Full data view for gene TOPORS

This database is one of the "Eye disease" gene variant databases.
Information The variants shown are described using the NM_005802.4 transcript reference sequence.

13 entries on 1 page. Showing entries 1 - 13.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Allele     

Classification method     

Clinical classification     

DNA change (genomic) (hg19)     

DNA change (hg38)     

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ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Template     

Technique     

Tissue     

Remarks     

Disease     

ID_report     

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Data_av     

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Panel size     

Owner     
+?/. - c.1205A>C r.(?) p.(Gln402Pro) Parent #1 - likely pathogenic g.32543318T>G - - - TOPORS_000049 - PubMed: Holtan 2020 - - Germline - 1/899 cases - - - DNA SEQ - - retinal disease - PubMed: Holtan 2020 1 patient with variant in heterozygous or compound heterozygous form - - Norway - - - - - 1 Global Variome, with Curator vacancy
+?/. 3 c.1205A>C r.(?) p.(Gln402Pro) Maternal (inferred) - likely pathogenic g.32543318T>G g.32543320T>G TOPORS c.1205a>c, p.Q402P - TOPORS_000049 heterozygous PubMed: Selmer 2010 - - Germline yes 0/207 healthy control subjects of Norwegian origin - - - DNA arraySNP, SEQ - RHO, RP1, RDS and IMPDH1 genes as a cause of adRP in this family were excluded retinal disease VI:3 PubMed: Selmer 2010 7 generation large Norwegian family with pericentral retinal dystrophy F - Norway Norwegian - - - - 1 LOVD
+?/. 3 c.1205A>C r.(?) p.(Gln402Pro) Paternal (inferred) - likely pathogenic g.32543318T>G g.32543320T>G TOPORS c.1205a>c, p.Q402P - TOPORS_000049 heterozygous PubMed: Selmer 2010 - - Germline yes 0/207 healthy control subjects of Norwegian origin - - - DNA arraySNP, SEQ - RHO, RP1, RDS and IMPDH1 genes as a cause of adRP in this family were excluded retinal disease VI:6 PubMed: Selmer 2010 7 generation large Norwegian family with pericentral retinal dystrophy F - Norway Norwegian - - - - 1 LOVD
+?/. 3 c.1205A>C r.(?) p.(Gln402Pro) Paternal (inferred) - likely pathogenic g.32543318T>G g.32543320T>G TOPORS c.1205a>c, p.Q402P - TOPORS_000049 heterozygous PubMed: Selmer 2010 - - Germline yes 0/207 healthy control subjects of Norwegian origin - - - DNA arraySNP, SEQ - RHO, RP1, RDS and IMPDH1 genes as a cause of adRP in this family were excluded retinal disease VI:9 PubMed: Selmer 2010 7 generation large Norwegian family with pericentral retinal dystrophy F - Norway Norwegian - - - - 1 LOVD
+?/. 3 c.1205A>C r.(?) p.(Gln402Pro) Paternal (inferred) - likely pathogenic g.32543318T>G g.32543320T>G TOPORS c.1205a>c, p.Q402P - TOPORS_000049 heterozygous PubMed: Selmer 2010 - - Germline yes 0/207 healthy control subjects of Norwegian origin - - - DNA arraySNP, SEQ - RHO, RP1, RDS and IMPDH1 genes as a cause of adRP in this family were excluded retinal disease VI:16 PubMed: Selmer 2010 7 generation large Norwegian family with pericentral retinal dystrophy F - Norway Norwegian - - - - 1 LOVD
+?/. 3 c.1205A>C r.(?) p.(Gln402Pro) Paternal (inferred) - likely pathogenic g.32543318T>G g.32543320T>G TOPORS c.1205a>c, p.Q402P - TOPORS_000049 heterozygous PubMed: Selmer 2010 - - Germline yes 0/207 healthy control subjects of Norwegian origin - - - DNA arraySNP, SEQ - RHO, RP1, RDS and IMPDH1 genes as a cause of adRP in this family were excluded retinal disease VI:28 PubMed: Selmer 2010 7 generation large Norwegian family with pericentral retinal dystrophy M - Norway Norwegian - - - - 1 LOVD
+?/. 3 c.1205A>C r.(?) p.(Gln402Pro) Paternal (inferred) - likely pathogenic g.32543318T>G g.32543320T>G TOPORS c.1205a>c, p.Q402P - TOPORS_000049 heterozygous PubMed: Selmer 2010 - - Germline yes 0/207 healthy control subjects of Norwegian origin - - - DNA arraySNP, SEQ - RHO, RP1, RDS and IMPDH1 genes as a cause of adRP in this family were excluded retinal disease VI:31 PubMed: Selmer 2010 7 generation large Norwegian family with pericentral retinal dystrophy F - Norway Norwegian - - - - 1 LOVD
+?/. 3 c.1205A>C r.(?) p.(Gln402Pro) Maternal (inferred) - likely pathogenic g.32543318T>G g.32543320T>G TOPORS c.1205a>c, p.Q402P - TOPORS_000049 heterozygous PubMed: Selmer 2010 - - Germline yes 0/207 healthy control subjects of Norwegian origin - - - DNA arraySNP, SEQ - RHO, RP1, RDS and IMPDH1 genes as a cause of adRP in this family were excluded retinal disease VI:33 PubMed: Selmer 2010 7 generation large Norwegian family with pericentral retinal dystrophy F - Norway Norwegian - - - - 1 LOVD
+?/. 3 c.1205A>C r.(?) p.(Gln402Pro) Maternal (confirmed) - likely pathogenic g.32543318T>G g.32543320T>G TOPORS c.1205a>c, p.Q402P - TOPORS_000049 heterozygous PubMed: Selmer 2010 - - Germline yes 0/207 healthy control subjects of Norwegian origin - - - DNA arraySNP, SEQ - RHO, RP1, RDS and IMPDH1 genes as a cause of adRP in this family were excluded retinal disease VII:4 PubMed: Selmer 2010 7 generation large Norwegian family with pericentral retinal dystrophy M - Norway Norwegian - - - - 1 LOVD
+?/. 3 c.1205A>C r.(?) p.(Gln402Pro) Maternal (confirmed) - likely pathogenic g.32543318T>G g.32543320T>G TOPORS c.1205a>c, p.Q402P - TOPORS_000049 heterozygous PubMed: Selmer 2010 - - Germline yes 0/207 healthy control subjects of Norwegian origin - - - DNA arraySNP, SEQ - RHO, RP1, RDS and IMPDH1 genes as a cause of adRP in this family were excluded retinal disease VII:5 PubMed: Selmer 2010 7 generation large Norwegian family with pericentral retinal dystrophy F - Norway Norwegian - - - - 1 LOVD
+?/. 3 c.1205A>C r.(?) p.(Gln402Pro) Maternal (confirmed) - likely pathogenic g.32543318T>G g.32543320T>G TOPORS c.1205a>c, p.Q402P - TOPORS_000049 heterozygous PubMed: Selmer 2010 - - Germline yes 0/207 healthy control subjects of Norwegian origin - - - DNA arraySNP, SEQ - RHO, RP1, RDS and IMPDH1 genes as a cause of adRP in this family were excluded retinal disease VII:13 PubMed: Selmer 2010 7 generation large Norwegian family with pericentral retinal dystrophy M - Norway Norwegian - - - - 1 LOVD
+?/. 3 c.1205A>C r.(?) p.(Gln402Pro) Unknown - likely pathogenic g.32543318T>G g.32543320T>G TOPORS c.1205A>C/p.Q402P - TOPORS_000049 heterozygous PubMed: Schob 2009 - - Germline yes - - - - DNA SSCA, SEQ - - retinal disease 1 PubMed: Schob 2009 - M - - - - - - - 1 LOVD
?/. - c.1205A>C r.(?) p.(Gln402Pro) Unknown ACMG VUS g.32543318T>G g.32543320T>G - - TOPORS_000049 ACMG PM2, BP4 PubMed: Weisschuh 2024 - - Germline/De novo (untested) - - - - - DNA SEQ-NG - WGS ? SRP-1243 PubMed: Weisschuh 2024 patient, no family history M - Germany - - - - - 1 Johan den Dunnen
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