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.

81 entries on 1 page. Showing entries 1 - 81.
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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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Population     

Age at death     

VIP     

Data_av     

Treatment     

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Owner     
-?/. 4 c.5797C>T r.(?) p.(Arg1933*) Unknown - likely benign g.55542239C>T g.54629679C>T - - RP1_000018 - PubMed: Baum 2001 - - Germline - - - - - DNA SEQ - - Healthy/Control - - - - - - - - - - - 1 Christina Zeitz
-?/. 4 c.5797C>T r.(?) p.(Arg1933*) Unknown - likely benign g.55542239C>T g.54629679C>T - - RP1_000018 - Chiang 2006 - - Germline - - - - - DNA SEQ - - Healthy/Control - - - - - - - - - - - 1 Christina Zeitz
-?/. 4 c.5797C>T r.(?) p.(Arg1933*) Unknown - likely benign g.55542239C>T g.54629679C>T - - RP1_000018 - PubMed: Yeung 2001 - - Germline - - - - - DNA SEQ - - ? - - - - - - - - - - - 1 Johan den Dunnen
?/. - c.5797C>T r.(?) p.(Arg1933*) Unknown - VUS g.55542239C>T g.54629679C>T - - RP1_000018 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 - rs118031911 Germline - 28/1202 cases with retinitis pigmentosa - - - DNA SEQ-NG - - retinal disease - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 analysis 1202 retinitis pigmentosa cases - - Japan - - - - - 28 Yoshito Koyanagi
?/. - c.5797C>T r.(?) p.(Arg1933*) Both (homozygous) - VUS g.55542239C>T g.54629679C>T - - RP1_000018 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 - rs118031911 Germline - 4/1202 cases with retinitis pigmentosa - - - DNA SEQ-NG - - retinal disease - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 analysis 1202 retinitis pigmentosa cases - - Japan - - - - - 4 Yoshito Koyanagi
+?/. - c.5797C>T r.(?) p.(Arg1933Ter) Unknown - likely pathogenic g.55542239C>T g.54629679C>T RP1(NM_006269.2):c.5797C>T (p.R1933*) - RP1_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.5797C>T r.(?) p.(Arg1933*) Both (homozygous) - pathogenic (!) g.55542239C>T g.54629679C>T - - RP1_000018 not pathogenic in homozygous state PubMed: Nikopoulos 2019 - - Germline - 3/12,379 homozygous controls - - - DNA SEQ - - Healthy/Control controls PubMed: Nikopoulos 2019 analysis 12,379 control individuals - - Japan - - - - - 3 Johan den Dunnen
+/. - c.5797C>T r.(?) p.(Arg1933*) Parent #1 - pathogenic (!) g.55542239C>T g.54629679C>T - - RP1_000018 - PubMed: Nikopoulos 2019 - - Germline - 142/12,379 heterozygous controls - - - DNA SEQ - - Healthy/Control controls PubMed: Nikopoulos 2019 analysis 12,379 control individuals - - Japan - - - - - 142 Johan den Dunnen
+/. - c.5797C>T r.(?) p.(Arg1933*) Parent #1 - pathogenic (recessive) g.55542239C>T g.54629679C>T - - RP1_000018 suggested association with variants in other RP genes (incl. EYS) PubMed: Nikopoulos 2019 - - Germline - - - - - DNA SEQ - - retinal disease M15 PubMed: Nikopoulos 2019 - M - Japan - - - - - 1 Global Variome, with Curator vacancy
+/. - c.5797C>T r.(?) p.(Arg1933*) Parent #1 - pathogenic (recessive) g.55542239C>T g.54629679C>T - - RP1_000018 suggested association with variants in other RP genes (incl. EYS) PubMed: Nikopoulos 2019 - - Germline - - - - - DNA SEQ - - retinal disease M9 PubMed: Nikopoulos 2019 - F - Japan - - - - - 1 Global Variome, with Curator vacancy
+/. - c.5797C>T r.(?) p.(Arg1933*) Parent #1 - pathogenic (recessive) g.55542239C>T g.54629679C>T - - RP1_000018 suggested association with variants in other RP genes (incl. EYS) PubMed: Nikopoulos 2019 - - Germline - - - - - DNA SEQ - - retinal disease R(O)40 PubMed: Nikopoulos 2019 - F - Japan - - - - - 1 Global Variome, with Curator vacancy
+/. - c.5797C>T r.(?) p.(Arg1933*) Parent #1 - pathogenic (recessive) g.55542239C>T g.54629679C>T - - RP1_000018 suggested association with variants in other RP genes (incl. EYS) PubMed: Nikopoulos 2019 - - Germline - - - - - DNA SEQ - - retinal disease R21 PubMed: Nikopoulos 2019 - M - Japan - - - - - 1 Global Variome, with Curator vacancy
+/. - c.5797C>T r.(?) p.(Arg1933*) Parent #1 - pathogenic (recessive) g.55542239C>T g.54629679C>T - - RP1_000018 suggested association with variants in other RP genes (incl. EYS) PubMed: Nikopoulos 2019 - - Germline - - - - - DNA SEQ - - retinal disease 221 PubMed: Nikopoulos 2019 - M - Japan - - - - - 1 Global Variome, with Curator vacancy
+/. - c.5797C>T r.(?) p.(Arg1933*) Parent #1 - pathogenic (recessive) g.55542239C>T g.54629679C>T - - RP1_000018 suggested association with variants in other RP genes (incl. EYS) PubMed: Nikopoulos 2019 - - Germline - - - - - DNA SEQ - - retinal disease R(O)44 PubMed: Nikopoulos 2019 - F - Japan - - - - - 1 Global Variome, with Curator vacancy
+/. - c.5797C>T r.(?) p.(Arg1933*) Parent #1 - pathogenic (recessive) g.55542239C>T g.54629679C>T - - RP1_000018 suggested association with variants in other RP genes (incl. EYS) PubMed: Nikopoulos 2019 - - Germline - - - - - DNA SEQ - - retinal disease OPH‐610 PubMed: Nikopoulos 2019 - F - Japan - - - - - 1 Global Variome, with Curator vacancy
+/. - c.5797C>T r.(?) p.(Arg1933*) Parent #1 - pathogenic (recessive) g.55542239C>T g.54629679C>T - - RP1_000018 suggested association with variants in other RP genes (incl. EYS) PubMed: Nikopoulos 2019 - - Germline - - - - - DNA SEQ - - retinal disease OPH‐302 PubMed: Nikopoulos 2019 - F - Japan - - - - - 1 Global Variome, with Curator vacancy
+/. - c.5797C>T r.(?) p.(Arg1933*) Parent #1 - pathogenic (recessive) g.55542239C>T g.54629679C>T - - RP1_000018 suggested association with variants in other RP genes (incl. EYS) PubMed: Nikopoulos 2019 - - Germline - - - - - DNA SEQ - - retinal disease Q‐116 PubMed: Nikopoulos 2019 - F - Japan - - - - - 1 Global Variome, with Curator vacancy
+/. - c.5797C>T r.(?) p.(Arg1933*) Parent #1 - pathogenic (recessive) g.55542239C>T g.54629679C>T - - RP1_000018 suggested association with variants in other RP genes (incl. EYS) PubMed: Nikopoulos 2019 - - Germline - - - - - DNA SEQ - - retinal disease OPH‐179 PubMed: Nikopoulos 2019 - M - Japan - - - - - 1 Global Variome, with Curator vacancy
+/. - c.5797C>T r.(?) p.(Arg1933*) Parent #1 - pathogenic (recessive) g.55542239C>T g.54629679C>T - - RP1_000018 suggested association with variants in other RP genes (incl. EYS) PubMed: Nikopoulos 2019 - - Germline - - - - - DNA SEQ - - retinal disease OPH‐285 PubMed: Nikopoulos 2019 - F - Japan - - - - - 1 Global Variome, with Curator vacancy
+/. - c.5797C>T r.(?) p.(Arg1933*) Parent #1 - pathogenic (recessive) g.55542239C>T g.54629679C>T - - RP1_000018 suggested association with variants in other RP genes (incl. EYS) PubMed: Nikopoulos 2019 - - Germline - - - - - DNA SEQ - - retinal disease OPH‐419 PubMed: Nikopoulos 2019 - F - Japan - - - - - 1 Global Variome, with Curator vacancy
+/. - c.5797C>T r.(?) p.(Arg1933*) Parent #1 - pathogenic (recessive) g.55542239C>T g.54629679C>T - - RP1_000018 suggested association with variants in other RP genes (incl. EYS) PubMed: Nikopoulos 2019 - - Germline - - - - - DNA SEQ - - retinal disease OPH‐424 PubMed: Nikopoulos 2019 - M - Japan - - - - - 1 Global Variome, with Curator vacancy
+/. - c.5797C>T r.(?) p.(Arg1933*) Parent #1 - pathogenic (recessive) g.55542239C>T g.54629679C>T - - RP1_000018 suggested association with variants in other RP genes (incl. EYS) PubMed: Nikopoulos 2019 - - Germline - - - - - DNA SEQ - - retinal disease OPH‐733 PubMed: Nikopoulos 2019 - M - Japan - - - - - 1 Global Variome, with Curator vacancy
+/. - c.5797C>T r.(?) p.(Arg1933*) Parent #1 - pathogenic (recessive) g.55542239C>T g.54629679C>T - - RP1_000018 suggested association with variants in other RP genes (incl. EYS) PubMed: Nikopoulos 2019 - - Germline - - - - - DNA SEQ - - retinal disease OPH‐794 PubMed: Nikopoulos 2019 - M - Japan - - - - - 1 Global Variome, with Curator vacancy
+/. - c.5797C>T r.(?) p.(Arg1933*) Parent #1 - pathogenic (recessive) g.55542239C>T g.54629679C>T - - RP1_000018 suggested association with variants in other RP genes (incl. EYS) PubMed: Nikopoulos 2019 - - Germline - - - - - DNA SEQ - - retinal disease OPH‐812 PubMed: Nikopoulos 2019 - M - Japan - - - - - 1 Global Variome, with Curator vacancy
+/. - c.5797C>T r.(?) p.(Arg1933*) Parent #1 - pathogenic (recessive) g.55542239C>T g.54629679C>T - - RP1_000018 suggested association with variants in other RP genes (incl. EYS) PubMed: Nikopoulos 2019 - - Germline - - - - - DNA SEQ - - retinal disease OPH‐814 PubMed: Nikopoulos 2019 - F - Japan - - - - - 1 Global Variome, with Curator vacancy
+/. - c.5797C>T r.(?) p.(Arg1933*) Parent #1 - pathogenic (recessive) g.55542239C>T g.54629679C>T - - RP1_000018 suggested association with variants in other RP genes (incl. EYS) PubMed: Nikopoulos 2019 - - Germline - - - - - DNA SEQ - - retinal disease OPH‐884 PubMed: Nikopoulos 2019 - F - Japan - - - - - 1 Global Variome, with Curator vacancy
+/. - c.5797C>T r.(?) p.(Arg1933*) Parent #1 - pathogenic (recessive) g.55542239C>T g.54629679C>T - - RP1_000018 suggested association with variants in other RP genes (incl. EYS) PubMed: Nikopoulos 2019 - - Germline - - - - - DNA SEQ - - retinal disease OPH‐967 PubMed: Nikopoulos 2019 - M - Japan - - - - - 1 Global Variome, with Curator vacancy
+/. - c.5797C>T r.(?) p.(Arg1933*) Parent #1 - pathogenic (recessive) g.55542239C>T g.54629679C>T - - RP1_000018 suggested association with variants in other RP genes (incl. EYS) PubMed: Nikopoulos 2019 - - Germline - - - - - DNA SEQ - - retinal disease R170 PubMed: Nikopoulos 2019 - M - Japan - - - - - 1 Global Variome, with Curator vacancy
+/. - c.5797C>T r.(?) p.(Arg1933*) Parent #1 - pathogenic (recessive) g.55542239C>T g.54629679C>T - - RP1_000018 suggested association with variants in other RP genes (incl. EYS) PubMed: Nikopoulos 2019 - - Germline - - - - - DNA SEQ - - retinal disease R204 PubMed: Nikopoulos 2019 - F - Japan - - - - - 1 Global Variome, with Curator vacancy
+/. - c.5797C>T r.(?) p.(Arg1933*) Parent #1 - pathogenic (recessive) g.55542239C>T g.54629679C>T - - RP1_000018 suggested association with variants in other RP genes (incl. EYS) PubMed: Nikopoulos 2019 - - Germline - - - - - DNA SEQ - - retinal disease YWC101 PubMed: Nikopoulos 2019 - M - Japan - - - - - 1 Global Variome, with Curator vacancy
+/. - c.5797C>T r.(?) p.(Arg1933*) Parent #1 - pathogenic (recessive) g.55542239C>T g.54629679C>T - - RP1_000018 suggested association with variants in other RP genes (incl. EYS) PubMed: Nikopoulos 2019 - - Germline - - - - - DNA SEQ - - retinal disease YWC102 PubMed: Nikopoulos 2019 - M - Japan - - - - - 1 Global Variome, with Curator vacancy
+/. - c.5797C>T r.(?) p.(Arg1933*) Parent #1 - pathogenic (recessive) g.55542239C>T g.54629679C>T - - RP1_000018 suggested association with variants in other RP genes (incl. EYS) PubMed: Nikopoulos 2019 - - Germline - - - - - DNA SEQ - - retinal disease YWC107 PubMed: Nikopoulos 2019 - F - Japan - - - - - 1 Global Variome, with Curator vacancy
+/. - c.5797C>T r.(?) p.(Arg1933*) Parent #1 - pathogenic (recessive) g.55542239C>T g.54629679C>T - - RP1_000018 suggested association with variants in other RP genes (incl. EYS) PubMed: Nikopoulos 2019 - - Germline - - - - - DNA SEQ - - retinal disease OPH‐553 PubMed: Nikopoulos 2019 - M - Japan - - - - - 1 Global Variome, with Curator vacancy
+/. - c.5797C>T r.(?) p.(Arg1933*) Parent #1 - pathogenic (recessive) g.55542239C>T g.54629679C>T - - RP1_000018 suggested association with variants in other RP genes (incl. EYS) PubMed: Nikopoulos 2019 - - Germline - - - - - DNA SEQ - - retinal disease YWC100 PubMed: Nikopoulos 2019 - F - Japan - - - - - 1 Global Variome, with Curator vacancy
+/. - c.5797C>T r.(?) p.(Arg1933*) Parent #1 - pathogenic (recessive) g.55542239C>T g.54629679C>T - - RP1_000018 suggested association with variants in other RP genes (incl. EYS) PubMed: Nikopoulos 2019 - - Germline - - - - - DNA SEQ - - retinal disease YWC193 PubMed: Nikopoulos 2019 - F - Japan - - - - - 1 Global Variome, with Curator vacancy
+/. - c.5797C>T r.(?) p.(Arg1933*) Parent #1 - pathogenic (recessive) g.55542239C>T g.54629679C>T - - RP1_000018 suggested association with variants in other RP genes (incl. EYS) PubMed: Nikopoulos 2019 - - Germline - - - - - DNA SEQ - - retinal disease YWC6 PubMed: Nikopoulos 2019 - F - Japan - - - - - 1 Global Variome, with Curator vacancy
+/. - c.5797C>T r.(?) p.(Arg1933*) Parent #2 - pathogenic (!) g.55542239C>T g.54629679C>T - - RP1_000018 - PubMed: Nikopoulos 2019 - rs118031911 Germline yes - - - - DNA SEQ - - retinal disease C1 PubMed: Nikopoulos 2019 - F - Japan - - - - - 1 Global Variome, with Curator vacancy
+/. - c.5797C>T r.(?) p.(Arg1933*) Parent #2 - pathogenic (!) g.55542239C>T g.54629679C>T - - RP1_000018 - PubMed: Nikopoulos 2019 - rs118031911 Germline yes - - - - DNA SEQ - - retinal disease M5 PubMed: Nikopoulos 2019 - M - Japan - - - - - 1 Global Variome, with Curator vacancy
+/. - c.5797C>T r.(?) p.(Arg1933*) Parent #2 - pathogenic (!) g.55542239C>T g.54629679C>T - - RP1_000018 - PubMed: Nikopoulos 2019 - rs118031911 Germline yes - - - - DNA SEQ - - retinal disease M7 PubMed: Nikopoulos 2019 - F - Japan - - - - - 1 Global Variome, with Curator vacancy
+/. - c.5797C>T r.(?) p.(Arg1933*) Parent #2 - pathogenic (!) g.55542239C>T g.54629679C>T - - RP1_000018 - PubMed: Nikopoulos 2019 - rs118031911 Germline yes - - - - DNA SEQ - - retinal disease OPH‐280 PubMed: Nikopoulos 2019 - F - Japan - - - - - 1 Global Variome, with Curator vacancy
+?/. - c.5797C>T r.(?) p.(Arg1933*) Both (homozygous) - likely pathogenic g.55542239C>T g.54629679C>T - - RP1_000018 - PubMed: Maeda 2018 - rs118031911 Germline - - - - - DNA SEQ, SEQ-NG - 39-gene panel retinal disease Pat38 PubMed: Maeda 2018 family F - Japan - - - - - 1 LOVD
+/. - c.5797C>T r.(?) p.(Arg1933*) Unknown - pathogenic g.55542239C>T - - - RP1_000018 - PubMed: Fujinami 2016 - rs118031911 Germline - - - - - DNA SEQ-NG - WES OCMD Fam6PatII2 PubMed: Fujinami 2016 - M - Japan - - - - - 1 LOVD
+/. - c.5797C>T r.(?) p.(Arg1933*) Unknown - pathogenic g.55542239C>T - - - RP1_000018 - PubMed: Fujinami 2016 - - Germline - - - - - DNA SEQ-NG - WES OCMD Fam15PatII2 PubMed: Fujinami 2016 - M - Japan - - - - - 1 LOVD
?/. - c.5797C>T r.(?) p.(Arg1933Ter) Unknown - VUS g.55542239C>T g.54629679C>T - - RP1_000018 - PubMed: Xu 2014 - rs118031911 Germline - 1/314 case chromosomes - - - DNA SEQ-NG - gene panel retinal disease RP323 PubMed: Xu 2014 - - - China - - - - - 1 LOVD
?/. 4 c.5797C>T r.(?) p.(Arg1933Ter) Unknown - VUS g.55542239C>T g.54629679C>T C5797T - RP1_000018 - PubMed: Katagiri 2014 - rs118031911 Germline - - - - - DNA SEQ-NG - WES retinal disease RP#030 PubMed: Katagiri 2014 family - - Japan - - - - - 1 LOVD
+?/. - c.5797C>T r.(?) p.(Arg1933*) Unknown ACMG pathogenic g.55542239C>T - - - RP1_000018 - - - - Germline/De novo (untested) - - - - - DNA SEQ-NG-I - - macular dystrophy IR_SH_0041 - - F - Korea, South (Republic) - - - - - 1 Jinu Han
+?/. - c.5797C>T r.(?) p.(Arg1933*) Unknown ACMG pathogenic g.55542239C>T - - - RP1_000018 - - - - Germline/De novo (untested) - - - - - DNA SEQ-NG-IT - - macular dystrophy IR_SH_0066 - - M - Korea, South (Republic) - - - - - 1 Jinu Han
+?/. - c.5797C>T r.(?) p.(Arg1933*) Unknown ACMG pathogenic g.55542239C>T - - - RP1_000018 - - - - Germline/De novo (untested) - - - - - DNA SEQ-NG-I - - macular dystrophy IR_GS_0037 - - F - Korea, South (Republic) - - - - - 1 Jinu Han
+?/. - c.5797C>T r.(?) p.(Arg1933*) Unknown ACMG pathogenic g.55542239C>T - - - RP1_000018 - - - - Germline/De novo (untested) - - - - - DNA SEQ-NG-I - - CORD IR_GH_0081 - - F - Korea, South (Republic) - - - - - 1 Jinu Han
+?/. - c.5797C>T r.(?) p.(Arg1933*) Unknown ACMG pathogenic g.55542239C>T - - - RP1_000018 - - - - Germline/De novo (untested) - - - - - DNA SEQ-NG-I - - macular dystrophy IR_GS_0191 - - F - Korea, South (Republic) - - - - - 1 Jinu Han
+?/. - c.5797C>T r.(?) p.(Arg1933*) Unknown ACMG pathogenic g.55542239C>T - - - RP1_000018 - - - - Germline/De novo (untested) - - - - - DNA SEQ-NG-I - - CORD IR_BDC_0002 - - M - Korea, South (Republic) - - - - - 1 Jinu Han
+?/. - c.5797C>T r.(?) p.(Arg1933*) Both (homozygous) - likely pathogenic g.55542239C>T g.54629679C>T c.5797C>T, p.(Arg1933*) - RP1_000018 Homozygous PubMed: Wang 2019 - - Germline ? - - - - DNA SEQ-NG blood panel of 126 genes retinal disease 13685 PubMed: Wang 2019 - F - China - - - - - 1 LOVD
?/. - c.5797C>T r.(?) p.(Arg1933Ter) Unknown ACMG VUS g.55542239C>T g.54629679C>T RP1 c.C5797T, p.R1933X - RP1_000018 marked as possibly causative, single heterozygous change in a recessive gene, heterozygous PubMed: Ma 2021 - - Unknown ? - - - - DNA SEQ-NG-I, SEQ - whole exome sequencing retinal disease 20 PubMed: Ma 2021 - ? - Korea - - - - - 1 LOVD
?/. - c.5797C>T r.(?) p.(Arg1933Ter) Unknown ACMG VUS g.55542239C>T g.54629679C>T RP1 c.C5797T, p.R1933X - RP1_000018 marked as possibly causative, single heterozygous change in a recessive gene, heterozygous PubMed: Ma 2021 - - Unknown ? - - - - DNA SEQ-NG-I, SEQ - whole exome sequencing retinal disease 46 PubMed: Ma 2021 - ? - Korea - - - - - 1 LOVD
+/. - c.5797C>T r.(?) p.(Arg1933Ter) Unknown ACMG pathogenic g.55542239C>T g.54629679C>T RP1 c.C5797T, p.R1933X - RP1_000018 marked as causative, heterozygous PubMed: Ma 2021 - - Unknown ? - - - - DNA SEQ-NG-I, SEQ - whole exome sequencing retinal disease 98 PubMed: Ma 2021 - ? - Korea - - - - - 1 LOVD
?/. - c.5797C>T r.(?) p.(Arg1933Ter) Unknown ACMG VUS g.55542239C>T g.54629679C>T RP1 c.C5797T, p.R1933X - RP1_000018 marked as causative, heterozygous PubMed: Ma 2021 - - Unknown ? - - - - DNA SEQ-NG-I, SEQ - whole exome sequencing retinal disease 168 PubMed: Ma 2021 - ? - Korea - - - - - 1 LOVD
?/. - c.5797C>T r.(?) p.(Arg1933Ter) Unknown ACMG VUS g.55542239C>T g.54629679C>T RP1 c.C5797T, p.R1933X - RP1_000018 marked as causative, heterozygous PubMed: Ma 2021 - - Unknown ? - - - - DNA SEQ-NG-I, SEQ - whole exome sequencing retinal disease 171 PubMed: Ma 2021 - ? - Korea - - - - - 1 LOVD
+?/. 4 c.5797C>T r.(?) p.(Arg1933*) Unknown - likely pathogenic (dominant) g.55542239C>T - c.5797C>T - RP1_000018 - PubMed: Liu-2020 - - Germline - - - - - DNA SEQ-NG - hereditary eye disease enrichment panel (HEDEP) retinal disease - PubMed: Liu-2020 - M - - - - - - - 1 LOVD
+/. - c.5797C>T r.(?) p.(Arg1933*) Unknown ACMG pathogenic g.55542239C>T g.54629679C>T RP1 c.[5797C>T];[5797=], V1: c.5797C>T, (p.Arg1933Ter) - RP1_000018 heterozygous PubMed: Chen 2021 - - Unknown ? - - - - DNA SEQ-NG blood 212 inherited retinal disease-related genes retinal disease F175 PubMed: Chen 2021 - ? - Taiwan - - - - - 1 LOVD
+/. 4 c.5797C>T r.(?) p.(Arg1933*) Unknown - pathogenic (recessive) g.55542239C>T - c.5797C>T:p.R1933X - RP1_000018 - PubMed: Numa-2020 - - Unknown - - - - - DNA SEQ, SEQ-NG - - retinal disease - PubMed: Numa 2020 - F - Japan Japanese - - - - 1 LOVD
?/. 4 c.5797C>T r.(?) p.(Arg1933*) Maternal (inferred) - VUS g.55542239C>T g.54629679C>T RP1 R1933X - RP1_000018 heterozygous; does not cause dominant disease - authors proposed that RP can be caused by lack of the region of RP1 protein after codon 1052 but before 1933; abstract only PubMed: Zhang 2002 - - Germline yes heterozygous also in three control individuals - - - DNA CSGE, SEQ blood - retinal disease ? PubMed: Zhang 2002 abstract only ? - China - - - - - 1 LOVD
+?/. 4 c.5797C>T r.(?) p.(Arg1933*) Maternal (confirmed) - likely pathogenic (recessive) g.55542239C>T g.54629679C>T RP1 c.5797C>T; p.R1933* - RP1_000018 heterozygous PubMed: Li 2018 - - Germline yes - - - - DNA SEQ-NG, SEQ blood targeted next-generation sequencing retinal disease 93 PubMed: Li 2018 family ARRP-93 M - China Chinese - - - - 1 LOVD
+?/. - c.5797C>T r.(?) p.(Arg1933*) Unknown - likely pathogenic (recessive) g.55542239C>T g.54629679C>T RP1 c.5797C>T, p.Arg1933* - RP1_000018 heterozygous PubMed: Verbakel 2019 - - Unknown ? - - - - DNA SEQ-NG, SEQ blood whole exome sequencing: vision gene panel analysis retinal disease G-II:2 PubMed: Verbakel 2019 family G, proband F - - East Asian - - - - 1 LOVD
+?/. - c.5797C>T r.(?) p.(Arg1933*) Unknown - likely pathogenic (recessive) g.55542239C>T g.54629679C>T RP1 c.5797C>T, p.Arg1933* - RP1_000018 heterozygous PubMed: Verbakel 2019 - - Germline yes - - - - DNA SEQ-NG, SEQ blood whole exome sequencing: vision gene panel analysis retinal disease A-II:2 PubMed: Verbakel 2019 family A, proband F - - white - - - - 1 LOVD
+?/. - c.5797C>T r.(?) p.(Arg1933*) Unknown - likely pathogenic (recessive) g.55542239C>T g.54629679C>T RP1 c.5797C>T, p.Arg1933* - RP1_000018 heterozygous PubMed: Verbakel 2019 - - Germline yes - - - - DNA SEQ-NG, SEQ blood whole exome sequencing: vision gene panel analysis retinal disease A-II:4 PubMed: Verbakel 2019 family A, proband's brother M - - white - - - - 1 LOVD
+?/. - c.5797C>T r.(?) p.(Arg1933*) Unknown - likely pathogenic (recessive) g.55542239C>T g.54629679C>T RP1 c.5797C>T, p.Arg1933* - RP1_000018 heterozygous PubMed: Verbakel 2019 - - Germline yes - - - - DNA SEQ-NG, SEQ blood whole exome sequencing: vision gene panel analysis retinal disease A-II:5 PubMed: Verbakel 2019 family A, proband's sister 2 F - - white - - - - 1 LOVD
+/. - c.5797C>T r.(?) p.(Arg1933Ter) Parent #1 - pathogenic g.55542239C>T g.54629679C>T RP1 c.[5797C>T];[5797=]; p.(Arg1933Ter) - RP1_000018 heterozygous PubMed: Chen 2021 - - Germline yes Taiwan Biobank: 0.001318; GnomAD_exome_East: 0.00201; GnomAD_All: 0.000179 - - - DNA SEQ-NG - targeted 212 IRD-related genes retinal disease F175 PubMed: Chen 2021 - - - Taiwan - - - - - 1 LOVD
?/. - c.5797C>T r.(?) p.(Arg1933*) Paternal (confirmed) - VUS g.55542239C>T g.54629679C>T RP1 c.5797C > T, p.(Arg1933*) - RP1_000018 heterozygous PubMed: Won 2021 - - Germline yes - - - - DNA SEQ-NG, SEQ blood panel sequencing, whole exome and genome sequencing retinal disease B.II-1 PubMed: Won 2021 family B, individual II:1 F - Korea, South (Republic) Korean - - - - 1 LOVD
?/. - c.5797C>T r.(?) p.(Arg1933*) Unknown - VUS g.55542239C>T g.54629679C>T RP1 c.5797C > T, p.(Arg1933*) - RP1_000018 heterozygous PubMed: Won 2021 - - Germline/De novo (untested) ? - - - - DNA SEQ-NG, SEQ blood whole exome sequencing retinal disease C.II-2 PubMed: Won 2021 family C, individual II:2 M - Korea, South (Republic) Korean - - - - 1 LOVD
?/. - c.5797C>T r.(?) p.(Arg1933*) Maternal (confirmed) - VUS g.55542239C>T g.54629679C>T RP1 c.5797C > T, p.(Arg1933*) - RP1_000018 heterozygous PubMed: Won 2021 - - Germline yes - - - - DNA SEQ-NG, SEQ blood panel sequencing retinal disease E.II-1 PubMed: Won 2021 family E, individual II:1 M - Korea, South (Republic) Korean - - - - 1 LOVD
+/. - c.5797C>T r.(?) p.(Arg1933Ter) Paternal (confirmed) ACMG pathogenic g.55542239C>T g.54629679C>T RP1 c.5797C>T, (p.Arg1933Ter) - RP1_000018 compound heterozygous PubMed: Mizobuchi 2021 - rs199879316 Germline yes - - - - DNA SEQ-NG, SEQ blood whole-exome/whole-genome sequencing retinal disease 18_JU1701/1 PubMed: Mizobuchi 2021 family 18, individual JU1701/1 M - Japan Japanese - - - - 1 LOVD
+/. - c.5797C>T r.(?) p.(Arg1933Ter) Parent #2 ACMG pathogenic g.55542239C>T g.54629679C>T RP1 c.5797C>T, (p.Arg1933Ter) - RP1_000018 compound heterozygous PubMed: Mizobuchi 2021 - - Germline yes - - - - DNA SEQ-NG, SEQ blood whole-exome/whole-genome sequencing retinal disease 19_5275/1 PubMed: Mizobuchi 2021 family 19, individual 5275/1 M - Japan Japanese - - - - 1 LOVD
+/. - c.5797C>T r.(?) p.(Arg1933Ter) Maternal (confirmed) ACMG pathogenic g.55542239C>T g.54629679C>T RP1 c.5797C>T, (p.Arg1933Ter) - RP1_000018 compound heterozygous PubMed: Mizobuchi 2021 - - Germline yes - - - - DNA SEQ-NG, SEQ blood whole-exome/whole-genome sequencing retinal disease 20_JU1W9I/1 PubMed: Mizobuchi 2021 family 20, individual JU1W9I/1 F - Japan Japanese - - - - 1 LOVD
+/. - c.5797C>T r.(?) p.(Arg1933Ter) Maternal (confirmed) ACMG pathogenic g.55542239C>T g.54629679C>T RP1 c.5797C>T, (p.Arg1933Ter) - RP1_000018 compound heterozygous PubMed: Mizobuchi 2021 - - Germline yes - - - - DNA SEQ-NG, SEQ blood whole-exome/whole-genome sequencing retinal disease 21_JU1339/1 PubMed: Mizobuchi 2021 family 21, individual JU1339/1 M - Japan Japanese - - - - 1 LOVD
+/. - c.5797C>T r.(?) p.(Arg1933Ter) Paternal (confirmed) ACMG pathogenic g.55542239C>T g.54629679C>T RP1 c.5797C>T, (p.Arg1933Ter) - RP1_000018 compound heterozygous PubMed: Mizobuchi 2021 - - Germline yes - - - - DNA SEQ-NG, SEQ blood whole-exome/whole-genome sequencing retinal disease 22_JU1947/1 PubMed: Mizobuchi 2021 family 22, individual JU1947/1 M - Japan Japanese - - - - 1 LOVD
+/. - c.5797C>T r.(?) p.(Arg1933Ter) Parent #2 ACMG pathogenic g.55542239C>T g.54629679C>T RP1 c.5797C>T, (p.Arg1933Ter) - RP1_000018 compound heterozygous PubMed: Mizobuchi 2021 - - Germline yes - - - - DNA SEQ-NG, SEQ blood whole-exome/whole-genome sequencing retinal disease 23_JU1978/1 PubMed: Mizobuchi 2021 family 23, individual JU1978/1 M - Japan Japanese - - - - 1 LOVD
+/. 4 c.5797C>T r.(?) p.(Arg1933*) Parent #2 - pathogenic g.55542239C>T - c.5797C>T - RP1_000018 - PubMed: Panneman 2023 - - Unknown - - - - - DNA SEQ - RP-LCA smMIPs sequencing RP - PubMed: Panneman 2023 - M - - - - - - - 1 Daan Panneman
+/. 4 c.5797C>T r.(?) p.(Arg1933*) Parent #2 - pathogenic g.55542239C>T - c.5797C>T - RP1_000018 - PubMed: Panneman 2023 - - Unknown - - - - - DNA SEQ - RP-LCA smMIPs sequencing RP - PubMed: Panneman 2023 - F - - - - - - - 1 Daan Panneman
+/. 4 c.5797C>T r.(?) p.(Arg1933*) Both (homozygous) - pathogenic g.55542239C>T - c.5797C>T - RP1_000018 - PubMed: Panneman 2023 - - Unknown - - - - - DNA SEQ - RP-LCA smMIPs sequencing RP - PubMed: Panneman 2023 - M - - - - - - - 1 Daan Panneman
+/. - c.5797C>T r.(?) p.(Arg1933Ter) Unknown ACMG pathogenic g.55542239C>T g.54629679C>T - - RP1_000018 case unsolved PubMed: Hitti-Malin 2024, Journal: Hitti-Malin 2024 - - Germline - - - - - DNA SEQ - smMIP-based 105 iMD/AMD genes macular dystrophy 071083 PubMed: Hitti-Malin 2024, Journal: Hitti-Malin 2024 - - - - - - - - - 1 Johan den Dunnen
+/. - c.5797C>T r.(?) p.(Arg1933Ter) Unknown ACMG pathogenic g.55542239C>T g.54629679C>T - - RP1_000018 case unsolved PubMed: Hitti-Malin 2024, Journal: Hitti-Malin 2024 - - Germline - - - - - DNA SEQ - smMIP-based 105 iMD/AMD genes macular dystrophy 071087 PubMed: Hitti-Malin 2024, Journal: Hitti-Malin 2024 - - - - - - - - - 1 Johan den Dunnen
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