Full data view for gene TREX1

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

17 entries on 1 page. Showing entries 1 - 17.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

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DNA change (genomic) (hg19)     

DNA change (hg38)     

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ClinVar ID     

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ID_report     

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+/+ 1 c.506G>A r.(?) p.(Arg169His) Unknown - pathogenic g.48508395G>A g.48466996G>A - - TREX1_000006 Functional tests reported with variant PubMed: Crow 2006 - - Germline - - - - - DNA SEQ - - AGS1 - PubMed: Crow 2006 homozygous and compound heterozygous mutation for AGS1, also identied as heterozygous mutation in SLE patient - - - - - - - - 18 Boukje de Vries
+/? 1 c.506G>A r.(?) p.(Arg169His) Both (homozygous) - pathogenic g.48508395G>A g.48466996G>A - - TREX1_000006 - Mavrogiannis LA, Lamb T, Flintoff K, Charlton RS - unpublished - - Germline - - - - - DNA SEQ - - AGS1 - Mavrogiannis LA, Lamb T, Flintoff K, Charlton RS - unpublished one case with heterozygosity for the RNASEH2B mutation c.529G>A as well - unclear significance - - - - - - - - 5 Lampros Mavrogiannis
+/? 1 c.506G>A r.(?) p.(Arg169His) Unknown - pathogenic g.48508395G>A g.48466996G>A - - TREX1_000006 - Mavrogiannis LA, Lamb T, Flintoff K, Charlton RS - unpublished - - Germline - - - - - DNA SEQ - - AGS1 - Mavrogiannis LA, Lamb T, Flintoff K, Charlton RS - unpublished - - - - - - - - - 1 Lampros Mavrogiannis
+/? 1 c.506G>A r.(?) p.(Arg169His) Unknown - pathogenic g.48508395G>A g.48466996G>A - - TREX1_000006 - Mavrogiannis LA, Lamb T, Flintoff K, Charlton RS - unpublished - - Germline - - - - - DNA SEQ - - AGS1 - Mavrogiannis LA, Lamb T, Flintoff K, Charlton RS - unpublished - - - - - - - - - 1 Lampros Mavrogiannis
+/? 1 c.506G>A r.(?) p.(Arg169His) Parent #1 - pathogenic g.48508395G>A g.48466996G>A - - TREX1_000006 - Mavrogiannis LA, Lamb T, Flintoff K, Charlton RS - unpublished - - Germline - - - - - DNA SEQ - - AGS1 - Mavrogiannis LA, Lamb T, Flintoff K, Charlton RS - unpublished - - - - - - - - - 1 Lampros Mavrogiannis
+/? 1 c.506G>A r.(?) p.(Arg169His) Unknown - pathogenic g.48508395G>A g.48466996G>A - - TREX1_000006 - Mavrogiannis LA, Lamb T, Flintoff K, Charlton RS - unpublished - - Germline - - - - - DNA SEQ - - AGS1 - Mavrogiannis LA, Lamb T, Flintoff K, Charlton RS - unpublished - - - - - - - - - 1 Lampros Mavrogiannis
+/? 1 c.506G>A r.(?) p.(Arg169His) Parent #1 - pathogenic g.48508395G>A g.48466996G>A - - TREX1_000006 - Mavrogiannis LA, Lamb T, Flintoff K, Charlton RS - unpublished - - Germline - - - - - DNA SEQ - - AGS1 - Mavrogiannis LA, Lamb T, Flintoff K, Charlton RS - unpublished - - - - - - - - - 1 Lampros Mavrogiannis
+/? 1 c.506G>A r.(?) p.(Arg169His) Both (homozygous) - pathogenic g.48508395G>A g.48466996G>A - - TREX1_000006 - Mavrogiannis LA, Lamb T, Flintoff K, Charlton RS - unpublished - - Germline - - - - - DNA SEQ - - AGS1 - Mavrogiannis LA, Lamb T, Flintoff K, Charlton RS - unpublished - - - - - - - - - 1 Lampros Mavrogiannis
+?/? 1 c.506G>A r.(?) p.(Arg169His) Paternal (confirmed) - likely pathogenic g.48508395G>A g.48466996G>A - - TREX1_000006 - Mavrogiannis LA, Lamb T, Flintoff K, Charlton RS - unpublished - - Germline - - - - - DNA SEQ - - AGS1 - Mavrogiannis LA, Lamb T, Flintoff K, Charlton RS - unpublished single heterozygous mutation - second, if present, uncharacterised - - - - - - - - 1 Lampros Mavrogiannis
+/+ 1 c.506G>A r.(?) p.(Arg169His) Parent #2 - pathogenic g.48508395G>A g.48466996G>A - - TREX1_000006 Functional tests reported with variant Prof. YJ Crow, Univ Manchester, unpublished - - Germline - - - - - DNA SEQ - - AGS1 - Prof. YJ Crow, Univ Manchester, unpublished - - - Belgium - - - - - 1 Boukje de Vries
+?/. - c.506G>A r.(?) p.(Arg169His) Unknown - likely pathogenic g.48508395G>A g.48466996G>A TREX1(NM_007248.2):c.311G>A (p.(Arg104His)), TREX1(NM_007248.4):c.311G>A (p.R104H), TREX1(NM_007248.5):c.311G>A (p.R104H), TREX1(NM_033629.6):c.341... - TREX1_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.506G>A r.(?) p.(Arg169His) Unknown - likely pathogenic g.48508395G>A g.48466996G>A TREX1(NM_007248.2):c.311G>A (p.(Arg104His)), TREX1(NM_007248.4):c.311G>A (p.R104H), TREX1(NM_007248.5):c.311G>A (p.R104H), TREX1(NM_033629.6):c.341... - TREX1_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.506G>A r.(?) p.(Arg169His) Unknown - pathogenic g.48508395G>A g.48466996G>A TREX1(NM_007248.2):c.311G>A (p.(Arg104His)), TREX1(NM_007248.4):c.311G>A (p.R104H), TREX1(NM_007248.5):c.311G>A (p.R104H), TREX1(NM_033629.6):c.341... - TREX1_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.506G>A r.(?) p.(Arg169His) Unknown - pathogenic g.48508395G>A g.48466996G>A TREX1(NM_007248.2):c.311G>A (p.(Arg104His)), TREX1(NM_007248.4):c.311G>A (p.R104H), TREX1(NM_007248.5):c.311G>A (p.R104H), TREX1(NM_033629.6):c.341... - TREX1_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.506G>A r.(?) p.(Arg169His) Unknown - likely pathogenic g.48508395G>A g.48466996G>A TREX1(NM_007248.2):c.311G>A (p.(Arg104His)), TREX1(NM_007248.4):c.311G>A (p.R104H), TREX1(NM_007248.5):c.311G>A (p.R104H), TREX1(NM_033629.6):c.341... - TREX1_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.506G>A r.(?) p.(Arg169His) Unknown ACMG pathogenic g.48508395G>A g.48466996G>A TREX1 c.341G>A, p.(Arg114His) - TREX1_000006 different transcript, NM_033629.6:c.341G>A is NM_016381.4(TREX1):c.506G>A, p.(Arg169His); heterozygous, probably non-causal incidental finding PubMed: Zhu 2022 - - Germline/De novo (untested) ? - - - - DNA SEQ-NG, SEQ saliva panel-based next generation sequencing retinal disease 50_59 PubMed: Zhu 2022 family 50, individual 59 F - - - - - - - 1 LOVD
+?/. - c.506G>A r.(?) p.(Arg169His) Unknown - likely pathogenic g.48508395G>A - TREX1(NM_007248.2):c.311G>A (p.(Arg104His)), TREX1(NM_007248.4):c.311G>A (p.R104H), TREX1(NM_007248.5):c.311G>A (p.R104H), TREX1(NM_033629.6):c.341... - TREX1_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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