Full data view for gene PRPH2

This database is one of the "Eye disease" gene variant databases.
Information The variants shown are described using the NM_000322.4 transcript reference sequence.

23 entries on 1 page. Showing entries 1 - 23.
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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     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age at death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
+/. 1 c.535T>C r.(?) p.(Trp179Arg) Parent #1 ACMG pathogenic (dominant) g.42689538A>G g.42721800A>G - - PRPH2_000144 - PubMed: Van Cauwenbergh 2017 - - Germline - - - - - DNA SEQ-NG - - retinal disease FAM_041 PubMed: Van Cauwenbergh 2017 - - - Belgium - - - - - 1 LOVD
+?/. 1 c.535T>C r.(?) p.(Trp179Arg) Unknown ACMG likely pathogenic g.42689538A>G g.42721800A>G - - PRPH2_000144 ACMG PM1, PM2, PP1, PP3 PubMed: Peeters 2021, Journal: Peeters 2021 - rs61755796 SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
+?/+? 1 c.535T>C r.(?) p.(Trp179Arg) Unknown - likely pathogenic (dominant) g.42689538A>G g.42721800A>G c.535T>C; W179R - PRPH2_000144 - PubMed: Bareil 2000, PubMed: Peeters 2021, Journal: Peeters 2021 - rs61755796 Germline yes - MspA1I+ - - DNA PCR, SEQ blood - retinal disease Family_1_patient_1 PubMed: Bareil 2000 index case not indicated, family_1_patient_1 till family_1_patient_10 belong to same family - no France white - - - - 1 Manon Peeters
+?/+? 1 c.535T>C r.(?) p.(Trp179Arg) Unknown - likely pathogenic (dominant) g.42689538A>G g.42721800A>G c.535T>C; W179R - PRPH2_000144 - PubMed: Bareil 2000, PubMed: Peeters 2021, Journal: Peeters 2021 - rs61755796 Germline yes - MspA1I+ - - DNA PCR, SEQ blood - retinal disease Family_1_patient_2 PubMed: Bareil 2000 index case not indicated, family_1_patient_1 till family_1_patient_10 belong to same family - no France white - - - - 1 Manon Peeters
+?/+? 1 c.535T>C r.(?) p.(Trp179Arg) Unknown - likely pathogenic (dominant) g.42689538A>G g.42721800A>G c.535T>C; W179R - PRPH2_000144 - PubMed: Bareil 2000, PubMed: Peeters 2021, Journal: Peeters 2021 - rs61755796 Germline yes - MspA1I+ - - DNA PCR, SEQ blood - retinal disease Family_1_patient_3 PubMed: Bareil 2000 index case not indicated, family_1_patient_1 till family_1_patient_10 belong to same family - no France white - - - - 1 Manon Peeters
+?/+? 1 c.535T>C r.(?) p.(Trp179Arg) Unknown - likely pathogenic (dominant) g.42689538A>G g.42721800A>G c.535T>C; W179R - PRPH2_000144 - PubMed: Bareil 2000, PubMed: Peeters 2021, Journal: Peeters 2021 - rs61755796 Germline yes - MspA1I+ - - DNA PCR, SEQ blood - retinal disease Family_1_patient_4 PubMed: Bareil 2000 index case not indicated, family_1_patient_1 till family_1_patient_10 belong to same family - no France white - - - - 1 Manon Peeters
+?/+? 1 c.535T>C r.(?) p.(Trp179Arg) Unknown - likely pathogenic (dominant) g.42689538A>G g.42721800A>G c.535T>C; W179R - PRPH2_000144 - PubMed: Bareil 2000, PubMed: Peeters 2021, Journal: Peeters 2021 - rs61755796 Germline yes - MspA1I+ - - DNA PCR, SEQ blood - retinal disease Family_1_patient_5 PubMed: Bareil 2000 index case not indicated, family_1_patient_1 till family_1_patient_10 belong to same family - no France white - - - - 1 Manon Peeters
+?/+? 1 c.535T>C r.(?) p.(Trp179Arg) Unknown - likely pathogenic (dominant) g.42689538A>G g.42721800A>G c.535T>C; W179R - PRPH2_000144 - PubMed: Bareil 2000, PubMed: Peeters 2021, Journal: Peeters 2021 - rs61755796 Germline yes - MspA1I+ - - DNA PCR, SEQ blood - retinal disease Family_1_patient_6 PubMed: Bareil 2000 index case not indicated, family_1_patient_1 till family_1_patient_10 belong to same family - no France white - - - - 1 Manon Peeters
+?/+? 1 c.535T>C r.(?) p.(Trp179Arg) Unknown - likely pathogenic (dominant) g.42689538A>G g.42721800A>G c.535T>C; W179R - PRPH2_000144 - PubMed: Bareil 2000, PubMed: Peeters 2021, Journal: Peeters 2021 - rs61755796 Germline yes - MspA1I+ - - DNA PCR, SEQ blood - retinal disease Family_1_patient_7 PubMed: Bareil 2000 index case not indicated, family_1_patient_1 till family_1_patient_10 belong to same family - no France white - - - - 1 Manon Peeters
+?/+? 1 c.535T>C r.(?) p.(Trp179Arg) Unknown - likely pathogenic (dominant) g.42689538A>G g.42721800A>G c.535T>C; W179R - PRPH2_000144 - PubMed: Bareil 2000, PubMed: Peeters 2021, Journal: Peeters 2021 - rs61755796 Germline yes - MspA1I+ - - DNA PCR, SEQ blood - retinal disease Family_1_patient_8 PubMed: Bareil 2000 index case not indicated, family_1_patient_1 till family_1_patient_10 belong to same family - no France white - - - - 1 Manon Peeters
+?/+? 1 c.535T>C r.(?) p.(Trp179Arg) Unknown - likely pathogenic (dominant) g.42689538A>G g.42721800A>G c.535T>C; W179R - PRPH2_000144 - PubMed: Bareil 2000, PubMed: Peeters 2021, Journal: Peeters 2021 - rs61755796 Germline yes - MspA1I+ - - DNA PCR, SEQ blood - retinal disease Family_1_patient_9 PubMed: Bareil 2000 index case not indicated, family_1_patient_1 till family_1_patient_10 belong to same family - no France white - - - - 1 Manon Peeters
+?/+? 1 c.535T>C r.(?) p.(Trp179Arg) Unknown - likely pathogenic (dominant) g.42689538A>G g.42721800A>G c.535T>C; W179R - PRPH2_000144 - PubMed: Bareil 2000, PubMed: Peeters 2021, Journal: Peeters 2021 - rs61755796 Germline yes - MspA1I+ - - DNA PCR, SEQ blood - retinal disease Family_1_patient_10 PubMed: Bareil 2000 index case not indicated, family_1_patient_1 till family_1_patient_10 belong to same family - no France white - - - - 1 Manon Peeters
+?/+? 1 c.535T>C r.(?) p.(Trp179Arg) Unknown - likely pathogenic (dominant) g.42689538A>G g.42721800A>G c.535T>C; p.Trp179Arg - PRPH2_000144 - PubMed: Manes 2015, PubMed: Peeters 2021, Journal: Peeters 2021 - rs61755796 Germline yes 2/310 cases MspA1I+ - - DNA PCR, SEQ blood - retinal disease PHRC156_I:2 PubMed: Manes 2015 index case, mother of PHRC156_II:3 F no France white - - - - 1 Manon Peeters
+?/+? 1 c.535T>C r.(?) p.(Trp179Arg) Maternal (confirmed) - likely pathogenic (dominant) g.42689538A>G g.42721800A>G c.535T>C; p.Trp179Arg - PRPH2_000144 - PubMed: Manes 2015, PubMed: Peeters 2021, Journal: Peeters 2021 - rs61755796 Germline yes 2/310 cases MspA1I+ - - DNA PCR, SEQ blood - retinal disease PHRC156_II:3 PubMed: Manes 2015 Daughter of index case F no France white - - - - 1 Manon Peeters
+?/+? 1 c.535T>C r.(?) p.(Trp179Arg) Maternal (inferred) - likely pathogenic (dominant) g.42689538A>G g.42721800A>G c.535T>C; p.Trp179Arg - PRPH2_000144 - PubMed: Manes 2015, PubMed: Peeters 2021, Journal: Peeters 2021 - rs61755796 Germline yes 2/310 cases MspA1I+ - - DNA PCR, SEQ blood - retinal disease PHRC233_II:2 PubMed: Manes 2015 index case, brother of PHRC233_II:3, father of PHRC233_III:2 M no France white - - - - 1 Manon Peeters
+?/+? 1 c.535T>C r.(?) p.(Trp179Arg) Maternal (inferred) - likely pathogenic (dominant) g.42689538A>G g.42721800A>G c.535T>C; p.Trp179Arg - PRPH2_000144 - PubMed: Manes 2015, PubMed: Peeters 2021, Journal: Peeters 2021 - rs61755796 Germline yes 2/310 cases MspA1I+ - - DNA PCR, SEQ blood - retinal disease PHRC233_II:3 PubMed: Manes 2015 Brother of index case, uncle of PHRC233_III:2 M no France white - - - - 1 Manon Peeters
+?/+? 1 c.535T>C r.(?) p.(Trp179Arg) Paternal (confirmed) - likely pathogenic (dominant) g.42689538A>G g.42721800A>G c.535T>C; p.Trp179Arg - PRPH2_000144 - PubMed: Manes 2015, PubMed: Peeters 2021, Journal: Peeters 2021 - rs61755796 Germline yes 2/310 cases MspA1I+ - - DNA PCR, SEQ blood - retinal disease PHRC233_III:2 PubMed: Manes 2015 Son of index case, cousin of PHRC233_II:3 M no France white - - - - 1 Manon Peeters
+/+? 1 c.535T>C r.(?) p.(Trp179Arg) Unknown - pathogenic (dominant) g.42689538A>G g.42721800A>G c.535T>C; p.(Trp179Arg) - PRPH2_000144 - PubMed: Van Cauwenbergh 2017, PubMed: Peeters 2021, Journal: Peeters 2021 - rs61755796 Germline - 1/86 MspA1I+ - - DNA PCR, SEQ, SEQ-NG blood - retinal disease FAM_041 PubMed: Van Cauwenbergh 2017 index case - - Belgium white - - - - 1 Manon Peeters
+?/+? 1 c.535T>C r.(?) p.(Trp179Arg) Unknown - likely pathogenic (dominant) g.42689538A>G g.42721800A>G c.535T>C; p.Trp179Arg - PRPH2_000144 - PubMed: Reeves 2020, PubMed: Peeters 2021, Journal: Peeters 2021 - rs61755796 Unknown - 1/187 MspA1I+ - - DNA PCR, SEQ, SEQ-NG-I blood - retinal disease 20 PubMed: Reeves 2020 index case F - United States (white) - - - - 1 Manon Peeters
+/. - c.535T>C r.(?) p.(Trp179Arg) Unknown - pathogenic (dominant) g.42689538A>G g.42721800A>G - - PRPH2_000144 - PubMed: Xu 2014 - - Germline - - - - - DNA SEQ-NG - gene panel retinal disease RP325 PubMed: Xu 2014 family M - China - - - - - 1 LOVD
?/. - c.535T>C r.(?) p.(Trp179Arg) Unknown ACMG VUS g.42689538A>G g.42721800A>G PRPH2 c.T535C, p.W179R - PRPH2_000144 marked as causative, heterozygous PubMed: Ma 2021 - - Unknown ? - - - - DNA SEQ-NG-I, SEQ - whole exome sequencing retinal disease 130 PubMed: Ma 2021 - ? - Korea - - - - - 1 LOVD
+/. 1 c.535T>C r.(?) p.(Trp179Arg) Unknown - pathogenic (dominant) g.42689538A>G - c.535T>C - PRPH2_000144 - PubMed: Colombo-2020 - rs61755796 Germline - - - - - DNA SEQ - - retinal disease - PubMed: Colombo-2020 - M no - - - - - - 1 LOVD
+/. 1 c.535T>C r.(?) p.(Trp179Arg) Unknown - pathogenic g.42689538A>G - c.535T>C - PRPH2_000144 - PubMed: Panneman 2023 - - Unknown - - - - - DNA SEQ - RP-LCA smMIPs sequencing RP - PubMed: Panneman 2023 - F - - - - - - - 1 Daan Panneman
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