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.

29 entries on 1 page. Showing entries 1 - 29.
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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     

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Age at death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
+/. - c.4196del r.(?) p.(Cys1399Leufs*5) Unknown ACMG pathogenic g.55540638del - c.4196delG - RP1_000256 - PubMed: Kim 2019 - - Germline - 1/86 cases - - - DNA SEQ, SEQ-NG - 204 gene panel retinal disease - PubMed: Kim 2019 - - - Korea - - - - - 1 Global Variome, with Curator vacancy
+/. - c.4196del r.(?) p.(Cys1399Leufs*5) Parent #2 - pathogenic (recessive) g.55540638del g.54628078del - - RP1_000256 - PubMed: Nikopoulos 2019 - - Germline yes - - - - DNA SEQ - - retinal disease 201 PubMed: Nikopoulos 2019 - F - Japan - - - - - 1 Global Variome, with Curator vacancy
+/. - c.4196del r.(?) p.(Cys1399Leufs*5) Parent #2 - pathogenic (recessive) g.55540638del g.54628078del - - RP1_000256 - PubMed: Nikopoulos 2019 - - Germline yes - - - - DNA SEQ - - retinal disease 209 PubMed: Nikopoulos 2019 - F - Japan - - - - - 1 Global Variome, with Curator vacancy
+?/. - c.4196del r.(?) p.(Cys1399Leufs*5) Unknown - likely pathogenic g.55540638del g.54628078del c.4196_4196delG - RP1_000256 - PubMed: Huang 2018 - - Germline - - - - - DNA SEQ-NG - 283-gene panel retinal disease RP020 PubMed: Huang 2018 - - - - - - - - - 1 LOVD
+?/. - c.4196del r.(?) p.(Cys1399LeufsTer5) Both (homozygous) - likely pathogenic g.55540638del g.54628078del c.4196delG - RP1_000256 - PubMed: Wang 2014 - - Germline - - - - - DNA SEQ-NG - 66-gene panel retinal disease 46 PubMed: Wang 2014 - M - United States - - - - - 1 LOVD
+?/. - c.4196del r.(?) p.(Cys1399Leufs*5) Unknown ACMG pathogenic g.55540638del g.54628078del 4196delG - RP1_000256 - - - - Germline/De novo (untested) - - - - - DNA SEQ-NG-I - - CORD IR_SH_0018 - - M - Korea, South (Republic) - - - - - 1 Jinu Han
+?/. - c.4196del r.(?) p.(Cys1399Leufs*5) Unknown ACMG pathogenic g.55540638del g.54628078del 4196delG - RP1_000256 - - - - Germline/De novo (untested) - - - - - DNA SEQ-NG-I - - macular dystrophy IR_SH_0041 - - F - Korea, South (Republic) - - - - - 1 Jinu Han
+?/. - c.4196del r.(?) p.(Cys1399Leufs*5) Unknown ACMG pathogenic g.55540638del g.54628078del - - RP1_000256 - - - - Germline/De novo (untested) - - - - - DNA SEQ-NG-I - - CORD IR_GH_0021 - - M - Korea, South (Republic) - - - - - 1 Jinu Han
+?/. - c.4196del r.(?) p.(Cys1399Leufs*5) Unknown ACMG pathogenic g.55540638del g.54628078del - - RP1_000256 - - - - Germline/De novo (untested) - - - - - DNA SEQ-NG-I - - CORD IR_GH_0081 - - F - Korea, South (Republic) - - - - - 1 Jinu Han
+?/. - c.4196del r.(?) p.(Cys1399Leufs*5) Unknown ACMG pathogenic g.55540638del g.54628078del 4196delG - RP1_000256 - - - - Germline/De novo (untested) - - - - - DNA SEQ-NG-I - - CORD IR_BDC_0002 - - M - Korea, South (Republic) - - - - - 1 Jinu Han
+?/. - c.4196del r.(?) p.(Cys1399Leufs*5) Unknown ACMG pathogenic g.55540638del g.54628078del 4196delG - RP1_000256 - - - - Germline/De novo (untested) - - - - - DNA SEQ-NG-I - - RP IR_BDC_0011 - - M - Korea, South (Republic) - - - - - 1 Jinu Han
+/. - c.4196del r.(?) p.(Cys1399LeufsTer5) Unknown ACMG pathogenic g.55540638del g.54628078del RP1 c.4196delG, p.C1399Lfs - RP1_000256 - PubMed: Kim 2019 - - Germline ? - - - - DNA SEQ-NG-I blood 204 genes associated with inherited retinal disorders, see paper retinal disease ? PubMed: Kim 2019 - ? - Korea, South (Republic) - - - - - 1 LOVD
+?/. - c.4196del r.(?) p.(Cys1399Leufs*5) Both (homozygous) - likely pathogenic g.55540638del g.54628078del RP1 p.(Cys1399Leufs*5) - RP1_000256 only protein changes written in the publication; mutation coding DNA extrapolated from other publications and databases; homozygous PubMed: Koyanagi 2020 - - Unknown ? - - - - DNA ? - retrospective study retinal disease OPH-182 PubMed: Koyanagi 2020 - F - Japan - - - - - 1 LOVD
+?/. - c.4196del r.(?) p.(Cys1399Leufs*5) Unknown - likely pathogenic g.55540638del g.54628078del RP1 p.(Cys1399Leufs*5) - RP1_000256 only protein changes written in the publication; mutation coding DNA extrapolated from other publications and databases; compound heterozygous PubMed: Koyanagi 2020 - - Unknown ? - - - - DNA ? - retrospective study retinal disease N-1201 PubMed: Koyanagi 2020 - F - Japan - - - - - 1 LOVD
+?/. - c.4196del r.(?) p.(Cys1399Leufs*5) Unknown - likely pathogenic g.55540638del g.54628078del RP1 p.(Cys1399Leufs*5) - RP1_000256 only protein changes written in the publication; mutation coding DNA extrapolated from other publications and databases; compound heterozygous PubMed: Koyanagi 2020 - - Unknown ? - - - - DNA ? - retrospective study retinal disease NA0209 PubMed: Koyanagi 2020 - M - Japan - - - - - 1 LOVD
+?/. - c.4196del r.(?) p.(Cys1399Leufs*5) Unknown - likely pathogenic g.55540638del g.54628078del RP1 p.(Cys1399Leufs*5) - RP1_000256 only protein changes written in the publication; mutation coding DNA extrapolated from other publications and databases; compound heterozygous PubMed: Koyanagi 2020 - - Unknown ? - - - - DNA ? - retrospective study retinal disease NAl209 PubMed: Koyanagi 2020 - F - Japan - - - - - 1 LOVD
?/. - c.4196del r.(?) p.(Cys1399LeufsTer5) Both (homozygous) ACMG VUS g.55540638del g.54628078del RP1 c.4196delG, p.C1399fs - RP1_000256 marked as causative, homozygous PubMed: Ma 2021 - - Unknown ? - - - - DNA SEQ-NG-I, SEQ - whole exome sequencing retinal disease 74 PubMed: Ma 2021 - ? - Korea - - - - - 1 LOVD
+?/. 4 c.4196del r.(?) p.(Cys1399Leufs*5) Unknown - likely pathogenic (recessive) g.55540638del - c.4196delG - RP1_000256 - PubMed: Liu-2020 - - Germline - - - - - DNA SEQ-NG - hereditary eye disease enrichment panel (HEDEP) retinal disease - PubMed: Liu-2020 - M - - - - - - - 1 LOVD
+/. 4 c.4196del r.(?) p.(Cys1399Leufs*5) Both (homozygous) - pathogenic (recessive) g.55540638del - c.4196delG:p.C1399fs - RP1_000256 - PubMed: Numa-2020 - - Germline - - - - - DNA SEQ, SEQ-NG - - retinal disease - PubMed: Numa 2020 - M - Japan Japanese - - - - 1 LOVD
+/. 4 c.4196del r.(?) p.(Cys1399Leufs*5) Unknown - pathogenic (recessive) g.55540638del - c.4196delG:p.C1399fs - RP1_000256 - PubMed: Numa-2020 - - Unknown - - - - - DNA SEQ, SEQ-NG - - retinal disease - PubMed: Numa 2020 - F - Japan Japanese - - - - 1 LOVD
+/. - c.4196del r.(?) p.(Cys1399Leufs*5) Paternal (confirmed) ACMG pathogenic (recessive) g.55540638del g.54628078del RP1 c.4196del, p.(Cys1399Leufs*5) - RP1_000256 heterozygous PubMed: Won 2021 - - Germline yes - - - - DNA SEQ-NG, SEQ blood whole genome sequencing retinal disease D.II-2 PubMed: Won 2021 family D, individual II:2 M - Korea, South (Republic) Korean - - - - 1 LOVD
+/. - c.4196del r.(?) p.(Cys1399LeufsTer5) Unknown - pathogenic g.55540638del g.54628078del 4196delG - RP1_000256 - PubMed: Moon 2021 - - Germline - - - - - DNA SEQ, SEQ-NG - gene panel retinal disease Pat76 PubMed: Moon 2021 - - - Korea - - - - - 1 Johan den Dunnen
+/. - c.4196delG r.(?) p.(Cys1399Leufs*5) Paternal (inferred) - pathogenic (recessive) g.55540638del g.54628078del RP1 c.4196delG/p.Cys1399Leufs*5 - RP1_000256 heterozygous PubMed: Ueno 2020 - - Germline yes - - - - DNA SEQ-NG, SEQ blood whole genome sequencing and direct sequencing retinal disease 4_NA0201 PubMed: Ueno 2020 family 4, individual NA0201, proband (II:2) M - Japan Japanese - - - - 1 LOVD
+/. - c.4196delG r.(?) p.(Cys1399Leufs*5) Paternal (inferred) - pathogenic (recessive) g.55540638del g.54628078del RP1 c.4196delG/p.Cys1399Leufs*6 - RP1_000256 heterozygous PubMed: Ueno 2020 - - Germline yes - - - - DNA SEQ-NG, SEQ blood whole genome sequencing and direct sequencing retinal disease 4_NA1201 PubMed: Ueno 2020 family 4, individual NA1201, proband's sister (II:1) F - Japan Japanese - - - - 1 LOVD
+/. - c.4196delG r.(?) p.(Cys1399Leufs*5) Maternal (confirmed) - pathogenic (recessive) g.55540638del g.54628078del RP1 c.4196delG/p.Cys1399Leufs*7 - RP1_000256 heterozygous PubMed: Ueno 2020 - - Germline yes - - - - DNA SEQ-NG, SEQ blood whole genome sequencing and direct sequencing retinal disease 5_NA0209 PubMed: Ueno 2020 family 5, individual NA0209, proband (II:2) M - Japan Japanese - - - - 1 LOVD
+/. - c.4196delG r.(?) p.(Cys1399Leufs*5) Maternal (confirmed) - pathogenic (recessive) g.55540638del g.54628078del RP1 c.4196delG/p.Cys1399Leufs*8 - RP1_000256 heterozygous PubMed: Ueno 2020 - - Germline yes - - - - DNA SEQ-NG, SEQ blood whole genome sequencing and direct sequencing retinal disease 5_NA1209 PubMed: Ueno 2020 family 5, individual NA1209, proband's sister (II:1) F - Japan Japanese - - - - 1 LOVD
+/. - c.4196delG r.(?) p.(Cys1399LeufsTer5) Both (homozygous) ACMG pathogenic g.55540638del g.54628078del RP1 c.4196delG, (p.Cys1399LeufsTer5) - RP1_000256 homozygous PubMed: Mizobuchi 2021 - rs762951570 Germline yes - - - - DNA SEQ-NG, SEQ blood whole-exome/whole-genome sequencing retinal disease 12_JU1763/1 PubMed: Mizobuchi 2021 family 12, individual JU1763/1 F - Japan Japanese - - - - 1 LOVD
+/. - c.4196delG r.(?) p.(Cys1399LeufsTer5) Paternal (confirmed) ACMG pathogenic g.55540638del g.54628078del RP1 c.4196delG, (p.Cys1399LeufsTer5) - RP1_000256 compound heterozygous PubMed: Mizobuchi 2021 - rs762951570 Germline yes - - - - DNA SEQ-NG, SEQ blood whole-exome/whole-genome sequencing retinal disease 13_JU1497/1 PubMed: Mizobuchi 2021 family 13, individual JU1497/1 M - Japan Japanese - - - - 1 LOVD
+/. - c.4196delG r.(?) p.(Cys1399LeufsTer5) Paternal (confirmed) ACMG pathogenic g.55540638del g.54628078del RP1 c.4196delG, (p.Cys1399LeufsTer5) - RP1_000256 compound heterozygous PubMed: Mizobuchi 2021 - rs762951570 Germline yes - - - - DNA SEQ-NG, SEQ blood whole-exome/whole-genome sequencing retinal disease 11_JUI662/ PubMed: Mizobuchi 2021 family 11, individual JUI662/ M - Japan Japanese - - - - 1 LOVD
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