109945527C>T - UBE3B(NM_130466.3):c.1609C>T (p.R537W) - UBE3B_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.2085C>T likely benign r.(?) p.(=) g.109958961C>T - UBE3B(NM_130466.3):c.2085C>T (p.Y695=) - UBE3B_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.2428A>G likely benign r.(?) p.(Ser810Gly) g.109961846A>G - UBE3B(NM_130466.3):c.2428A>G (p.(Ser810Gly)) - UBE3B_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.2725C>T likely benign r.(?) p.(Pro909Ser) g.109967792C>T - UBE3B(NM_130466.3):c.2725C>T (p.(Pro909Ser)) - UBE3B_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
?/. - c.3065G>A VUS r.(?) p.(Arg1022His) g.109972445G>A - UBE3B(NM_130466.3):c.3065G>A (p.(Arg1022His)) - UBE3B_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
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