Full data view for gene RP1

This database is one of the "Eye disease" gene variant databases.
Information The variants shown are described using the NM_006269.1 transcript reference sequence.

41 entries on 1 page. Showing entries 1 - 41.
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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     
+/. 4 c.1625C>G r.(?) p.(Ser542*) Paternal (inferred) - pathogenic g.55538067C>G g.54625507C>G - - RP1_000098 - PubMed: Avila-Fernandez 2012 - - Germline - - - - - DNA SEQ - - retinal disease - PubMed: Avila-Fernandez 2012 - F ? Spain Spain - - - - 1 Almudena Avila-Fernandez
+/. 4 c.1625C>G r.(?) p.(Ser542*) Maternal (inferred) - pathogenic g.55538067C>G g.54625507C>G - - RP1_000098 - PubMed: Avila-Fernandez 2012 - - Germline - - - - - DNA SEQ - - retinal disease - PubMed: Avila-Fernandez 2012 - F ? Spain Spain - - - - 1 Almudena Avila-Fernandez
+/. 4 c.1625C>G r.(?) p.(Ser542*) Paternal (inferred) - pathogenic g.55538067C>G g.54625507C>G - - RP1_000098 - PubMed: Avila-Fernandez 2012 - - Germline - - - - - DNA SEQ - - retinal disease - PubMed: Avila-Fernandez 2012 - M - Spain Spain - - - - 1 Almudena Avila-Fernandez
+/. 4 c.1625C>G r.(?) p.(Ser542*) Maternal (inferred) - pathogenic g.55538067C>G g.54625507C>G - - RP1_000098 - PubMed: Avila-Fernandez 2012 - - Germline - - - - - DNA SEQ - - retinal disease - PubMed: Avila-Fernandez 2012 - M - Spain Spain - - - - 1 Almudena Avila-Fernandez
+/. 4 c.1625C>G r.(?) p.(Ser542*) Paternal (inferred) - pathogenic g.55538067C>G g.54625507C>G - - RP1_000098 - PubMed: Avila-Fernandez 2012 - - Germline - - - - - DNA SEQ - - retinal disease - PubMed: Avila-Fernandez 2012 - M - Spain Spain - - - - 1 Almudena Avila-Fernandez
+/. 4 c.1625C>G r.(?) p.(Ser542*) Maternal (inferred) - pathogenic g.55538067C>G g.54625507C>G - - RP1_000098 - PubMed: Avila-Fernandez 2012 - - Germline - - - - - DNA SEQ - - retinal disease - PubMed: Avila-Fernandez 2012 - M - Spain Spain - - - - 1 Almudena Avila-Fernandez
+?/. - c.1625C>G r.(?) p.(Ser542Ter) Parent #1 - likely pathogenic g.55538067C>G g.54625507C>G - - RP1_000098 - PubMed: Bravo-Gil 2017 - - Germline yes - - - - DNA SEQ-NG - 68-gene panel retinal disease Pat10 PubMed: Bravo-Gil 2017 family - - Spain - - - - - 1 Nereida Bravo Gil
+?/. - c.1625C>G r.(?) p.(Ser542Ter) Parent #1 - likely pathogenic g.55538067C>G g.54625507C>G - - RP1_000098 - PubMed: Bravo-Gil 2017 - - Germline - - - - - DNA SEQ-NG - 68-gene panel retinal disease Pat49 PubMed: Bravo-Gil 2017 patient - - Spain - - - - - 1 Nereida Bravo Gil
+?/. - c.1625C>G r.(?) p.(Ser542Ter) Parent #2 - likely pathogenic g.55538067C>G g.54625507C>G - - RP1_000098 - PubMed: Bravo-Gil 2017 - - Germline - - - - - DNA SEQ-NG - 68-gene panel retinal disease Pat49 PubMed: Bravo-Gil 2017 patient - - Spain - - - - - 1 Nereida Bravo Gil
+/. - c.1625C>G r.(?) p.(Ser542Ter) Parent #1 ACMG pathogenic (recessive) g.55538067C>G g.54625507C>G c.C1625G - RP1_000098 - PubMed: Zhang 2016 - - Germline - - - - - DNA SEQ-NG - 226-gene panel retinal disease BLM074 PubMed: Zhang 2016 family M - United States Hispanic - - - - 1 LOVD
+/. - c.1625C>G r.(?) p.(Ser542*) Both (homozygous) - pathogenic (recessive) g.55538067C>G g.54625507C>G - - RP1_000098 - PubMed: Tiwari 2016 - - Germline - - - - - DNA SEQ-NG - WES retinal disease Case71471 PubMed: Tiwari 2016 see paper F - Switzerland - - - - - 1 LOVD
+?/. - c.1625C>G r.(?) p.(Ser542*) Maternal (confirmed) - likely pathogenic g.55538067C>G g.54625507C>G NM_006269, c.1625C>G, p.Ser542Ter - RP1_000098 - PubMed: Ezquerra-Inchausti 2018 - - Germline yes - - - - DNA SEQ-NG blood - retinal disease II:1 PubMed: Ezquerra-Inchausti 2018 Family RP30, II:1 ? no Spain - - - - - 1 LOVD
+?/. 4 c.1625C>G r.(?) p.(Ser542*) Both (homozygous) - likely pathogenic g.55538067C>G g.54625507C>G - - RP1_000098 - PubMed: Perez-Carro 2018 - - Germline yes - - - - DNA SEQ blood - retinal disease RP-0551 PubMed: Perez-Carro 2018 family RP-0551 M no Spain - - - - - 1 LOVD
+/. 4 c.1625C>G r.(?) p.(Ser542*) Unknown - pathogenic g.55538067C>G - c.1625C.G - RP1_000098 - PubMed: Corton-2013 - - Germline - - - - - DNA SEQ-NG blood WES retinal disease P-1601 PubMed: Corton-2013 - - no - Spanish - - - - 1 LOVD
+?/. 4 c.1625C>G r.(?) p.(Ser542*) Unknown - likely pathogenic g.55538067C>G g.54625507C>G RP1 Ex.4 c.1625C>G p.(Ser542*), Ex.4 c.1625C>G p.(Ser542*), USH2A: p.(Cys3267Arg) Ex.50 c.9799T>C - RP1_000098 homozygous PubMed: Martin Merida 2019 - - Germline yes - - - - DNA arraySNP, SEQ - - retinal disease RP-0435 PubMed: Martin Merida 2019 - ? - Spain - - - - - 1 LOVD
+?/. 4 c.1625C>G r.(?) p.(Ser542*) Unknown - likely pathogenic g.55538067C>G g.54625507C>G RP1 Ex.4 c.1625C>G p.(Ser542*), Ex.4 c.1625C>G p.(Ser542*), USH2A: p.(Cys759Phe) Ex.13 c.2276G>T - RP1_000098 homozygous PubMed: Martin Merida 2019 - - Germline yes - - - - DNA arraySNP - - retinal disease RP-0551 PubMed: Martin Merida 2019 - ? - Spain - - - - - 1 LOVD
+?/. 4 c.1625C>G r.(?) p.(Ser542*) Both (homozygous) - likely pathogenic g.55538067C>G g.54625507C>G RP1 Ex.4 c.1625C>G p.(Ser542*), Ex.4 c.1625C>G p.(Ser542*) - RP1_000098 homozygous PubMed: Martin Merida 2019 - - Germline yes - - - - DNA SEQ-NG-I - - retinal disease RP-0990 PubMed: Martin Merida 2019 - ? - Spain - - - - - 1 LOVD
+?/. 4 c.1625C>G r.(?) p.(Ser542*) Both (homozygous) - likely pathogenic g.55538067C>G g.54625507C>G RP1 Ex.4 c.1625C>G p.(Ser542*), Ex.4 c.1625C>G p.(Ser542*) - RP1_000098 homozygous PubMed: Martin Merida 2019 - - Germline yes - - - - DNA arraySNP, SEQ - - retinal disease RP-1061 PubMed: Martin Merida 2019 - ? - Spain - - - - - 1 LOVD
+?/. 4 c.1625C>G r.(?) p.(Ser542*) Unknown - likely pathogenic g.55538067C>G g.54625507C>G RP1 Ex.4 c.1625C>G p.(Ser542*), Ex.2 c.149_168delinsAGACCCCCAATT p.(Gly50Glufs*9) - RP1_000098 compound heterozygous PubMed: Martin Merida 2019 - - Germline yes - - - - DNA arraySNP, SEQ - - retinal disease RP-1537 PubMed: Martin Merida 2019 - ? - Spain - - - - - 1 LOVD
+?/. 4 c.1625C>G r.(?) p.(Ser542*) Both (homozygous) - likely pathogenic g.55538067C>G g.54625507C>G RP1 Ex.4 c.1625C>G p.(Ser542*), Ex.4 c.1625C>G p.(Ser542*) - RP1_000098 homozygous PubMed: Martin Merida 2019 - - Germline yes - - - - DNA SEQ-NG-I - - retinal disease RP-1610 PubMed: Martin Merida 2019 - ? - Spain - - - - - 1 LOVD
+?/. 4 c.1625C>G r.(?) p.(Ser542*) Both (homozygous) - likely pathogenic g.55538067C>G g.54625507C>G RP1 Ex.4 c.1625C>G p.(Ser542*), Ex.4 c.1625C>G p.(Ser542*) - RP1_000098 homozygous PubMed: Martin Merida 2019 - - Germline/De novo (untested) ? - - - - DNA SEQ-NG-I - - retinal disease RP-1896 PubMed: Martin Merida 2019 - ? - Spain - - - - - 1 LOVD
+?/. 4 c.1625C>G r.(?) p.(Ser542*) Unknown - likely pathogenic g.55538067C>G g.54625507C>G RP1 Ex.4 c.1625C>G p.(Ser542*), Ex.4 c.2816del p.(Arg939Lysfs*7) - RP1_000098 compound heterozygous PubMed: Martin Merida 2019 - - Germline yes - - - - DNA SEQ-NG-I - - retinal disease RP-2224 PubMed: Martin Merida 2019 - ? - Spain - - - - - 1 LOVD
+?/. - c.1625C>G r.(?) p.(Ser542*) Both (homozygous) ACMG likely pathogenic g.55538067C>G g.54625507C>G RP1 c.1625C>G, p.(Ser542*) - RP1_000098 homozygous PubMed: Dineiro 2020 - - Germline ? - - - - DNA SEQ-NG-I, SEQ blood, saliva targeted sequencing with 1 of 4 panels of OFTALMOgenics probes retinal disease OFTALMO.004 PubMed: Dineiro 2020 - ? - Spain - - - - - 1 LOVD
+?/. - c.1625C>G r.(?) p.(Ser542*) Unknown ACMG likely pathogenic g.55538067C>G g.54625507C>G RP1 c.1625C>G, p.(Ser542*) - RP1_000098 heterozygous PubMed: Dineiro 2020 - - Germline ? - - - - DNA SEQ-NG-I, SEQ blood, saliva targeted sequencing with 1 of 4 panels of OFTALMOgenics probes retinal disease OFTALMO.031 PubMed: Dineiro 2020 - ? - Spain - - - - - 1 LOVD
+?/. - c.1625C>G r.(?) p.(Ser542*) Parent #1 - likely pathogenic g.55538067C>G g.54625507C>G RP1, variant 1: c.1625C>G/p.S542*, variant 2: c.1625C>G/p.S542* - RP1_000098 solved, homozygous PubMed: Weisschuh 2020 - - Unknown ? - - - - DNA SEQ-NG blood RET2 targeted sequencing panel - see paper retinal disease 149 PubMed: Weisschuh 2020 Filing key number: 63, Leber congenital amaurosis, no patient Ids, consecutive numbers given F - Germany - - - - - 1 LOVD
+?/. 4 c.1625C>G r.(?) p.(Ser542*) Parent #1 - likely pathogenic (recessive) g.55538067C>G g.54625507C>G RP1; M1: c.1625C>G, p.Ser542* - RP1_000098 heterozygous PubMed: El Shamieh 2015 - - Germline yes - - - - DNA SEQ-NG, SEQ blood targeted next generation sequencing retinal disease FamF303patII.1 PubMed: El Shamieh 2015 no other affected family member, from France F - France French - - - - 1 LOVD
+?/. 4 c.1625C>G r.(?) p.(Ser542*) Parent #1 - likely pathogenic (recessive) g.55538067C>G g.54625507C>G RP1 c.1625C>G, p.S542* - RP1_000098 heterozygous PubMed: Chassine 2015 - - Unknown ? - - - - DNA ? - - retinal disease RP-0137/II:1 PubMed: Chassine 2015 - ? - Spain - - - - - 1 LOVD
+?/. 4 c.1625C>G r.(?) p.(Ser542*) Parent #1 - likely pathogenic (recessive) g.55538067C>G g.54625507C>G RP1 c.1625C>G, p.S542* - RP1_000098 heterozygous PubMed: Chassine 2015 - - Unknown ? - - - - DNA ? - - retinal disease RP-0137/II:2 PubMed: Chassine 2015 - ? - Spain - - - - - 1 LOVD
+?/. 4 c.1625C>G r.(?) p.(Ser542*) Both (homozygous) - likely pathogenic (recessive) g.55538067C>G g.54625507C>G RP1 c.1625C>G, p.S542* - RP1_000098 homozygous PubMed: Chassine 2015 - - Unknown ? - - - - DNA ? - - retinal disease RP-0056/II:2 PubMed: Chassine 2015 - ? - Spain - - - - - 1 LOVD
+?/. 4 c.1625C>G r.(?) p.(Ser542*) Both (homozygous) - likely pathogenic (recessive) g.55538067C>G g.54625507C>G RP1 c.1625C>G, p.S542* - RP1_000098 homozygous PubMed: Chassine 2015 - - Unknown ? - - - - DNA ? - - retinal disease RP-0435/II:2 PubMed: Chassine 2015 - ? - Spain - - - - - 1 LOVD
+?/. 4 c.1625C>G r.(?) p.(Ser542*) Both (homozygous) - likely pathogenic (recessive) g.55538067C>G g.54625507C>G RP1 c.1625C>G, p.S542* - RP1_000098 homozygous PubMed: Chassine 2015 - - Unknown ? - - - - DNA ? - - retinal disease RP-0551/II:1 PubMed: Chassine 2015 - ? - Spain - - - - - 1 LOVD
+?/. 4 c.1625C>G r.(?) p.(Ser542*) Both (homozygous) - likely pathogenic (recessive) g.55538067C>G g.54625507C>G RP1 c.1625C>G, p.S542* - RP1_000098 homozygous PubMed: Chassine 2015 - - Unknown ? - - - - DNA ? - - retinal disease RP-0880/II:1 PubMed: Chassine 2015 - ? - Spain - - - - - 1 LOVD
+?/. 4 c.1625C>G r.(?) p.(Ser542*) Both (homozygous) - likely pathogenic (recessive) g.55538067C>G g.54625507C>G RP1 c.1625C>G, p.S542* - RP1_000098 homozygous PubMed: Chassine 2015 - - Unknown ? - - - - DNA ? - - retinal disease RP-0880/II:2 PubMed: Chassine 2015 - ? - Spain - - - - - 1 LOVD
+?/. 4 c.1625C>G r.(?) p.(Ser542*) Both (homozygous) - likely pathogenic (recessive) g.55538067C>G g.54625507C>G RP1 c.1625C>G, p.S542* - RP1_000098 homozygous PubMed: Chassine 2015 - - Unknown ? - - - - DNA ? - - retinal disease RP-1061/II:1 PubMed: Chassine 2015 - ? - Spain - - - - - 1 LOVD
+?/. 4 c.1625C>G r.(?) p.(Ser542*) Parent #1 - likely pathogenic (recessive) g.55538067C>G g.54625507C>G RP1 c.1625C>G, p.S542* - RP1_000098 heterozygous PubMed: Chassine 2015 - - Unknown ? - - - - DNA ? - - retinal disease RP-1537/II:1 PubMed: Chassine 2015 - ? - Spain - - - - - 1 LOVD
+?/. 4 c.1625C>G r.(?) p.(Ser542*) Both (homozygous) - likely pathogenic (recessive) g.55538067C>G g.54625507C>G RP1 c.1625C>G, p.S542* - RP1_000098 homozygous PubMed: Chassine 2015 - - Unknown ? - - - - DNA ? - - retinal disease RP-1610/II:1 PubMed: Chassine 2015 - ? - Spain - - - - - 1 LOVD
+/. 4 c.1625C>G r.(?) p.(Ser542*) Both (homozygous) - pathogenic g.55538067C>G g.54625507C>G RP1 c.1625C >G , p.Ser542* - RP1_000098 homozygous PubMed: Silva 2020 - - Germline yes - - - - DNA SEQ blood whole exome sequencing retinal disease 7 PubMed: Silva 2020 - F - - - - - - - 1 LOVD
+/. 4 c.1625C>G r.(?) p.(Ser542*) Both (homozygous) - pathogenic g.55538067C>G g.54625507C>G RP1 c.1625C>G , p.Ser542* - RP1_000098 homozygous PubMed: Silva 2020 - - Germline yes - - - - DNA SEQ blood whole exome sequencing retinal disease 6 PubMed: Silva 2020 - M - - - - - - - 1 LOVD
+/. 4 c.1625C>G r.(?) p.(Ser542*) Parent #2 - pathogenic g.55538067C>G g.54625507C>G RP1 c.1625C>G , p.Ser542* - RP1_000098 heterozygous PubMed: Silva 2020 - - Germline yes - - - - DNA SEQ blood whole exome sequencing retinal disease 2 PubMed: Silva 2020 - M - - - - - - - 1 LOVD
+/. 4 c.1625C>G r.(?) p.(Ser542*) Both (homozygous) - pathogenic g.55538067C>G - c.1625C>G - RP1_000098 - PubMed: Panneman 2023 - - Unknown - - - - - DNA SEQ - RP-LCA smMIPs sequencing RP - PubMed: Panneman 2023 - F - - - - - - - 1 Daan Panneman
+/. - c.1625C>G r.(?) p.(Ser542Ter) Unknown ACMG pathogenic g.55538067C>G g.54625507C>G - - RP1_000098 no variant 2nd chromosome, case unsolved PubMed: Hitti-Malin 2024, Journal: Hitti-Malin 2024 - - Germline - - - - - DNA SEQ - smMIP-based 105 iMD/AMD genes macular dystrophy 071005 PubMed: Hitti-Malin 2024, Journal: Hitti-Malin 2024 - - - - - - - - - 1 Johan den Dunnen
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