All transcript variants in gene TRIM63

Information The variants shown are described using the NM_032588.3 transcript reference sequence.

60 entries on 1 page. Showing entries 1 - 60.
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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.30T>G likely benign r.(?) p.(Asp10Glu) g.26393956A>C - TRIM63(NM_032588.3):c.30T>G (p.D10E) - TRIM63_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
-?/. - c.93C>T likely benign r.(?) p.(=) g.26393893G>A - TRIM63(NM_032588.3):c.93C>T (p.T31=) - TRIM63_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. - c.114G>A likely benign r.(?) p.(=) g.26393872C>T - TRIM63(NM_032588.3):c.114G>A (p.P38=) - TRIM63_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-/. - c.135G>C benign r.(?) p.(=) g.26393851C>G - TRIM63(NM_032588.3):c.135G>C (p.R45=) - TRIM63_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Utrecht
-?/. - c.135G>C likely benign r.(?) p.(=) g.26393851C>G - TRIM63(NM_032588.3):c.135G>C (p.R45=) - TRIM63_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. - c.143C>T likely benign r.(?) p.(Ala48Val) g.26393843G>A - TRIM63(NM_032588.3):c.143C>T (p.A48V) - TRIM63_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Utrecht
+?/. - c.143C>T likely pathogenic (dominant) r.(?) p.(Ala48Val) g.26393843G>A - - - TRIM63_000008 not in 1090 controls PubMed: Chen 2012 - - Germline/De novo (untested) - 2/250 cases CMH - 0 - Johan den Dunnen
+?/. - c.143C>T likely pathogenic (dominant) r.(?) p.(Ala48Val) g.26393843G>A - - - TRIM63_000008 not in 1090 controls PubMed: Chen 2012 - - Germline/De novo (untested) - 2/250 cases CMH - 0 - Johan den Dunnen
+/. - c.143C>T NA - p.Ala48Val g.26393843G>A - - - TRIM63_000008 FLAG-tagged cDNA expression cloning and co-IP in HeLa cells showed 0.60 reduced autoubiquitination; other assays performed as well PubMed: Chen 2012 - - In vitro (cloned) - - - 0 - Johan den Dunnen
+/. - c.143C>T NA - p.Ala48Val g.26393843G>A - - - TRIM63_000008 FLAG-tagged cDNA expression cloning and co-IP in HeLa cells showed 0.60 reduced autoubiquitination; other assays performed as well PubMed: Chen 2012 - - In vitro (cloned) - - - 0 - Johan den Dunnen
-?/. - c.143C>T likely benign r.(?) p.(Ala48Val) g.26393843G>A - TRIM63(NM_032588.3):c.143C>T (p.A48V) - TRIM63_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.159+10G>A likely benign r.(=) p.(=) g.26393817C>T - TRIM63(NM_032588.3):c.159+10G>A - TRIM63_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
-?/. - c.162T>G likely benign r.(?) p.(=) g.26392929A>C - TRIM63(NM_032588.3):c.162T>G (p.A54=) - TRIM63_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. - c.221G>A likely benign r.(?) p.(Arg74His) g.26392870C>T - - - chr1_013846 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. - c.256C>T VUS r.(?) p.(Arg86Cys) g.26392835G>A - TRIM63(NM_032588.3):c.256C>T (p.R86C) - TRIM63_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. - c.257G>T VUS r.(?) p.(Arg86Leu) g.26392834C>A - - - chr1_013845 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. - c.263G>C likely benign r.(?) p.(Gly88Ala) g.26392828C>G - TRIM63(NM_032588.3):c.263G>C (p.G88A) - TRIM63_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-/. - c.267G>T benign r.(?) p.(=) g.26392824C>A - - - chr1_013844 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. - c.332+4G>A likely benign r.spl? p.? g.26392755C>T - TRIM63(NM_032588.3):c.332+4G>A - chr1_013843 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. - c.375C>T likely benign r.(?) p.(=) g.26387783G>A - TRIM63(NM_032588.3):c.375C>T (p.H125=) - TRIM63_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Utrecht
-?/. - c.375C>T likely benign r.(?) p.(=) g.26387783G>A - TRIM63(NM_032588.3):c.375C>T (p.H125=) - TRIM63_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+?/. - c.390C>G likely pathogenic (dominant) r.(?) p.(Ile130Met) g.26387768G>C - - - TRIM63_000012 not in 1090 controls PubMed: Chen 2012 - - Germline/De novo (untested) - 1/250 cases CMH - 0 - Johan den Dunnen
+/. - c.390C>G NA - p.Ile130Met g.26387768G>C - - - TRIM63_000012 FLAG-tagged cDNA expression cloning and co-IP in HeLa cells showed 0.70 reduced autoubiquitination; other assays performed as well PubMed: Chen 2012 - - In vitro (cloned) - - - 0 - Johan den Dunnen
+/. - c.390C>G NA - p.Ile130Met g.26387768G>C - - - TRIM63_000012 FLAG-tagged cDNA expression cloning and co-IP in HeLa cells showed 0.70 reduced autoubiquitination; other assays performed as well PubMed: Chen 2012 - - In vitro (cloned) - - - 0 - Johan den Dunnen
-?/. - c.481_482del likely benign r.(?) p.(Ser161Cysfs*8) g.26387678_26387679del - TRIM63(NM_032588.3):c.481_482delAG (p.S161Cfs*8) - TRIM63_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.481_482del VUS r.(?) p.(Ser161Cysfs*8) g.26387678_26387679del - TRIM63(NM_032588.3):c.481_482delAG (p.S161Cfs*8) - TRIM63_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
?/. - c.501+32T>A VUS r.(=) p.(=) g.26387625A>T - - - chr1_013842 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. - c.537G>A likely benign r.(?) p.(=) g.26386817C>T - - - chr1_013841 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. - c.548G>T VUS r.(?) p.(Arg183Leu) g.26386806C>A - TRIM63(NM_032588.3):c.548G>T (p.R183L) - chr1_013840 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. - c.560T>C VUS r.(?) p.(Ile187Thr) g.26386794A>G - - - chr1_013839 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. - c.583C>T VUS r.(?) p.(Arg195Cys) g.26386771G>A - - - TRIM63_000013 - PubMed: Chen 2012 - - Germline/De novo (untested) - 1/339 controls - 0 - Johan den Dunnen
-/. - c.597+7G>A benign r.(=) p.(=) g.26386750C>T - TRIM63(NM_032588.3):c.597+7G>A - TRIM63_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Utrecht
-?/. - c.597+7G>A likely benign r.(=) p.(=) g.26386750C>T - TRIM63(NM_032588.3):c.597+7G>A - TRIM63_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.597+7G>A likely benign r.(=) p.(=) g.26386750C>T - TRIM63(NM_032588.3):c.597+7G>A - TRIM63_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. - c.609C>A likely benign r.(?) p.(His203Gln) g.26385103G>T - TRIM63(NM_032588.3):c.609C>A (p.H203Q) - TRIM63_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.609C>A likely benign r.(?) p.(His203Gln) g.26385103G>T - TRIM63(NM_032588.3):c.609C>A (p.H203Q) - TRIM63_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. - c.614T>C likely benign r.(?) p.(Val205Ala) g.26385098A>G - TRIM63(NM_032588.3):c.614T>C (p.V205A) - TRIM63_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
-?/. - c.630C>A likely benign r.(?) p.(Ser210Arg) g.26385082G>T - - - chr1_013838 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. - c.644C>T likely benign r.(?) p.(Thr215Met) g.26385068G>A - TRIM63(NM_032588.3):c.644C>T (p.T215M) - TRIM63_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.644C>T likely benign r.(?) p.(Thr215Met) g.26385068G>A - TRIM63(NM_032588.3):c.644C>T (p.T215M) - TRIM63_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. - c.695C>T likely benign r.(?) p.(Thr232Met) g.26385017G>A - - - chr1_013837 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-/. - c.709A>G benign r.(?) p.(Lys237Glu) g.26385003T>C - - - chr1_013836 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
+/. 5 c.739C>T likely pathogenic r.(?) p.(Gln247*) g.26384973G>A - - - TRIM63_000011 - PubMed: Jokela 2019 - - Germline - - - 0 - Johan den Dunnen
+/. - c.739C>T likely pathogenic r.0 p.0 g.26384973G>A - - - TRIM63_000011 - PubMed: Olivé 2015 - - Germline yes - - 0 - Johan den Dunnen
+/. - c.739C>T likely pathogenic (dominant) r.(?) p.(Gln247*) g.26384973G>A - - - TRIM63_000011 not in 1090 controls PubMed: Chen 2012 - - Germline - 2/250 cases CMH - 0 - Johan den Dunnen
+/. - c.739C>T likely pathogenic (dominant) r.(?) p.(Gln247*) g.26384973G>A - - - TRIM63_000011 not in 1090 controls PubMed: Chen 2012 - - Germline/De novo (untested) - 2/250 cases CMH - 0 - Johan den Dunnen
+/. - c.739C>T NA - p.Gln247* g.26384973G>A - - - TRIM63_000011 FLAG-tagged cDNA expression cloning and co-IP in HeLa cells showed near complete loss of autoubiquitination; other assays performed as well PubMed: Chen 2012 - - In vitro (cloned) - - - 0 - Johan den Dunnen
+/. - c.739C>T NA - p.Gln247* g.26384973G>A - - - TRIM63_000011 FLAG-tagged cDNA expression cloning and co-IP in HeLa cells showed near complete loss of autoubiquitination; other assays performed as well PubMed: Chen 2012 - - In vitro (cloned) - - - 0 - Johan den Dunnen
?/. - c.739C>T VUS r.(?) p.(Gln247*) g.26384973G>A - - - TRIM63_000011 exclude variant as dominant pathogenic PubMed: Ploski 2014 - rs148395034 Germline - - - 0 - Johan den Dunnen
-?/. - c.739C>T likely benign r.(?) p.(Gln247*) g.26384973G>A - TRIM63(NM_032588.3):c.739C>T (p.Q247*) - TRIM63_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
?/. - c.739C>T VUS r.(?) p.(Gln247*) g.26384973G>A - TRIM63(NM_032588.3):c.739C>T (p.Q247*) - TRIM63_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.805G>A likely benign r.(?) p.(Glu269Lys) g.26384907C>T - TRIM63(NM_032588.3):c.805G>A (p.E269K) - TRIM63_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Utrecht
?/. - c.805G>A VUS r.(?) p.(Glu269Lys) g.26384907C>T - TRIM63(NM_032588.3):c.805G>A (p.E269K) - TRIM63_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. - c.814G>A VUS r.(?) p.(Gly272Arg) g.26384898C>T - - - chr1_013835 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. - c.855-11C>T likely benign r.(=) p.(=) g.26383829G>A - TRIM63(NM_032588.3):c.855-11C>T - TRIM63_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
-?/. - c.893C>T likely benign r.(?) p.(Thr298Ile) g.26383780G>A - TRIM63(NM_032588.3):c.893C>T (p.T298I) - TRIM63_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. - c.1052-21_1052-20del likely benign r.(=) p.(=) g.26378395_26378396del - TRIM63(NM_032588.3):c.1052-21_1052-20delGT - chr1_013834 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. - c.1052-21_1052-20del likely benign r.(=) p.(=) g.26378395_26378396del - TRIM63(NM_032588.3):c.1052-21_1052-20delGT - chr1_013834 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-/. - c.*2G>A benign r.(=) p.(=) g.26378362C>T - TRIM63(NM_032588.3):c.*2G>A - TRIM63_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Utrecht
-/. - c.*2G>A benign r.(=) p.(=) g.26378362C>T - TRIM63(NM_032588.3):c.*2G>A - TRIM63_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
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