Full data view for gene RHO

This database is one of the "Eye disease" gene variant databases.
Information The variants shown are described using the NM_000539.3 transcript reference sequence.

21 entries on 1 page. Showing entries 1 - 21.
Legend   How to query  

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     
+/. - c.562G>A r.(?) p.(Gly188Arg) Unknown - pathogenic g.129251125G>A g.129532282G>A - - RHO_000055 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 - rs527236100 Germline - 1/1204 cases with retinitis pigmentosa - - - DNA SEQ-NG - - retinal disease - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 analysis 1204 retinitis pigmentosa cases - - Japan - - - - - 1 Yoshito Koyanagi
+/. 3 c.562G>A r.(?) p.(Gly188Arg) Unknown - pathogenic (dominant) g.129251125G>A g.129532282G>A - - RHO_000055 - PubMed: Fernandez 2014 - - Germline yes - - - - DNA DGGE, SEQ - - retinal disease RP‐0352 PubMed: Fernandez 2014 - - - Spain - - - - - 1 LOVD
+/. - c.562G>A r.(?) p.(Gly188Arg) Parent #1 - pathogenic g.129251125G>A g.129532282G>A - - RHO_000055 - PubMed: Oishi 2014 - - Germline - - - - - DNA SEQ-NG - 193-gene panel retinal disease K6381 PubMed: Oishi 2014 family - - Japan - - - - - 1 LOVD
+?/. - c.562G>A r.(?) p.(Gly188Arg) Parent #1 - likely pathogenic g.129251125G>A g.129532282G>A - - RHO_000055 - PubMed: Wang 2014 - - Germline - - - - - DNA SEQ-NG - 66-gene panel retinal disease 49 PubMed: Wang 2014 - F - United States - - - - - 1 LOVD
+?/. 3 c.562G>A r.(?) p.(Gly188Arg) Unknown - likely pathogenic g.129251125G>A g.129532282G>A - - RHO_000055 - PubMed: Martin-Merida 2018 - - Germline ? 1/258 - - - DNA ? - various screening techniques within publication, not mentioned which particular individual had which techniques: SSCA, DGGE, arraySNP, SEQ-NG, WES retinal disease ? PubMed: Martin-Merida 2018 - - - Spain - - - - - 1 LOVD
+/. 3 c.562G>A r.(?) p.(Gly188Arg) Unknown - pathogenic g.129251125G>A - Gly188Arg - RHO_000055 - PubMed: Bunge_1993 - - Unknown - - - - - DNA PCR, SSCA blood - retinal disease - PubMed: Bunge_1993 - - - - - - - - - 1 LOVD
+?/. - c.562G>A r.(?) p.(Gly188Arg) Maternal (confirmed) - likely pathogenic (dominant) g.129251125G>A g.129532282G>A RHO codon 188, sequence: GGA->AGA, amino acid change: Gly->Arg - RHO_000055 heterozygous PubMed: Dryja 1991 - - Germline yes - - - - DNA SSCA - - retinal disease fam6995patIII:2 PubMed: Dryja 1991 proband M - United States - - - - - 1 LOVD
+?/. - c.562G>A r.(?) p.(Gly188Arg) Paternal (inferred) - likely pathogenic (dominant) g.129251125G>A g.129532282G>A RHO codon 188, sequence: GGA->AGA, amino acid change: Gly->Arg - RHO_000055 heterozygous PubMed: Dryja 1991 - - Germline yes - - - - DNA SSCA - - retinal disease fam6995patII:2 PubMed: Dryja 1991 - F - United States - - - - - 1 LOVD
+?/. - c.562G>A r.(?) p.(Gly188Arg) Maternal (confirmed) - likely pathogenic (dominant) g.129251125G>A g.129532282G>A RHO codon 188, sequence: GGA->AGA, amino acid change: Gly->Arg - RHO_000055 heterozygous PubMed: Dryja 1991 - - Germline yes - - - - DNA SSCA - - retinal disease fam6995patIII:4 PubMed: Dryja 1991 - F - United States - - - - - 1 LOVD
+?/. - c.562G>A r.(?) p.(Gly188Arg) Paternal (confirmed) - likely pathogenic (dominant) g.129251125G>A g.129532282G>A RHO codon 188, sequence: GGA->AGA, amino acid change: Gly->Arg - RHO_000055 heterozygous PubMed: Dryja 1991 - - Germline yes - - - - DNA SSCA - - retinal disease fam6995patIV:1 PubMed: Dryja 1991 - F - United States - - - - - 1 LOVD
+?/. - c.562G>A r.(?) p.(Gly188Arg) Unknown - likely pathogenic (dominant) g.129251125G>A g.129532282G>A RHO c.562G>A p.G188R - RHO_000055 heterozygous PubMed: Luo 2020 - - Germline yes - - - - DNA SEQ-NG, SEQ blood whole exome sequencing or targeted exome sequencing retinal disease 6534 II: 3 PubMed: Luo 2020 - F - China - - - - - 1 LOVD
+?/. - c.562G>A r.(?) p.(Gly188Arg) Unknown - likely pathogenic (dominant) g.129251125G>A g.129532282G>A RHO c.562G>A p.G188R - RHO_000055 heterozygous PubMed: Luo 2020 - - Germline yes - - - - DNA SEQ-NG, SEQ blood whole exome sequencing or targeted exome sequencing retinal disease 6534 II: 12 PubMed: Luo 2020 - M - China - - - - - 1 LOVD
+?/. - c.562G>A r.(?) p.(Gly188Arg) Unknown - likely pathogenic (dominant) g.129251125G>A g.129532282G>A RHO c.562G>A p.G188R - RHO_000055 heterozygous PubMed: Luo 2020 - - Germline yes - - - - DNA SEQ-NG, SEQ blood whole exome sequencing or targeted exome sequencing retinal disease 6534 II: 6 PubMed: Luo 2020 - M - China - - - - - 1 LOVD
+?/. - c.562G>A r.(?) p.(Gly188Arg) Unknown - likely pathogenic (dominant) g.129251125G>A g.129532282G>A RHO c.562G>A p.G188R - RHO_000055 heterozygous PubMed: Luo 2020 - - Germline yes - - - - DNA SEQ-NG, SEQ blood whole exome sequencing or targeted exome sequencing retinal disease 6534 III: 1 PubMed: Luo 2020 - M - China - - - - - 1 LOVD
+?/. - c.562G>A r.(?) p.(Gly188Arg) Unknown - likely pathogenic (dominant) g.129251125G>A g.129532282G>A RHO c.562G>A p.G188R - RHO_000055 heterozygous PubMed: Luo 2020 - - Germline yes - - - - DNA SEQ-NG, SEQ blood whole exome sequencing or targeted exome sequencing retinal disease 6534 III: 3 PubMed: Luo 2020 - M - China - - - - - 1 LOVD
+?/. - c.562G>A r.(?) p.(Gly188Arg) Unknown - likely pathogenic (dominant) g.129251125G>A g.129532282G>A RHO c.562G>A p.G188R - RHO_000055 heterozygous PubMed: Luo 2020 - - Germline yes - - - - DNA SEQ-NG, SEQ blood whole exome sequencing or targeted exome sequencing retinal disease 6534 III: 4 PubMed: Luo 2020 - M - China - - - - - 1 LOVD
+?/. - c.562G>A r.(?) p.(Gly188Arg) Unknown - likely pathogenic (dominant) g.129251125G>A g.129532282G>A RHO c.562G>A p.G188R - RHO_000055 heterozygous PubMed: Luo 2020 - - Germline yes - - - - DNA SEQ-NG, SEQ blood whole exome sequencing or targeted exome sequencing retinal disease 6534 III: 7 PubMed: Luo 2020 - M - China - - - - - 1 LOVD
+?/. - c.562G>A r.(?) p.(Gly188Arg) Unknown - likely pathogenic (dominant) g.129251125G>A g.129532282G>A RHO c.562G>A p.G188R - RHO_000055 heterozygous PubMed: Luo 2020 - - Germline yes - - - - DNA SEQ-NG, SEQ blood whole exome sequencing or targeted exome sequencing retinal disease 6534 III: 15 PubMed: Luo 2020 - F - China - - - - - 1 LOVD
+?/. - c.562G>A r.(?) p.(Gly188Arg) Unknown - likely pathogenic (dominant) g.129251125G>A g.129532282G>A RHO c.562G>A p.G188R - RHO_000055 heterozygous PubMed: Luo 2020 - - Germline yes - - - - DNA SEQ-NG, SEQ blood whole exome sequencing or targeted exome sequencing retinal disease 6534 III: 16 PubMed: Luo 2020 - F - China - - - - - 1 LOVD
+?/. - c.562G>A r.(?) p.(Gly188Arg) Unknown - likely pathogenic (dominant) g.129251125G>A g.129532282G>A RHO c.562G>A p.G188R - RHO_000055 heterozygous PubMed: Luo 2020 - - Germline yes - - - - DNA SEQ-NG, SEQ blood whole exome sequencing or targeted exome sequencing retinal disease 6534 IV: 2 PubMed: Luo 2020 - M - China - - - - - 1 LOVD
+/. 3 c.562G>A r.(?) p.(Gly188Arg) Unknown - pathogenic g.129251125G>A - c.562G>A - RHO_000055 - PubMed: Panneman 2023 - - Unknown - - - - - DNA SEQ - RP-LCA smMIPs sequencing RP - PubMed: Panneman 2023 - F - - - - - - - 1 Daan Panneman
Legend   How to query  


Screenscraping/webscraping (downloading large amounts of data using scripts) is strictly prohibited.
Use our APIs to retrieve data.