Full data view for gene PRPF4

Information The variants shown are described using the NM_004697.4 transcript reference sequence.

33 entries on 1 page. Showing entries 1 - 33.
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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     

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Frequency     

Re-site     

VIP     

Methylation     

Template     

Technique     

Tissue     

Remarks     

Disease     

ID_report     

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Remarks     

Gender     

Consanguinity     

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Age at death     

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Data_av     

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Owner     
+?/. - c.-96_-79del r.(?) p.? Paternal (inferred) - likely pathogenic g.116037928_116037945del g.113275648_113275665del PRPF4 c.-114_-97del - PRPF4_000025 error in annotation: most 3' nucleotide in a polynucleotide stretch rule switches the annotation from c.-114_-97del to c.-96_-79del; heterozygous; predicted to affect two transcription factor binding sites, down-regulates the promoter activity of PRPF4 by a luciferase assay, associated with a significant reduction of PRPF4 expression in the blood cells of the patie PubMed: Chen 2014 - - Germline yes 0/400 controls - - - DNA SEQ-NG, SEQ blood targeted sequence capture microarray - RD-189 array retinal disease S01 PubMed: Chen 2014 family S01 M - - white British - - - - 1 LOVD
?/. - c.? r.? p.? Unknown - VUS g.? - 1541C>T (Tr514Ile) - PTCH1_000000 - PubMed: Huang 2017 - - Germline - - - - - DNA SEQ-NG - WES retinal disease RP-145 PubMed: Huang 2017 patient - - China - - - - - 1 LOVD
?/. - c.194T>C r.(?) p.(Ile65Thr) Unknown - VUS g.116038991T>C g.113276711T>C - - PRPF4_000013 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 - rs781636554 Germline - 1/1204 cases with retinitis pigmentosa - - - DNA SEQ-NG - - retinal disease - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 analysis 1204 retinitis pigmentosa cases - - Japan - - - - - 1 Yoshito Koyanagi
-/. - c.233A>G r.(?) p.(His78Arg) Unknown - benign g.116041249A>G g.113278969A>G PRPF4(NM_004697.4):c.233A>G (p.H78R), PRPF4(NM_004697.5):c.233A>G (p.H78R) - PRPF4_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.233A>G r.(?) p.(His78Arg) Unknown - likely benign g.116041249A>G g.113278969A>G PRPF4(NM_004697.4):c.233A>G (p.H78R), PRPF4(NM_004697.5):c.233A>G (p.H78R) - PRPF4_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.396-7_396-6del r.(=) p.(=) Unknown - benign g.116044919_116044920del g.113282639_113282640del PRPF4(NM_004697.5):c.396-7_396-6delTT - PRPF4_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.396-7_396-6dup r.(=) p.(=) Unknown - benign g.116044919_116044920dup g.113282639_113282640dup PRPF4(NM_004697.5):c.396-7_396-6dupTT - PRPF4_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.396-6del r.(=) p.(=) Unknown - benign g.116044920del g.113282640del PRPF4(NM_004697.5):c.396-6delT - PRPF4_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.396-6dup r.(=) p.(=) Unknown - benign g.116044920dup g.113282640dup PRPF4(NM_004697.5):c.396-6dupT - PRPF4_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.420C>G r.(?) p.(Val140=) Unknown - benign g.116044950C>G g.113282670C>G PRPF4(NM_004697.5):c.420C>G (p.V140=) - PRPF4_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.464C>T r.(?) p.(Ser155Phe) Unknown - VUS g.116044994C>T g.113282714C>T - - PRPF4_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.468A>G r.(?) p.(Lys156=) Unknown - benign g.116044998A>G g.113282718A>G - - PRPF4_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.575G>A r.(?) p.(Arg192His) Unknown - VUS g.116045680G>A g.113283400G>A PRPF4 c.575G>A, p.R192H - PRPF4_000026 heterozygous; incomplete penetrance, III:2 (daughter) has the mutation but no signs of retinal degeneration); disrupts binding of PRPF4 to PRPF3; introduction of a corresponding mutation into the zebrafish homolog of PRPF4 resulted in a complete loss of function in vivo; functional null allele - haploinsufficiency, compromises the function of the tri-snRNP PubMed: Linder 2014 - - Germline ? - - - - DNA SSCA, SEQ blood - retinal disease RP-106_II:2 PubMed: Linder 2014 - F - Germany - - - - - 1 LOVD
-?/. - c.658-10del r.(=) p.(=) Unknown - likely benign g.116046565del g.113284285del PRPF4(NM_001322267.2):c.-111-10delT - PRPF4_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.781C>G r.(?) p.(Pro261Ala) Unknown - VUS g.116048540C>G g.113286260C>G - - PRPF4_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.931G>A r.(?) p.(Asp311Asn) Unknown - VUS g.116049104G>A g.113286824G>A - - PRPF4_000014 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 - rs201603947 Germline - 4/1204 cases with retinitis pigmentosa - - - DNA SEQ-NG - - retinal disease - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 analysis 1204 retinitis pigmentosa cases - - Japan - - - - - 4 Yoshito Koyanagi
+?/. - c.944C>T r.(?) p.(Pro315Leu) Paternal (inferred) - likely pathogenic g.116050463C>T g.113288183C>T PRPF4 c.C944T (p.Pro315Leu) - PRPF4_000027 heterozygous PubMed: Chen 2014 - - Germline yes 1/225 tested RP cases (1 family) - - - DNA SEQ-NG, SEQ blood targeted sequence capture microarray - RD-189 array retinal disease AD01-II:1 PubMed: Chen 2014 family AD01, individual II:1 F - - white British - - - - 1 LOVD
+?/. - c.944C>T r.(?) p.(Pro315Leu) Paternal (inferred) - likely pathogenic g.116050463C>T g.113288183C>T PRPF4 c.C944T (p.Pro315Leu) - PRPF4_000027 heterozygous PubMed: Chen 2014 - - Germline yes 1/225 tested RP cases (1 family) - - - DNA SEQ-NG, SEQ blood targeted sequence capture microarray - RD-189 array retinal disease AD01-II:3 PubMed: Chen 2014 family AD01, individual II:3 M - - white British - - - - 1 LOVD
+?/. - c.944C>T r.(?) p.(Pro315Leu) Paternal (inferred) - likely pathogenic g.116050463C>T g.113288183C>T PRPF4 c.C944T (p.Pro315Leu) - PRPF4_000027 heterozygous PubMed: Chen 2014 - - Germline yes 1/225 tested RP cases (1 family) - - - DNA SEQ-NG, SEQ blood targeted sequence capture microarray - RD-189 array retinal disease AD01-II:6 PubMed: Chen 2014 family AD01, individual II:6 M - - white British - - - - 1 LOVD
+?/. - c.944C>T r.(?) p.(Pro315Leu) Paternal (confirmed) - likely pathogenic g.116050463C>T g.113288183C>T PRPF4 c.C944T (p.Pro315Leu) - PRPF4_000027 heterozygous PubMed: Chen 2014 - - Germline yes 1/225 tested RP cases (1 family) - - - DNA SEQ-NG, SEQ blood targeted sequence capture microarray - RD-189 array retinal disease AD01-III:4 PubMed: Chen 2014 family AD01, individual III:4 M - - white British - - - - 1 LOVD
+?/. - c.944C>T r.(?) p.(Pro315Leu) Unknown ACMG likely pathogenic (dominant) g.116050463C>T g.113288183C>T - - PRPF4_000027 ACMG PM2, PP5_STRONG PubMed: Weisschuh 2024 143057 - Germline/De novo (untested) - - - - - DNA SEQ-NG - WGS ? SRP-1130 PubMed: Weisschuh 2024 patient, no family history M - Germany - - - - - 1 Johan den Dunnen
-/. - c.981G>A r.(?) p.(Ala327=) Unknown - benign g.116050500G>A g.113288220G>A PRPF4(NM_004697.5):c.981G>A (p.A327=) - PRPF4_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1006C>T r.(?) p.(Arg336Cys) Unknown ACMG VUS g.116050525C>T g.113288245C>T PRPF4:NM_004697 c.C1006T, p.R336C - PRPF4_000022 heterozygous, individual unsolved, causality of variants unknown PubMed: Rodriguez-Munoz 2020 - - Germline ? - - - - DNA SEQ-NG-I blood - retinal disease RPN-452 PubMed: Rodriguez-Munoz 2020 - ? - Spain - - - - - 1 LOVD
-/. - c.1025+6C>T r.(=) p.(=) Unknown - benign g.116050550C>T g.113288270C>T PRPF4(NM_004697.5):c.1025+6C>T - PRPF4_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. 12 c.1241A>G r.(?) p.(Asn414Ser) Unknown - VUS g.116053072A>G - PRPF4:c.1241A>G - PRPF4_000023 - PubMed: Colombo-2020 - rs775720412 Germline - - - - - DNA SEQ - - retinal disease - PubMed: Colombo-2020 - M no - - - - - - 1 LOVD
-?/. - c.1257-20A>G r.(=) p.(=) Unknown - likely benign g.116053158A>G - PRPF4(NM_001322267.2):c.528-20A>G - PRPF4_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1315C>T r.(?) p.(Arg439Trp) Unknown - VUS g.116053236C>T g.113290956C>T PRPF4(NM_001322267.1):c.586C>T (p.R196W) - PRPF4_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1331C>T r.(?) p.(Thr444Ile) Unknown - VUS g.116053252C>T - PRPF4(NM_001322267.1):c.602C>T (p.T201I) - PRPF4_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1375+16A>G r.(=) p.(=) Unknown - benign g.116053312A>G g.113291032A>G PRPF4(NM_004697.5):c.1375+16A>G - PRPF4_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1452G>A r.(?) p.(Pro484=) Unknown - benign g.116053823G>A g.113291543G>A PRPF4(NM_004697.5):c.1452G>A (p.P484=) - PRPF4_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1538A>G r.(?) p.(Asp513Gly) Unknown - VUS g.116053909A>G - PRPF4(NM_001322267.2):c.809A>G (p.D270G) - PRPF4_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1538A>G r.(?) p.(Asp513Gly) Unknown - VUS g.116053909A>G - PRPF4(NM_001322267.2):c.809A>G (p.D270G) - PRPF4_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*6272G>A r.(=) p.(=) Unknown - likely benign g.116060212G>A g.113297932G>A RNF183(NM_145051.3):c.253C>T (p.(Arg85Cys)) - PRPF4_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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