All variants in the PRPF3 gene

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.

36 entries on 1 page. Showing entries 1 - 36.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

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     

Owner     
-/. - c.-48-5_-48-3del r.spl? p.? - benign g.150297348_150297350del g.150324890_150324892del PRPF3(NM_004698.3):c.-48-5_-48-3delTTT - PRPF3_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_AMC
-/. - c.-48-4_-48-3del r.spl? p.? - benign g.150297349_150297350del g.150324891_150324892del PRPF3(NM_004698.3):c.-48-4_-48-3delTT - PRPF3_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_AMC
-/. - c.-48-3del r.spl? p.? - benign g.150297350del g.150324892del PRPF3(NM_004698.3):c.-48-3delT - PRPF3_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_AMC
-?/. - c.-48-2del r.spl? p.? - likely benign g.150297351del g.150324893del PRPF3(NM_004698.3):c.-48-2delA - PRPF3_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
?/. - c.86C>T r.(?) p.(Thr29Met) - VUS g.150297486C>T g.150325028C>T - - PRPF3_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
?/. - c.146-18C>T r.(=) p.(=) - VUS g.150298191C>T g.150325733C>T PRPF3(NM_001350529.1):c.-356-18C>T - PRPF3_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. - c.780G>A r.(?) p.(Glu260=) - likely benign g.150307457G>A g.150334986G>A PRPF3(NM_004698.3):c.780G>A (p.E260=) - PRPF3_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.957T>C r.(?) p.(Pro319=) - likely benign g.150307634T>C g.150335163T>C PRPF3(NM_001350529.1):c.552T>C (p.P184=) - PRPF3_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.1024T>C r.(?) p.(Leu342=) - likely benign g.150307701T>C g.150335230T>C PRPF3(NM_004698.3):c.1024T>C (p.L342=) - PRPF3_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. - c.1101G>A r.(?) p.(Ser367=) - benign g.150310701G>A g.150338225G>A PRPF3(NM_004698.3):c.1101G>A (p.S367=) - PRPF3_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
?/. - c.1112C>T r.(?) p.(Ala371Val) - VUS g.150310712C>T g.150338236C>T PRPF3(NM_004698.3):c.1112C>T (p.A371V) - PRPF3_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
?/. - c.1195T>A r.(?) p.(Phe399Ile) - VUS g.150310795T>A g.150338319T>A PRPF3(NM_004698.3):c.1195T>A (p.F399I) - PRPF3_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. - c.1283-60_1283-57del r.spl p.? - pathogenic g.150315739_150315742del g.150343263_150343266del 1283-60_1283-57delATAT - PRPF3_000036 - PubMed: Bravo-Gil 2016 - - Germline - - - 0 - -
+/. - c.1283-2A>G r.spl? p.? - pathogenic g.150315783A>G g.150343307A>G - - PRPF3_000021 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 - - Germline - 1/1203 cases with retinitis pigmentosa - 0 - Yoshito Koyanagi
?/. - c.1407G>A r.(?) p.(Met469Ile) - VUS g.150315909G>A g.150343433G>A - - PRPF3_000022 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 - rs587594838 Germline - 1/1203 cases with retinitis pigmentosa - 0 - Yoshito Koyanagi
?/. - c.1477C>G r.(?) p.(Pro493Ala) - VUS g.150316688C>G g.150344212C>G - - PRPF3_000023 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 - - Germline - 1/1204 cases with retinitis pigmentosa - 0 - Yoshito Koyanagi
+/. 11 c.1477C>T r.(?) p.(Pro493Ser) - pathogenic g.150316688C>T - 1477C>T - PRPF3_000034 - PubMed: Sullivan 2006 - - Germline yes - - 0 - Julia Lopez
+?/. - c.1480A>G r.(?) p.(Thr494Ala) ACMG likely pathogenic (dominant) g.150316691A>G g.150344215A>G - - PRPF3_000035 - PubMed: Roberts 2016 - - Germline - - - 0 - -
+/. - c.1481C>T r.(?) p.(Thr494Met) - pathogenic g.150316692C>T g.150344216C>T - - PRPF3_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
+/. - c.1481C>T r.(?) p.(Thr494Met) ACMG pathogenic g.150316692C>T - - - PRPF3_000019 - PubMed: Sharon 2019 - - Germline - 2/2420 IRD families - 0 - Global Variome, with Curator vacancy
+/. 11 c.1481C>T r.(?) p.(Thr494Met) - pathogenic (dominant) g.150316692C>T - 1482C>T / T494M - PRPF3_000019 - PubMed: Martínez-Gimeno 2003 - - Germline yes - - 0 - Julia Lopez
+?/. - c.1481C>T r.(?) p.(Thr494Met) - likely pathogenic g.150316692C>T g.150344216C>T - - PRPF3_000019 - PubMed: Stone 2017 - - Germline - - - 0 - -
+?/. - c.1481C>T r.(?) p.(Thr494Met) - likely pathogenic g.150316692C>T g.150344216C>T - - PRPF3_000019 - PubMed: Stone 2017 - - Germline - - - 0 - -
+/. 11 c.1481C>T r.(?) p.(Thr494Met) - pathogenic g.150316692C>T - 1481C>T - PRPF3_000019 - PubMed: Sullivan 2006 - - Germline yes - - 0 - Julia Lopez
+/. - c.1481C>T r.(?) p.(Thr494Met) - pathogenic (dominant) g.150316692C>T - - - PRPF3_000019 - PubMed: Beryozkin 2015, PubMed: Sharon 2019 - - Germline - 2/2420 IRD families - 0 - Global Variome, with Curator vacancy
+/. - c.1481C>T r.(?) p.(Thr494Met) - pathogenic (dominant) g.150316692C>T g.150344216C>T - - PRPF3_000019 - PubMed: Xu 2014 - - Germline - - - 0 - -
-/. - c.1526+14G>T r.(=) p.(=) - benign g.150316751G>T g.150344275G>T PRPF3(NM_004698.3):c.1526+14G>T - PRPF3_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_AMC
?/. - c.1529C>T r.(?) p.(Ala510Val) - VUS g.150316912C>T g.150344436C>T - - PRPF3_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
?/. - c.1538A>G r.(?) p.(Glu513Gly) - VUS g.150316921A>G g.150344445A>G PRPF3(NM_001350529.1):c.1133A>G (p.E378G) - PRPF3_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.1897G>C r.(?) p.(Val633Leu) - VUS g.150321686G>C g.150349210G>C - - PRPF3_000024 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 - rs141881079 Germline - 1/1204 cases with retinitis pigmentosa - 0 - Yoshito Koyanagi
-?/. - c.1897G>C r.(?) p.(Val633Leu) - likely benign g.150321686G>C g.150349210G>C PRPF3(NM_004698.3):c.1897G>C (p.V633L) - PRPF3_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
?/. - c.1905+6T>G r.(=) p.(=) - VUS g.150321700T>G g.150349224T>G - - PRPF3_000037 - PubMed: Xu 2014 - - Germline - 1/314 case chromosomes - 0 - -
-?/. - c.1922G>A r.(?) p.(Arg641Gln) - likely benign g.150325325G>A g.150352849G>A - - PRPF3_000038 - PubMed: Fernandez-San Jose 2015 - rs201590000 Germline - - - 0 - -
-?/. - c.1985A>G r.(?) p.(Lys662Arg) - likely benign g.150325388A>G - PRPF3(NM_001350529.1):c.1580A>G (p.K527R) - PRPF3_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.2002C>T r.(?) p.(His668Tyr) - VUS g.150325405C>T g.150352929C>T PRPF3(NM_004698.3):c.2002C>T (p.H668Y) - PRPF3_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-?/. - c.*18G>T r.(=) p.(=) - likely benign g.150325473G>T g.150352997G>T PRPF3(NM_004698.3):c.*18G>T - PRPF3_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
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