Full data view for gene TRIM63

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

61 entries on 1 page. Showing entries 1 - 61.
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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     

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Gender     

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Age at death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
-?/. - c.30T>G r.(?) p.(Asp10Glu) Unknown - likely benign g.26393956A>C g.26067465A>C TRIM63(NM_032588.3):c.30T>G (p.D10E) - TRIM63_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.93C>T r.(?) p.(Thr31=) Unknown - likely benign g.26393893G>A g.26067402G>A TRIM63(NM_032588.3):c.93C>T (p.T31=) - TRIM63_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.114G>A r.(?) p.(Pro38=) Unknown - likely benign g.26393872C>T g.26067381C>T TRIM63(NM_032588.3):c.114G>A (p.P38=) - TRIM63_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.135G>C r.(?) p.(Arg45=) Unknown - benign g.26393851C>G g.26067360C>G TRIM63(NM_032588.3):c.135G>C (p.R45=) - TRIM63_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.135G>C r.(?) p.(Arg45=) Unknown - likely benign g.26393851C>G g.26067360C>G TRIM63(NM_032588.3):c.135G>C (p.R45=) - TRIM63_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.143C>T r.(?) p.(Ala48Val) Unknown - likely benign g.26393843G>A g.26067352G>A TRIM63(NM_032588.3):c.143C>T (p.A48V) - TRIM63_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+?/. - c.143C>T r.(?) p.(Ala48Val) Unknown - likely pathogenic (dominant) g.26393843G>A g.26067352G>A - - TRIM63_000008 not in 1090 controls PubMed: Chen 2012 - - Germline/De novo (untested) - 2/250 cases CMH - 0 - DNA SEQ - - CMH 22821932-F1876PatII3 PubMed: Chen 2012 2-generation family, 1 affected M - United States - - 0 - - 1 Johan den Dunnen
+?/. - c.143C>T r.(?) p.(Ala48Val) Unknown - likely pathogenic (dominant) g.26393843G>A g.26067352G>A - - TRIM63_000008 not in 1090 controls PubMed: Chen 2012 - - Germline/De novo (untested) - 2/250 cases CMH - 0 - DNA SEQ - - CMH 22821932-F1563PatII1 PubMed: Chen 2012 2-generation family, 1 affected F - United States - - 0 - - 1 Johan den Dunnen
+/. - c.143C>T r.(?) p.Ala48Val Unknown - NA g.26393843G>A g.26067352G>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 - - - - - - - - - - - - - - - - - - -
+/. - c.143C>T r.(?) p.Ala48Val Unknown - NA g.26393843G>A g.26067352G>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 - - - - - - - - - - - - - - - - - - -
-?/. - c.143C>T r.(?) p.(Ala48Val) Unknown - likely benign g.26393843G>A g.26067352G>A TRIM63(NM_032588.3):c.143C>T (p.A48V) - TRIM63_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.159+10G>A r.(=) p.(=) Unknown - likely benign g.26393817C>T g.26067326C>T TRIM63(NM_032588.3):c.159+10G>A - TRIM63_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.162T>G r.(?) p.(Ala54=) Unknown - likely benign g.26392929A>C g.26066438A>C TRIM63(NM_032588.3):c.162T>G (p.A54=) - TRIM63_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.221G>A r.(?) p.(Arg74His) Unknown - likely benign g.26392870C>T g.26066379C>T - - TRIM63_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.256C>T r.(?) p.(Arg86Cys) Unknown - VUS g.26392835G>A g.26066344G>A TRIM63(NM_032588.3):c.256C>T (p.R86C) - TRIM63_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.257G>A r.(?) p.(Arg86His) Unknown - - g.26392834C>T - TRIM63(NM_032588.3):c.257G>A (p.R86H) - TRIM63_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.257G>T r.(?) p.(Arg86Leu) Unknown - VUS g.26392834C>A g.26066343C>A - - TRIM63_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.263G>C r.(?) p.(Gly88Ala) Unknown - likely benign g.26392828C>G g.26066337C>G TRIM63(NM_032588.3):c.263G>C (p.G88A) - TRIM63_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.267G>T r.(?) p.(Val89=) Unknown - benign g.26392824C>A g.26066333C>A - - TRIM63_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.332+4G>A r.spl? p.? Unknown - likely benign g.26392755C>T g.26066264C>T TRIM63(NM_032588.3):c.332+4G>A - TRIM63_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.375C>T r.(?) p.(His125=) Unknown - likely benign g.26387783G>A g.26061292G>A TRIM63(NM_032588.3):c.375C>T (p.H125=) - TRIM63_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.375C>T r.(?) p.(His125=) Unknown - likely benign g.26387783G>A g.26061292G>A TRIM63(NM_032588.3):c.375C>T (p.H125=) - TRIM63_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.390C>G r.(?) p.(Ile130Met) Unknown - likely pathogenic (dominant) g.26387768G>C g.26061277G>C - - TRIM63_000012 not in 1090 controls PubMed: Chen 2012 - - Germline/De novo (untested) - 1/250 cases CMH - 0 - DNA SEQ - - CMH 22821932-F1062PatII1 PubMed: Chen 2012 3-generation family, 1 affected M - United States - - 0 - - 1 Johan den Dunnen
+/. - c.390C>G r.(?) p.Ile130Met Unknown - NA g.26387768G>C g.26061277G>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 - - - - - - - - - - - - - - - - - - -
+/. - c.390C>G r.(?) p.Ile130Met Unknown - NA g.26387768G>C g.26061277G>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 - - - - - - - - - - - - - - - - - - -
-?/. - c.481_482del r.(?) p.(Ser161CysfsTer8) Unknown - likely benign g.26387678_26387679del g.26061187_26061188del TRIM63(NM_032588.3):c.481_482delAG (p.S161Cfs*8) - TRIM63_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.481_482del r.(?) p.(Ser161CysfsTer8) Unknown - VUS g.26387678_26387679del g.26061187_26061188del TRIM63(NM_032588.3):c.481_482delAG (p.S161Cfs*8) - TRIM63_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.501+32T>A r.(=) p.(=) Unknown - VUS g.26387625A>T g.26061134A>T - - TRIM63_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.537G>A r.(?) p.(Ala179=) Unknown - likely benign g.26386817C>T g.26060326C>T - - TRIM63_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.548G>T r.(?) p.(Arg183Leu) Unknown - VUS g.26386806C>A g.26060315C>A TRIM63(NM_032588.3):c.548G>T (p.R183L) - TRIM63_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.560T>C r.(?) p.(Ile187Thr) Unknown - VUS g.26386794A>G g.26060303A>G - - TRIM63_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.583C>T r.(?) p.(Arg195Cys) Unknown - VUS g.26386771G>A g.26060280G>A - - TRIM63_000013 - PubMed: Chen 2012 - - Germline/De novo (untested) - 1/339 controls - 0 - DNA SEQ - - Healthy/Control 22821932-con PubMed: Chen 2012 control - - United States - - 0 - - 1 Johan den Dunnen
-/. - c.597+7G>A r.(=) p.(=) Unknown - benign g.26386750C>T g.26060259C>T TRIM63(NM_032588.3):c.597+7G>A - TRIM63_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.597+7G>A r.(=) p.(=) Unknown - likely benign g.26386750C>T g.26060259C>T TRIM63(NM_032588.3):c.597+7G>A - TRIM63_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.597+7G>A r.(=) p.(=) Unknown - likely benign g.26386750C>T g.26060259C>T TRIM63(NM_032588.3):c.597+7G>A - TRIM63_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.609C>A r.(?) p.(His203Gln) Unknown - likely benign g.26385103G>T g.26058612G>T TRIM63(NM_032588.3):c.609C>A (p.H203Q) - TRIM63_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.609C>A r.(?) p.(His203Gln) Unknown - likely benign g.26385103G>T g.26058612G>T TRIM63(NM_032588.3):c.609C>A (p.H203Q) - TRIM63_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.614T>C r.(?) p.(Val205Ala) Unknown - likely benign g.26385098A>G g.26058607A>G TRIM63(NM_032588.3):c.614T>C (p.V205A) - TRIM63_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.630C>A r.(?) p.(Ser210Arg) Unknown - likely benign g.26385082G>T g.26058591G>T - - TRIM63_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.644C>T r.(?) p.(Thr215Met) Unknown - likely benign g.26385068G>A g.26058577G>A TRIM63(NM_032588.3):c.644C>T (p.T215M) - TRIM63_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.644C>T r.(?) p.(Thr215Met) Unknown - likely benign g.26385068G>A g.26058577G>A TRIM63(NM_032588.3):c.644C>T (p.T215M) - TRIM63_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.695C>T r.(?) p.(Thr232Met) Unknown - likely benign g.26385017G>A g.26058526G>A - - TRIM63_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.709A>G r.(?) p.(Lys237Glu) Unknown - benign g.26385003T>C g.26058512T>C - - TRIM63_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 5 c.739C>T r.(?) p.(Gln247*) Both (homozygous) - likely pathogenic g.26384973G>A g.26058482G>A - - TRIM63_000011 - PubMed: Jokela 2019 - - Germline - - - 0 - DNA SEQ - 265 known/suspected skeletal-/cardiomyopathy-related gene panel CMH 30372688-Pat PubMed: Jokela 2019 - - - Finland - - 0 - - 1 Johan den Dunnen
+/. - c.739C>T r.0 p.0 Both (homozygous) - likely pathogenic g.26384973G>A g.26058482G>A - - TRIM63_000011 - PubMed: Olivé 2015 - - Germline yes - - 0 - DNA, RNA RT-PCR, SEQ, SEQ-NG - candidate gene screening and WES CMH 25801283-FamPatIII4 PubMed: Olivé 2015 4-generation family, 3 affected (2F, M), unaffected heterozygous carrier parents/relatives M - Spain - - 0 - - 3 Johan den Dunnen
+/. - c.739C>T r.(?) p.(Gln247*) Parent #1 - likely pathogenic (dominant) g.26384973G>A g.26058482G>A - - TRIM63_000011 not in 1090 controls PubMed: Chen 2012 - - Germline - 2/250 cases CMH - 0 - DNA SEQ - - CMH 22821932-F1300PatII1/2 PubMed: Chen 2012 2-generation family, affected sister/brother F;M - United States - - 0 - - 2 Johan den Dunnen
+/. - c.739C>T r.(?) p.(Gln247*) Unknown - likely pathogenic (dominant) g.26384973G>A g.26058482G>A - - TRIM63_000011 not in 1090 controls PubMed: Chen 2012 - - Germline/De novo (untested) - 2/250 cases CMH - 0 - DNA SEQ - - CMH 22821932-F2778PatII1 PubMed: Chen 2012 2-generation family, 1 affected heterozygous carriers M - United States - - 0 - - 1 Johan den Dunnen
+/. - c.739C>T r.(?) p.Gln247* Unknown - NA g.26384973G>A g.26058482G>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 - - - - - - - - - - - - - - - - - - -
+/. - c.739C>T r.(?) p.Gln247* Unknown - NA g.26384973G>A g.26058482G>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 - - - - - - - - - - - - - - - - - - -
?/. - c.739C>T r.(?) p.(Gln247*) Maternal (confirmed) - VUS g.26384973G>A g.26058482G>A - - TRIM63_000011 exclude variant as dominant pathogenic PubMed: Ploski 2014 - rs148395034 Germline - - - 0 - DNA SEQ, SEQ-NG - WES ? 24436435-Fam PubMed: Ploski 2014 2-generation family, unaffected heterozygous carrier mother/son F;M - Poland - - 0 - - 1 Johan den Dunnen
-?/. - c.739C>T r.(?) p.(Gln247Ter) Unknown - likely benign g.26384973G>A g.26058482G>A TRIM63(NM_032588.3):c.739C>T (p.Q247*) - TRIM63_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.739C>T r.(?) p.(Gln247Ter) Unknown - VUS g.26384973G>A g.26058482G>A TRIM63(NM_032588.3):c.739C>T (p.Q247*) - TRIM63_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.805G>A r.(?) p.(Glu269Lys) Unknown - likely benign g.26384907C>T g.26058416C>T TRIM63(NM_032588.3):c.805G>A (p.E269K) - TRIM63_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.805G>A r.(?) p.(Glu269Lys) Unknown - VUS g.26384907C>T g.26058416C>T TRIM63(NM_032588.3):c.805G>A (p.E269K) - TRIM63_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.814G>A r.(?) p.(Gly272Arg) Unknown - VUS g.26384898C>T g.26058407C>T - - TRIM63_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.855-11C>T r.(=) p.(=) Unknown - likely benign g.26383829G>A g.26057338G>A TRIM63(NM_032588.3):c.855-11C>T - TRIM63_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.893C>T r.(?) p.(Thr298Ile) Unknown - likely benign g.26383780G>A g.26057289G>A TRIM63(NM_032588.3):c.893C>T (p.T298I) - TRIM63_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1052-21_1052-20del r.(=) p.(=) Unknown - likely benign g.26378395_26378396del g.26051904_26051905del TRIM63(NM_032588.3):c.1052-21_1052-20delGT - SLC30A2_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1052-21_1052-20del r.(=) p.(=) Unknown - likely benign g.26378395_26378396del g.26051904_26051905del TRIM63(NM_032588.3):c.1052-21_1052-20delGT - SLC30A2_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.*2G>A r.(=) p.(=) Unknown - benign g.26378362C>T g.26051871C>T TRIM63(NM_032588.3):c.*2G>A - TRIM63_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.*2G>A r.(=) p.(=) Unknown - benign g.26378362C>T g.26051871C>T TRIM63(NM_032588.3):c.*2G>A - TRIM63_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
Legend