Full data view for gene PRPF3

This database is one of the "Eye disease" gene variant databases.
Information The variants shown are described using the NM_004698.2 transcript reference sequence.

22 entries on 1 page. Showing entries 1 - 22.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

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Clinical classification     

DNA change (genomic) (hg19)     

DNA change (hg38)     

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Variant remarks     

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ClinVar ID     

dbSNP ID     

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Methylation     

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Disease     

ID_report     

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+/. - c.1481C>T r.(?) p.(Thr494Met) Unknown - pathogenic g.150316692C>T g.150344216C>T - - PRPF3_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1481C>T r.(?) p.(Thr494Met) Unknown ACMG pathogenic g.150316692C>T - - - PRPF3_000019 - PubMed: Sharon 2019 - - Germline - 2/2420 IRD families - - - DNA SEQ - - retinal disease - PubMed: Sharon 2019 family - - Israel - - - - - 1 Global Variome, with Curator vacancy
+/. 11 c.1481C>T r.(?) p.(Thr494Met) Parent #2 - pathogenic (dominant) g.150316692C>T - 1482C>T / T494M - PRPF3_000019 - PubMed: Martínez-Gimeno 2003 - - Germline yes - - - - DNA DGGE, SEQ Blood - retinal disease - PubMed: Martínez-Gimeno 2003 - - - - Spanish - - - - 1 Julia Lopez
+?/. - c.1481C>T r.(?) p.(Thr494Met) Unknown - likely pathogenic g.150316692C>T g.150344216C>T - - PRPF3_000019 - PubMed: Stone 2017 - - Germline - - - - - DNA SEQ-NG - - retinal disease 50 PubMed: Stone 2017 1 affected M - (United States) - - - - - 1 LOVD
+?/. - c.1481C>T r.(?) p.(Thr494Met) Unknown - likely pathogenic g.150316692C>T g.150344216C>T - - PRPF3_000019 - PubMed: Stone 2017 - - Germline - - - - - DNA SEQ-NG - - retinal disease 297 PubMed: Stone 2017 1 affected F - (United States) - - - - - 1 LOVD
+/. 11 c.1481C>T r.(?) p.(Thr494Met) Parent #1 - pathogenic g.150316692C>T - 1481C>T - PRPF3_000019 - PubMed: Sullivan 2006 - - Germline yes - - - - DNA SEQ - - retinal disease - PubMed: Sullivan 2006 1 family - - United States - - - - - 1 Julia Lopez
+/. - c.1481C>T r.(?) p.(Thr494Met) Parent #1 - pathogenic (dominant) g.150316692C>T - - - PRPF3_000019 - PubMed: Beryozkin 2015, PubMed: Sharon 2019 - - Germline - 2/2420 IRD families - - - DNA SEQ - - retinal disease MOL0108 PubMed: Beryozkin 2015, PubMed: Sharon 2019 family - - Israel Jewish-Yemenite - - - - 1 Global Variome, with Curator vacancy
+/. - c.1481C>T r.(?) p.(Thr494Met) Unknown - pathogenic (dominant) g.150316692C>T g.150344216C>T - - PRPF3_000019 - PubMed: Xu 2014 - - Germline - - - - - DNA SEQ-NG - gene panel retinal disease RP259 PubMed: Xu 2014 family M - China - - - - - 1 LOVD
+/. - c.1481C>T r.(?) p.(Thr494Met) Parent #1 - pathogenic g.150316692C>T g.150344216C>T - - PRPF3_000019 - PubMed: Méndez-Vidal 2014 - - Germline - - - - - DNA arraySEQ - Asper retinal disease Pat9 PubMed: Méndez-Vidal 2014 - - - Spain - - - - - 1 LOVD
+?/. 11 c.1481C>T r.(?) p.(Thr494Met) Unknown - likely pathogenic g.150316692C>T g.150344216C>T - - PRPF3_000019 - PubMed: Martin-Merida 2018 - - Germline ? 3/258 - - - DNA ? - various screening techniques within publication, not mentioned which particular individual had which techniques: SSCA, DGGE, arraySNP, SEQ-NG, WES retinal disease ? PubMed: Martin-Merida 2018 - - - Spain - - - - - 1 LOVD
+?/. 11 c.1481C>T r.(?) p.(Thr494Met) Unknown - likely pathogenic g.150316692C>T g.150344216C>T - - PRPF3_000019 - PubMed: Martin-Merida 2018 - - Germline ? 3/258 - - - DNA ? - various screening techniques within publication, not mentioned which particular individual had which techniques: SSCA, DGGE, arraySNP, SEQ-NG, WES retinal disease ? PubMed: Martin-Merida 2018 - - - Spain - - - - - 1 LOVD
+?/. 11 c.1481C>T r.(?) p.(Thr494Met) Unknown - likely pathogenic g.150316692C>T g.150344216C>T - - PRPF3_000019 - PubMed: Martin-Merida 2018 - - Germline ? 3/258 - - - DNA ? - various screening techniques within publication, not mentioned which particular individual had which techniques: SSCA, DGGE, arraySNP, SEQ-NG, WES retinal disease ? PubMed: Martin-Merida 2018 - - - Spain - - - - - 1 LOVD
?/. 11 c.1481C>T r.(?) p.(Thr494Met) Both (homozygous) - NA g.150316692C>T - p.T494M - PRPF3_000019 - PubMed: Tanackovic 2011 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
?/. 11 c.1481C>T r.(?) p.(Thr494Met) Both (homozygous) - NA g.150316692C>T - p.T494M - PRPF3_000019 - PubMed: Tanackovic 2011 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
+/. 11 c.1481C>T r.(?) p.(Thr494Met) Unknown - pathogenic g.150316692C>T - c.1481C>T - PRPF3_000019 - PubMed: _Audo-2012 - - Unknown - - - - - DNA SEQ, SEQ-NG-S blood - retinal disease - PubMed: _Audo-2012 - - - - - - - - - 1 LOVD
+?/. 11 c.1481C>T r.(?) p.(Thr494Met) Unknown - likely pathogenic g.150316692C>T - c.1481C>T - PRPF3_000019 - PubMed: Kim-2012 - - Germline yes 1/336 cases; 0/360 controls - - - DNA PCR blood - retinal disease - PubMed: Kim-2012 - F - China - - - - - 1 LOVD
+?/. 11 c.1481C>T r.(?) p.(Thr494Met) Unknown - likely pathogenic g.150316692C>T - c.1481C>T - PRPF3_000019 - PubMed: Kim-2012 - - Germline yes 1/336 cases; 0/360 controls - - - DNA PCR blood - retinal disease - PubMed: Kim-2012 - F - China - - - - - 1 LOVD
+/. - c.1481C>T r.(?) p.(Thr494Met) Unknown - pathogenic g.150316692C>T g.150344216C>T PRPF3 c.1481C>T, p.Thr494Met - PRPF3_000019 heterozygous PubMed: Zampaglione 2020 - - Unknown ? - - - - DNA SEQ-NG-I, SEQ blood - retinal disease 099-025 PubMed: Zampaglione 2020 - ? - - - - - - - 1 LOVD
+?/. - c.1481C>T r.(?) p.(Thr494Met) Parent #1 - likely pathogenic g.150316692C>T g.150344216C>T PRPF3, variant 1: c.1481C>T/p.T494M - PRPF3_000019 solved, heterozygous PubMed: Weisschuh 2020 - - Unknown ? - - - - DNA SEQ-NG blood RET2 targeted sequencing panel - see paper retinal disease 788 PubMed: Weisschuh 2020 Filing key number: 307, autosomal dominant retinitis pigmentosa, no patient Ids, consecutive numbers given F - Germany - - - - - 1 LOVD
+/. 11 c.1481C>T r.(?) p.(Thr494Met) Paternal (inferred) ACMG pathogenic g.150316692C>T g.150344216C>T PRPF3 c.1481C > T, p.(T494M) - PRPF3_000019 heterozygous PubMed: Wang 2022 - - Germline/De novo (untested) ? - - - - DNA SEQ-NG, SEQ blood exome sequencing retinal disease 23188_II:2 PubMed: Wang 2022 family 23188, individual II:2; 2-generation family, 2 affected M - China Chinese - - - - 1 LOVD
+/. 11 c.1481C>T r.(?) p.(Thr494Met) Maternal (inferred) ACMG pathogenic g.150316692C>T g.150344216C>T PRPF3 c.1481C > T, p.(T494M) - PRPF3_000019 heterozygous PubMed: Wang 2022 - - Germline/De novo (untested) ? - - - - DNA SEQ-NG, SEQ blood exome sequencing retinal disease 4635_II:1 PubMed: Wang 2022 family 4635, individual II:1; 2-generation family, 2 affected M - China Chinese - - - - 1 LOVD
+/. 11 c.1481C>T r.(?) p.(Thr494Met) Unknown ACMG pathogenic g.150316692C>T g.150344216C>T PRPF3 c.1481C > T, p.(T494M) - PRPF3_000019 heterozygous PubMed: Wang 2022 - - Germline/De novo (untested) ? - - - - DNA SEQ-NG, SEQ blood exome sequencing retinal disease 20827_II:1 PubMed: Wang 2022 family 20827, individual II:1; parents healthy, untested F - China Chinese - - - - 1 LOVD
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