Full data view for gene PRPF31

This database is one of the "Eye disease" gene variant databases.
Information The variants shown are described using the NM_015629.3 transcript reference sequence.

14 entries on 1 page. Showing entries 1 - 14.
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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     

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Remarks     

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Data_av     

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Owner     
+?/. 1_14 c.-396-1_*287+1del r.spl? p.? Unknown - likely pathogenic (dominant) g.54618789_54635151del - E1-14del - PRPF31_000156 - PubMed: Liu-2020 - - Germline - - - - - DNA SEQ-NG, MLPA - hereditary eye disease enrichment panel (HEDEP) retinal disease - PubMed: Liu-2020 - M - - - - - - - 1 LOVD
+/. 1_14 c.0 r.spl? p.? Unknown - pathogenic g.54618789_54635151del - Deletion of exons 1–14 - PRPF31_000156 - PubMed: Eisenberger-2013 - - Germline - - - - - DNA SEQ-NG-I, SEQ-NG-R, SEQ blood - retinal disease - PubMed: Eisenberger-2013 - F no Germany - - - - - 1 LOVD
+?/. _1_14_ c.0 r.0 p.0 Unknown - likely pathogenic g.54602946_54635178del g.54099655_54131887del - - PRPF31_000156 deletion encompassing OSCAR (exon 1-2), NDUFA3, TFPT, PRPF31 PubMed: Martin-Merida 2018 - - Germline ? 1/258 - - - DNA SEQ-NG - +arrayCGH retinal disease RP-0777 PubMed: Martin-Merida 2018 - - - Spain - - - - - 1 LOVD
+?/. _1_14_ c.0 r.0 p.0 Unknown - likely pathogenic g.54602946_54632693del g.54099655_54129402del - - PRPF31_000156 deletion encompassing OSCAR (exon 1-2), NDUFA3, TFPT, PRPF31 PubMed: Martin-Merida 2018 - - Germline ? 1/258 - - - DNA MLPA - +arrayCGH retinal disease RP-0932 PubMed: Martin-Merida 2018 - - - Spain - - - - - 1 LOVD
+?/. _1_10_ c.0 r.0 p.0 Parent #1 - likely pathogenic (dominant) g.54577171_54630008del g.54073923_54126760del chr19:54577171_54630008del - PRPF31_000156 Heterozygous PubMed: Cho 2020 - - Unknown ? - - - - DNA SEQ-NG blood after negative whole exome sequencing, GeneDx Retinal dystrophy Xpanded gene panel (880 genes) retinal disease 22 PubMed: Cho 2020 - M - (United States) - - - - - 1 LOVD
+/. _1_14_ c.? r.(?) p.? Paternal (confirmed) - pathogenic (dominant) g.54602946_54635178del g.54099655_54131887del PRPF31 del chr19:54602946-54635178, deletion of OSCAR (E1 to E2), NDUFA3, TFPT and PRPF31 - PRPF31_000156 heterozygous PubMed: Martin-Merida 2017 - - Germline yes - - - - DNA SEQ-NG, SEQ blood whole exome sequencing retinal disease RP-0777_III:1 PubMed: Martin-Merida 2017 family RP-0777, individual III:1, proband M - Spain Spanish - - - - 1 LOVD
+/. _1_14_ c.? r.(?) p.? Unknown - pathogenic (dominant) g.54602946_54635178del g.54099655_54131887del PRPF31 del chr19:54602946-54635178, deletion of OSCAR (E1 to E2), NDUFA3, TFPT and PRPF31 - PRPF31_000156 heterozygous PubMed: Martin-Merida 2017 - - Germline/De novo (untested) - - - - - DNA SEQ blood - retinal disease RP-0777_II:4 PubMed: Martin-Merida 2017 family RP-0777, individual II:4, proband's father M - Spain Spanish - - - - 1 LOVD
+/. _1_2_ c.? r.(?) p.? Paternal (inferred) - pathogenic (dominant) g.54602946_54632693del g.54099655_54129402del PRPF31 del chr19:54602946-54632693, deletion of OSCAR (E1 to E2), NDUFA3, TFPT, and PRPF31 (E1 to 13) - PRPF31_000156 heterozygous PubMed: Martin-Merida 2017 - - Germline yes - - - - DNA SEQ-NG, MLPA blood - retinal disease RP-0932_III:12 PubMed: Martin-Merida 2017 family RP-0932, individual III:12, proband's father's paternal cousin F - Spain Spanish - - - - 1 LOVD
+/. _1_2_ c.? r.(?) p.? Maternal (confirmed) - pathogenic (dominant) g.54602946_54632693del g.54099655_54129402del PRPF31 del chr19:54602946-54632693, deletion of OSCAR (E1 to E2), NDUFA3, TFPT, and PRPF31 (E1 to 13) - PRPF31_000156 heterozygous PubMed: Martin-Merida 2017 - - Germline yes - - - - DNA SEQ-NG, MLPA blood - retinal disease RP-0932_IV:12 PubMed: Martin-Merida 2017 family RP-0932, individual IV:12, proband's father's paternal cousin's daughter F - Spain Spanish - - - - 1 LOVD
+?/. - c.? r.? p.? Parent #1 ACMG likely pathogenic (dominant) g.54627731_54636213del - - - PRPF31_000156 ACMG PM2, PVS1 PubMed: Weisschuh 2024 - - Germline - - - - - DNA SEQ-NG - WGS ? ADRP-353 PubMed: Weisschuh 2024 family, 3 affected F - Germany - - - - - 3 Johan den Dunnen
+/. - c.? r.? p.? Unknown ACMG pathogenic (dominant) g.54615301_54637092del - - - PRPF31_000156 ACMG PM2, PVS1, PP5 PubMed: Weisschuh 2024 - - Germline - - - - - DNA SEQ-NG - WGS ? ADRP-485 PubMed: Weisschuh 2024 family, 2 affected M - Germany - - - - - 2 Johan den Dunnen
+/. - c.? r.? p.? Unknown ACMG pathogenic (dominant) g.54617756_54622314del - - - PRPF31_000156 ACMG PM2, PVS1, PP5 PubMed: Weisschuh 2024 - - Germline - - - - - DNA SEQ-NG - WGS ? ADRP-490 PubMed: Weisschuh 2024 family, 2 affected F - Germany - - - - - 2 Johan den Dunnen
+?/. - c.? r.? p.? Unknown ACMG likely pathogenic (dominant) g.54616521_54620566delinsTGTA - - - PRPF31_000156 ACMG PM2, PVS1 PubMed: Weisschuh 2024 - - Germline/De novo (untested) - - - - - DNA SEQ-NG - WGS ? SRP-983 PubMed: Weisschuh 2024 patient, no family history F - Germany - - - - - 1 Johan den Dunnen
+?/. - c.? r.? p.? Unknown ACMG likely pathogenic (dominant) g.54602638_54636555del - - - PRPF31_000156 ACMG PM2, PVS1 PubMed: Weisschuh 2024 na - Germline - - - - - DNA SEQ-NG - WGS ? SRP-1139 PubMed: Weisschuh 2024 family, 2 affected F - Germany - - - - - 2 Johan den Dunnen
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