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.

27 entries on 1 page. Showing entries 1 - 27.
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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     
+/. 2 c.606C>A r.(?) p.(Asp202Glu) Unknown - pathogenic g.55534132C>A g.54621572C>A - - RP1_000040 - PubMed: Aldahmesh 2009 - - Germline - - - - - DNA SEQ - - retinal disease - - - - - - - - - - - 1 Johan den Dunnen
+/. 2 c.606C>A r.(?) p.(Asp202Glu) Both (homozygous) - pathogenic (recessive) g.55534132C>A g.54621572C>A - - RP1_000040 - - - - Germline ? - - - - DNA SEQ-NG-I Peripheral blood - retinal disease - - - M yes - - - - - - 1 Marta de Castro-Miró
+/. 2 c.606C>A r.(?) p.(Asp202Glu) Both (homozygous) - pathogenic g.55534132C>A g.54621572C>A - - RP1_000040 - - - - Germline - - - - - DNA SEQ-NG-I Peripheral blood - retinal disease - - - M - - - - - - - 1 Marta de Castro-Miró
+/. 2 c.606C>A r.(?) p.(Asp202Glu) Both (homozygous) - pathogenic g.55534132C>A g.54621572C>A - - RP1_000040 - - - - Germline - - - - - DNA SEQ-NG-I Peripheral blood - retinal disease - - - M - - - - - - - 1 Marta de Castro-Miró
+?/. - c.606C>A r.(?) p.(Asp202Glu) Unknown - likely pathogenic g.55534132C>A g.54621572C>A - - RP1_000040 - PubMed: Patel 2016 - - Germline - - - - - DNA SEQ-NG - gene panel retinal disease 13DG1132 PubMed: Patel 2016 - - - Saudi Arabia - - - - - 1 LOVD
?/. 2 c.606C>A r.(?) p.(Asp202Glu) Both (homozygous) - VUS g.55534132C>A - c.606C>A - RP1_000040 - PubMed: Abu-Safieh-2013 - - Germline - - - - - DNA SEQ-NG blood exome sequencing retinal disease - PubMed: Abu-Safieh-2013 - - - Saudi Arabia - - - - - 3 LOVD
+?/. - c.606C>A r.(?) p.(Asp202Glu) Both (homozygous) - likely pathogenic g.55534132C>A g.54621572C>A p.Asp202Glu:c.606C/A in RP1(homozygous); p.Gly2017Val:c.6050G/T(homozygous) in EYS - RP1_000040 - PubMed: Hariri 2018 - - Germline ? - - - - DNA SEQ - retrospective analysis retinal disease - PubMed: Hariri 2018 - ? - - - - - - - 1 LOVD
+?/. - c.606C>A r.(?) p.(Asp202Glu) Both (homozygous) - likely pathogenic g.55534132C>A g.54621572C>A RP1 c.606C>A, p.Asp202Glu - RP1_000040 homozygous PubMed: Zampaglione 2020 - - Unknown ? - - - - DNA SEQ-NG-I, SEQ blood - retinal disease OGI2914_004499 PubMed: Zampaglione 2020 - ? - - - - - - - 1 LOVD
+?/. - c.606C>A r.(?) p.(Asp202Glu) Unknown - likely pathogenic g.55534132C>A g.54621572C>A c.606C>A, p.Asp202Glu - RP1_000040 heterozygous PubMed: Zampaglione 2020 - - Unknown ? - - - - DNA SEQ-NG-I, SEQ blood - retinal disease OGI2914_004499 PubMed: Zampaglione 2020 - ? - - - - - - - 1 LOVD
+/. - c.606C>A r.(?) p.(Asp202Glu) Both (homozygous) - pathogenic (recessive) g.55534132C>A - - - RP1_000040 - PubMed: Aldahmesh 2009 - - Germline yes - - - - DNA SEQ - - retinal disease DGU-F2 PubMed: Aldahmesh 2009 2-generation family, 4 affected (3F, M) F;M yes Saudi Arabia - - - - - 4 Johan den Dunnen
+?/. - c.606C>A r.(?) p.(Asp202Glu) Both (homozygous) - likely pathogenic g.55534132C>A g.54621572C>A RP1 c.606C>A (p.Asp202Glu) - RP1_000040 homozygous PubMed: Riera 2020 - - Germline yes - - - - DNA SEQ blood whole exome sequencing retinal disease K1_IV:1 PubMed: Riera 2020 family K1, individual IV:1 - - - - - - - - 1 LOVD
+?/. - c.606C>A r.(?) p.(Asp202Glu) Both (homozygous) - likely pathogenic g.55534132C>A g.54621572C>A RP1 c.606C>A (p.Asp202Glu) - RP1_000040 homozygous PubMed: Riera 2020 - - Germline yes - - - - DNA SEQ blood whole exome sequencing retinal disease K2_II:17 PubMed: Riera 2020 family K2, individual II:17 - - - - - - - - 1 LOVD
+?/. - c.606C>A r.(?) p.(Asp202Glu) Both (homozygous) - likely pathogenic g.55534132C>A g.54621572C>A RP1 c.606C>A (p.Asp202Glu) - RP1_000040 homozygous PubMed: Riera 2020 - - Germline yes - - - - DNA SEQ blood whole exome sequencing retinal disease K3_III:6 PubMed: Riera 2020 family K3, individual III:6 - - - - - - - - 1 LOVD
+?/. - c.606C>A r.(?) p.(Asp202Glu) Both (homozygous) - likely pathogenic g.55534132C>A g.54621572C>A RP1 c.606C>A (p.Asp202Glu) - RP1_000040 homozygous PubMed: Riera 2020 - - Germline yes - - - - DNA SEQ blood whole exome sequencing retinal disease K4_IV:4 PubMed: Riera 2020 family K4, individual IV:4 - - - - - - - - 1 LOVD
+?/. - c.606C>A r.(?) p.(Asp202Glu) Both (homozygous) - likely pathogenic g.55534132C>A g.54621572C>A RP1 c.606C>A (p.Asp202Glu) - RP1_000040 homozygous PubMed: Riera 2020 - - Germline yes - - - - DNA SEQ blood whole exome sequencing retinal disease K4_IV:6 PubMed: Riera 2020 family K4, individual IV:6 - - - - - - - - 1 LOVD
+?/. - c.606C>A r.(?) p.(Asp202Glu) Both (homozygous) - likely pathogenic g.55534132C>A g.54621572C>A RP1 c.606C>A (p.Asp202Glu) - RP1_000040 homozygous PubMed: Riera 2020 - - Germline yes - - - - DNA SEQ blood whole exome sequencing retinal disease K5_III:2 PubMed: Riera 2020 family K5, individual III:2 - - - - - - - - 1 LOVD
+?/. - c.606C>A r.(?) p.(Asp202Glu) Both (homozygous) - likely pathogenic g.55534132C>A g.54621572C>A RP1 c.606C>A (p.Asp202Glu) - RP1_000040 homozygous PubMed: Riera 2020 - - Germline yes - - - - DNA SEQ blood whole exome sequencing retinal disease K6_III:4 PubMed: Riera 2020 family K6, individual III:4 - - - - - - - - 1 LOVD
+?/. - c.606C>A r.(?) p.(Asp202Glu) Both (homozygous) - likely pathogenic g.55534132C>A g.54621572C>A RP1 c.606C>A (p.Asp202Glu) - RP1_000040 homozygous PubMed: Riera 2020 - - Germline yes - - - - DNA SEQ blood whole exome sequencing retinal disease K7_III:8 PubMed: Riera 2020 family K7, individual III:8 - - - - - - - - 1 LOVD
+?/. - c.606C>A r.(?) p.(Asp202Glu) Both (homozygous) - likely pathogenic g.55534132C>A g.54621572C>A RP1 c.606C>A (p.Asp202Glu) - RP1_000040 homozygous PubMed: Riera 2020 - - Germline yes - - - - DNA SEQ blood whole exome sequencing retinal disease K8_IV:3 PubMed: Riera 2020 family K8, individual IV:3 - - - - - - - - 1 LOVD
+?/. - c.606C>A r.(?) p.(Asp202Glu) Both (homozygous) - likely pathogenic g.55534132C>A g.54621572C>A RP1 c.606C>A (p.Asp202Glu) - RP1_000040 homozygous PubMed: Riera 2020 - - Germline yes - - - - DNA SEQ blood whole exome sequencing retinal disease K9_III:6 PubMed: Riera 2020 family K9, individual III:6 - - - - - - - - 1 LOVD
+?/. - c.606C>A r.(?) p.(Asp202Glu) Both (homozygous) - likely pathogenic g.55534132C>A g.54621572C>A RP1 c.606C>A (p.Asp202Glu) - RP1_000040 homozygous PubMed: Riera 2020 - - Germline yes - - - - DNA SEQ blood whole exome sequencing retinal disease K10_III:10 PubMed: Riera 2020 family K10, individual III:10 - - - - - - - - 1 LOVD
+?/. - c.606C>A r.(?) p.(Asp202Glu) Both (homozygous) - likely pathogenic g.55534132C>A g.54621572C>A RP1 c.606C>A (p.Asp202Glu) - RP1_000040 homozygous PubMed: Riera 2020 - - Germline yes - - - - DNA SEQ blood whole exome sequencing retinal disease K11_II:3 PubMed: Riera 2020 family K11, individual II:3 - - - - - - - - 1 LOVD
+?/. - c.606C>A r.(?) p.(Asp202Glu) Both (homozygous) - likely pathogenic g.55534132C>A g.54621572C>A RP1 c.606C>A (p.Asp202Glu) - RP1_000040 homozygous PubMed: Riera 2020 - - Germline yes - - - - DNA SEQ blood whole exome sequencing retinal disease K12_III:1 PubMed: Riera 2020 family K12, individual III:1 - - - - - - - - 1 LOVD
+?/. - c.606C>A r.(?) p.(Asp202Glu) Both (homozygous) ACMG likely pathogenic g.55534132C>A g.54621572C>A RP1 c.606C>A, p.(Asp202Glu) - RP1_000040 homozygous PubMed: Huckfeldt 2020 - - Germline/De novo (untested) ? - - - - DNA SEQ-NG, SEQ blood targeted sequencing followed by verification by Sanger sequencing retinal disease MEE1 PubMed: Huckfeldt 2020 sibling of MEE2 M - - - - - - - 1 LOVD
+?/. - c.606C>A r.(?) p.(Asp202Glu) Both (homozygous) ACMG likely pathogenic g.55534132C>A g.54621572C>A RP1 c.606C>A, p.(Asp202Glu) - RP1_000040 homozygous PubMed: Huckfeldt 2020 - - Germline/De novo (untested) ? - - - - DNA SEQ-NG, SEQ blood targeted sequencing followed by verification by Sanger sequencing retinal disease MEE2 PubMed: Huckfeldt 2020 sibling of MEE1 M - - - - - - - 1 LOVD
+?/. - c.606C>A r.(?) p.(Asp202Glu) Both (homozygous) ACMG likely pathogenic g.55534132C>A g.54621572C>A RP1 c.606C>A, p.(Asp202Glu) - RP1_000040 homozygous PubMed: Huckfeldt 2020 - - Germline yes - - - - DNA SEQ-NG, SEQ blood targeted sequencing followed by verification by Sanger sequencing retinal disease MEE3 PubMed: Huckfeldt 2020 - M - - - - - - - 1 LOVD
+?/. - c.606C>A r.(?) p.(Asp202Glu) Both (homozygous) ACMG likely pathogenic g.55534132C>A g.54621572C>A RP1 c.606C>A, p.(Asp202Glu) - RP1_000040 homozygous PubMed: Huckfeldt 2020 - - Germline yes - - - - DNA SEQ-NG, SEQ blood targeted sequencing followed by verification by Sanger sequencing retinal disease MEE4 PubMed: Huckfeldt 2020 - F - - - - - - - 1 LOVD
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