Full data view for gene TRIM8

Information The variants shown are described using the NM_030912.2 transcript reference sequence.

32 entries on 1 page. Showing entries 1 - 32.
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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.50T>G r.(?) p.(Ile17Ser) Unknown - VUS g.104404424T>G - TRIM8(NM_030912.3):c.50T>G (p.(Ile17Ser)) - TRIM8_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.223G>T r.(?) p.(Val75Leu) Unknown - VUS g.104404597G>T - TRIM8(NM_030912.2):c.223G>T (p.(Val75Leu)) - TRIM8_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.260C>T r.(?) p.(Pro87Leu) Unknown - VUS g.104404634C>T - TRIM8(NM_030912.3):c.260C>T (p.P87L) - TRIM8_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.270G>A r.(?) p.(Leu90=) Unknown - likely benign g.104404644G>A - TRIM8(NM_030912.2):c.270G>A (p.L90=) - TRIM8_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.270G>A r.(?) p.(Leu90=) Unknown - benign g.104404644G>A - TRIM8(NM_030912.2):c.270G>A (p.L90=) - TRIM8_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.557G>A r.(?) p.(Arg186Lys) Unknown - VUS g.104404931G>A - TRIM8(NM_030912.2):c.557G>A (p.(Arg186Lys)) - TRIM8_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.817G>A r.(?) p.(Gly273Arg) Unknown - likely benign g.104414987G>A - TRIM8(NM_030912.2):c.817G>A (p.(Gly273Arg)) - TRIM8_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.933-16C>T r.(=) p.(=) Unknown - likely benign g.104416011C>T - TRIM8(NM_030912.2):c.933-16C>T - TRIM8_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1085T>C r.(?) p.(Val362Ala) Unknown - VUS g.104416540T>C - - - TRIM8_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1163del r.(?) p.(Phe388Serfs*2) Unknown - pathogenic (dominant) g.104416618del g.102656861del - - TRIM8_000004 - PubMed: Weng 2021 - - De novo - - - - - DNA SEQ-NG - WES ? S1666 PubMed: Weng 2021 2-generation family, 1 affected, unaffected heterozygous carrier parents F - - Europe - - - - 1 LOVD
-?/. - c.1192G>A r.(?) p.(Gly398Ser) Unknown - likely benign g.104416647G>A - TRIM8(NM_030912.3):c.1192G>A (p.G398S) - TRIM8_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1197G>T r.(?) p.(Gln399His) Unknown - likely benign g.104416652G>T - TRIM8(NM_030912.3):c.1197G>T (p.(Gln399His)) - TRIM8_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1197G>T r.(?) p.(Gln399His) Unknown - VUS g.104416652G>T - TRIM8(NM_030912.3):c.1197G>T (p.(Gln399His)) - TRIM8_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1201_1202delInsTA r.(?) p.(Gly401*) Unknown - pathogenic (dominant) g.104416656_104416657delinsTA g.102656899_102656900delinsTA - - TRIM8_000005 - PubMed: Weng 2021 - - De novo - - - - - DNA SEQ-NG - WES ? RAP027 PubMed: Weng 2021 2-generation family, 1 affected, unaffected heterozygous carrier parents F - - Europe;Asia-South - - - - 1 LOVD
+/. - c.1231C>T r.(?) p.(Gln411*) Unknown - pathogenic (dominant) g.104416686C>T g.102656929C>T - - TRIM8_000006 - PubMed: Weng 2021 - - De novo - - - - - DNA SEQ-NG - WES ? F827 PubMed: Weng 2021 2-generation family, 1 affected, unaffected heterozygous carrier parents M - Turkey - - - - - 1 LOVD
+/. - c.1240C>T r.(?) p.(Gln414*) Unknown - pathogenic (dominant) g.104416695C>T g.102656938C>T - - TRIM8_000007 - PubMed: Weng 2021 - - De novo - - - - - DNA SEQ-NG - WES ? A4582 PubMed: Weng 2021 2-generation family, 1 affected, unaffected heterozygous carrier parents F - Germany - - - - - 1 LOVD
+/. - c.1267C>T r.(?) p.(Gln423*) Unknown - pathogenic (dominant) g.104416722C>T g.102656965C>T - - TRIM8_000008 - PubMed: Weng 2021 - - De novo - - - - - DNA SEQ-NG - WES ? DUKEPIMIK01 PubMed: Weng 2021 2-generation family, 1 affected, unaffected heterozygous carrier parents M - United States African American - - - - 1 LOVD
-?/. - c.1291G>A r.(?) p.(Gly431Ser) Unknown - likely benign g.104416746G>A - - - TRIM8_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1327C>A r.(?) p.(Pro443Thr) Unknown - likely benign g.104416782C>A - TRIM8(NM_030912.2):c.1327C>A (p.P443T), TRIM8(NM_030912.3):c.1327C>A (p.P443T) - TRIM8_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1327C>A r.(?) p.(Pro443Thr) Unknown - likely benign g.104416782C>A - TRIM8(NM_030912.2):c.1327C>A (p.P443T), TRIM8(NM_030912.3):c.1327C>A (p.P443T) - TRIM8_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1333C>T r.(?) p.(Gln445*) Unknown - pathogenic (dominant) g.104416788C>T g.102657031C>T - - TRIM8_000009 - PubMed: Weng 2021 - - De novo - - - - - DNA SEQ-NG - WES ? FSGSGE126 PubMed: Weng 2021 2-generation family, 1 affected, unaffected heterozygous carrier parents F - Italy - - - - - 1 LOVD
?/. - c.1349C>T r.(?) p.(Ser450Phe) Unknown - VUS g.104416804C>T g.102657047C>T - - TRIM8_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1375C>T r.(?) p.(Gln459*) Unknown - pathogenic (dominant) g.104416830C>T g.102657073C>T - - TRIM8_000010 - PubMed: Weng 2021 - - De novo - - - - - DNA SEQ-NG - WES ? UC-023-1 PubMed: Weng 2021 2-generation family, 1 affected, unaffected heterozygous carrier parents M - Korea - - - - - 1 LOVD
+/. - c.1375C>T r.(?) p.(Gln459*) Unknown - pathogenic (dominant) g.104416830C>T g.102657073C>T - - TRIM8_000010 - PubMed: Weng 2021 - - De novo - - - - - DNA SEQ-NG - WES ? HN-F65 PubMed: Weng 2021 2-generation family, 1 affected, unaffected heterozygous carrier parents M - Germany - - - - - 1 LOVD
+/. - c.1375C>T r.(?) p.(Gln459*) Unknown - pathogenic (dominant) g.104416830C>T g.102657073C>T - - TRIM8_000010 - PubMed: Weng 2021 - - De novo - - - - - DNA SEQ-NG - WES ? UDN171252 PubMed: Weng 2021 2-generation family, 1 affected, unaffected heterozygous carrier parents F - - Europe - - - - 1 LOVD
+/. - c.1380T>A r.(?) p.(Tyr460*) Unknown - pathogenic (dominant) g.104416835T>A g.102657078T>A - - TRIM8_000011 - PubMed: Weng 2021 - - De novo - - - - - DNA SEQ-NG - WES ? B1117b PubMed: Weng 2021 2-generation family, 1 affected, unaffected heterozygous carrier parents M - - Hispanic - - - - 1 LOVD
+/. - c.1380T>G r.(?) p.(Tyr460*) Unknown - pathogenic (dominant) g.104416835T>G g.102657078T>G - - TRIM8_000012 - PubMed: Weng 2021 - - De novo - - - - - DNA SEQ-NG - WES ? B3883 PubMed: Weng 2021 2-generation family, 1 affected, unaffected heterozygous carrier parents F - - Middle East - - - - 1 LOVD
?/. - c.1457C>T r.(?) p.(Pro486Leu) Unknown - VUS g.104416912C>T - TRIM8(NM_030912.3):c.1457C>T (p.(Pro486Leu)) - TRIM8_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1461C>G r.(?) p.(Tyr487*) Unknown - pathogenic (dominant) g.104416916C>G g.102657159C>G - - TRIM8_000013 - PubMed: Weng 2021 - - De novo - - - - - DNA SEQ-NG - WES ? FG-FAc PubMed: Weng 2021 2-generation family, 1 affected, unaffected heterozygous carrier parents M - - Ireland;Hispanic - - - - 1 LOVD
-?/. - c.1551C>A r.(?) p.(Pro517=) Unknown - likely benign g.104417006C>A - TRIM8(NM_030912.2):c.1551C>A (p.P517=) - TRIM8_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1593C>T r.(?) p.(Pro531=) Unknown - likely benign g.104417048C>T - TRIM8(NM_030912.2):c.1593C>T (p.P531=) - TRIM8_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1652G>C r.(?) p.(Ser551Thr) Unknown - VUS g.104417107G>C - TRIM8(NM_030912.3):c.1652G>C (p.S551T) - TRIM8_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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