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.

50 entries on 1 page. Showing entries 1 - 50.
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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     

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Age at death     

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+/. - c.568G>A r.(?) p.(Asp190Asn) Unknown - pathogenic g.129251131G>A g.129532288G>A - - RHO_000056 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 - rs104893779 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
+/. - c.568G>A r.(?) p.(Asp190Asn) Unknown - pathogenic g.129251131G>A g.129532288G>A RHO(NM_000539.3):c.568G>A (p.D190N) - RHO_000056 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.568G>A r.(?) p.(Asp190Asn) Unknown - pathogenic g.129251131G>A g.129532288G>A RHO(NM_000539.3):c.568G>A (p.D190N) - RHO_000056 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 3 c.568G>A r.(?) p.(Asp190Asn) Parent #1 - pathogenic (dominant) g.129251131G>A - - - RHO_000056 - PubMed: Sohocki 2001 - - Germline - - - - - DNA SSCA, SEQ - - retinal disease - PubMed: Sohocki 2001 - - - - - - - - - 1 Julia Lopez
+/. - c.568G>A r.(?) p.(Asp190Asn) Parent #1 - pathogenic g.129251131G>A g.129532288G>A - - RHO_000056 - PubMed: Costa 2017 - - Germline - - - - - DNA SEQ-NG - 132-gene panel retinal disease Pat10 PubMed: Costa 2017 - F - Brazil - - - - - 1 LOVD
+/. 3 c.568G>A r.(?) p.(Asp190Asn) Parent #1 - pathogenic g.129251131G>A - 568G>A - RHO_000056 - PubMed: Sullivan 2006 - - Germline yes - - - - DNA SEQ - - retinal disease - PubMed: Sullivan 2006 2 families - - United States - - - - - 2 Julia Lopez
+/. - c.568G>A r.(?) p.(Asp190Asn) Parent #1 - pathogenic (dominant) g.129251131G>A g.129532288G>A - - RHO_000056 - PubMed: Ezquerra-Inchausti 2017 - - Germline - - - - - DNA SEQ-NG - 31-gene panel retinal disease RP135 PubMed: Ezquerra-Inchausti 2017 - - - Spain - - - - - 1 LOVD
+?/. - c.568G>A r.(?) p.(Asp190Asn) Unknown - likely pathogenic g.129251131G>A g.129532288G>A - - RHO_000056 - PubMed: Ellingford 2016 - - Germline - - - - - DNA SEQ - 105-gene panel retinal disease 12007876 PubMed: Ellingford 2016 patient - - - - - - - - 1 LOVD
+?/. 3 c.568G>A r.(?) p.(Asp190Asn) Unknown - likely pathogenic (recessive) g.129251131G>A - c.568G>A - RHO_000056 - PubMed: Kim-2012 - - Germline - 1/336 cases; 0/360 controls - - - DNA PCR blood - retinal disease - PubMed: Kim-2012 - M - China - - - - - 1 LOVD
+/. - c.568G>A r.(?) p.(Asp190Asn) Unknown - pathogenic g.129251131G>A - RHO(NM_000539.3):c.568G>A (p.D190N) - RHO_000056 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.568G>A r.(?) p.(Asp190Asn) Unknown - likely pathogenic g.129251131G>A g.129532288G>A RHO c.568G>A, p.D190N - RHO_000056 heterozygous PubMed: Jauregui 2020 - - Unknown ? - - - - DNA SEQ-NG blood targeted sequencing retinal disease 26 PubMed: Jauregui 2020 - M - (United States) white - - - - 1 LOVD
+/. - c.568G>A r.(?) p.(Asp190Asn) Paternal (inferred) - pathogenic g.129251131G>A g.129532288G>A RHO /c.568G>A(p.Asp190Asn) - RHO_000056 - PubMed: Verdina 2021 - - Germline yes - - - - DNA SEQ-NG blood panel of 137 genes associated with retinal dystrophies retinal disease P1 PubMed: Verdina 2021 family A, brother of P2 F - Italy - - - - - 1 LOVD
+/. - c.568G>A r.(?) p.(Asp190Asn) Paternal (inferred) - pathogenic g.129251131G>A g.129532288G>A RHO /c.568G>A(p.Asp190Asn) - RHO_000056 - PubMed: Verdina 2021 - - Germline yes - - - - DNA SEQ-NG blood panel of 137 genes associated with retinal dystrophies retinal disease P2 PubMed: Verdina 2021 family A, sister of P1 M - Italy - - - - - 1 LOVD
+/. - c.568G>A r.(?) p.(Asp190Asn) Unknown - pathogenic g.129251131G>A g.129532288G>A RHO/c.568G>A(p.Asp190Asn) - RHO_000056 - PubMed: Verdina 2021 - - Germline yes - - - - DNA SEQ-NG blood panel of 137 genes associated with retinal dystrophies retinal disease P5 PubMed: Verdina 2021 - M - Italy - - - - - 1 LOVD
+/. - c.568G>A r.(?) p.(Asp190Asn) Unknown - pathogenic g.129251131G>A g.129532288G>A RHO /c.568G>A(p.Asp190Asn) - RHO_000056 - PubMed: Verdina 2021 - - Germline yes - - - - DNA SEQ-NG blood panel of 137 genes associated with retinal dystrophies retinal disease P6 PubMed: Verdina 2021 - M - Italy - - - - - 1 LOVD
+/. - c.568G>A r.(?) p.(Asp190Asn) Paternal (inferred) - pathogenic g.129251131G>A g.129532288G>A RHO /c.568G>A (p.Asp190Asn) - RHO_000056 - PubMed: Verdina 2021 - - Germline yes - - - - DNA SEQ-NG blood panel of 137 genes associated with retinal dystrophies retinal disease P9 PubMed: Verdina 2021 family S, father of P10 , P11, brother of P13 M - Italy - - - - - 1 LOVD
+/. - c.568G>A r.(?) p.(Asp190Asn) Paternal (confirmed) - pathogenic g.129251131G>A g.129532288G>A RHO /c.568G>A (p.Asp190Asn) - RHO_000056 - PubMed: Verdina 2021 - - Germline yes - - - - DNA SEQ-NG blood panel of 137 genes associated with retinal dystrophies retinal disease P11 PubMed: Verdina 2021 family S, daughter of P9 F - Italy - - - - - 1 LOVD
+/. - c.568G>A r.(?) p.(Asp190Asn) Paternal (confirmed) - pathogenic g.129251131G>A g.129532288G>A RHO /c.568G>A (p.Asp190Asn) - RHO_000056 - PubMed: Verdina 2021 - - Germline yes - - - - DNA SEQ-NG blood panel of 137 genes associated with retinal dystrophies retinal disease P12 PubMed: Verdina 2021 family S, daughter of P9 F - Italy - - - - - 1 LOVD
+/. - c.568G>A r.(?) p.(Asp190Asn) Paternal (confirmed) - pathogenic g.129251131G>A g.129532288G>A RHO /c.568G>A (p.Asp190Asn) - RHO_000056 - PubMed: Verdina 2021 - - Germline yes - - - - DNA SEQ-NG blood panel of 137 genes associated with retinal dystrophies retinal disease P13 PubMed: Verdina 2021 family S, brother of P9 M - Italy - - - - - 1 LOVD
+/. - c.568G>A r.(?) p.(Asp190Asn) Paternal (confirmed) - pathogenic g.129251131G>A g.129532288G>A RHO /c.568G>A (p.Asp190Asn) - RHO_000056 - PubMed: Verdina 2021 - - Germline yes - - - - DNA SEQ-NG blood panel of 137 genes associated with retinal dystrophies retinal disease P14 PubMed: Verdina 2021 family S, daughter of P13 F - Italy - - - - - 1 LOVD
+?/. - c.568G>A r.(?) p.(Asp190Asn) Unknown - likely pathogenic g.129251131G>A g.129532288G>A RHO c.568G>A, p.Asp190Asn - RHO_000056 - PubMed: Georgiou 2021 - - Unknown ? - - - - DNA SEQ-NG blood retrospective study retinal disease P21 PubMed: Georgiou 2021 pedigree ID: 3509, genetic ID: 21686 F - (United Kingdom (Great Britain)) - - - - - 1 LOVD
+?/. - c.568G>A r.(?) p.(Asp190Asn) Unknown - likely pathogenic g.129251131G>A g.129532288G>A RHO c.568G>A, p.Asp190Asn - RHO_000056 - PubMed: Georgiou 2021 - - Unknown ? - - - - DNA SEQ-NG blood retrospective study retinal disease P22 PubMed: Georgiou 2021 pedigree ID: 3509, genetic ID: 9533 M - (United Kingdom (Great Britain)) - - - - - 1 LOVD
+?/. - c.568G>A r.(?) p.(Asp190Asn) Unknown - likely pathogenic g.129251131G>A g.129532288G>A RHO c.568G>A, p.Asp190Asn - RHO_000056 - PubMed: Georgiou 2021 - - Unknown ? - - - - DNA SEQ-NG blood retrospective study retinal disease P25 PubMed: Georgiou 2021 pedigree ID: 2554, genetic ID: 9924 F - (United Kingdom (Great Britain)) - - - - - 1 LOVD
+?/. - c.568G>A r.(?) p.(Asp190Asn) Paternal (inferred) - likely pathogenic (dominant) g.129251131G>A g.129532288G>A RHO codon 190, sequence: GAC->AAC, amino acid change: Asp-->Asn - RHO_000056 heterozygous PubMed: Dryja 1991 - - Germline yes - - - - DNA SSCA - - retinal disease fam0331patIII:1 PubMed: Dryja 1991 proband M - United States - - - - - 1 LOVD
+?/. - c.568G>A r.(?) p.(Asp190Asn) Paternal (inferred) - likely pathogenic (dominant) g.129251131G>A g.129532288G>A RHO codon 190, sequence: GAC->AAC, amino acid change: Asp-->Asn - RHO_000056 heterozygous PubMed: Dryja 1991 - - Germline yes - - - - DNA SSCA - - retinal disease fam0331patIII:3 PubMed: Dryja 1991 - M - United States - - - - - 1 LOVD
+?/. - c.568G>A r.(?) p.(Asp190Asn) Paternal (inferred) - likely pathogenic (dominant) g.129251131G>A g.129532288G>A RHO codon 190, sequence: GAC->AAC, amino acid change: Asp-->Asn - RHO_000056 heterozygous PubMed: Dryja 1991 - - Germline yes - - - - DNA SSCA - - retinal disease fam0331patIII:5 PubMed: Dryja 1991 - F - United States - - - - - 1 LOVD
+?/. - c.568G>A r.(?) p.(Asp190Asn) Unknown - likely pathogenic (dominant) g.129251131G>A g.129532288G>A RHO codon 190, sequence: GAC->AAC, amino acid change: Asp-->Asn - RHO_000056 heterozygous PubMed: Dryja 1991 - - Germline yes - - - - DNA SSCA - - retinal disease fam0331patIII:6 PubMed: Dryja 1991 - F - United States - - - - - 1 LOVD
+?/. - c.568G>A r.(?) p.(Asp190Asn) Paternal (confirmed) - likely pathogenic (dominant) g.129251131G>A g.129532288G>A RHO codon 190, sequence: GAC->AAC, amino acid change: Asp-->Asn - RHO_000056 heterozygous PubMed: Dryja 1991 - - Germline yes - - - - DNA SSCA - - retinal disease fam0331patIV:1 PubMed: Dryja 1991 - M - United States - - - - - 1 LOVD
+?/. - c.568G>A r.(?) p.(Asp190Asn) Maternal (confirmed) - likely pathogenic (dominant) g.129251131G>A g.129532288G>A RHO codon 190, sequence: GAC->AAC, amino acid change: Asp-->Asn - RHO_000056 heterozygous PubMed: Dryja 1991 - - Germline yes - - - - DNA SSCA - - retinal disease fam0331patIV:2 PubMed: Dryja 1991 - M - United States - - - - - 1 LOVD
+/. 3 c.568G>A r.(?) p.(Asp190Asn) Paternal (inferred) - likely pathogenic (dominant) g.129251131G>A g.129532288G>A codon 190, nucleotide: GAC-AAC, amino acid: Asp-Asn - RHO_000056 heterozygous PubMed: Keen 1991 - - Germline yes - - - - DNA SEQ, HD - - retinal disease II:1 PubMed: Keen 1991 family ADRP25 M - United Kingdom (Great Britain) Sardinian - - - - 1 LOVD
+/. 3 c.568G>A r.(?) p.(Asp190Asn) Paternal (confirmed) - likely pathogenic (dominant) g.129251131G>A g.129532288G>A codon 190, nucleotide: GAC-AAC, amino acid: Asp-Asn - RHO_000056 heterozygous PubMed: Keen 1991 - - Germline yes - - - - DNA SEQ, HD - - retinal disease III:1 PubMed: Keen 1991 family ADRP25 F - United Kingdom (Great Britain) Sardinian - - - - 1 LOVD
+/. 3 c.568G>A r.(?) p.(Asp190Asn) Maternal (confirmed) - likely pathogenic (dominant) g.129251131G>A g.129532288G>A codon 190, nucleotide: GAC-AAC, amino acid: Asp-Asn - RHO_000056 heterozygous PubMed: Keen 1991 - - Germline yes - - - - DNA SEQ, HD - - retinal disease IV:2 PubMed: Keen 1991 family ADRP25 F - United Kingdom (Great Britain) Sardinian - - - - 1 LOVD
+/. 3 c.568G>A r.(?) p.(Asp190Asn) Paternal (confirmed) - likely pathogenic (dominant) g.129251131G>A g.129532288G>A codon 190, nucleotide: GAC-AAC, amino acid: Asp-Asn - RHO_000056 heterozygous PubMed: Keen 1991 - - Germline yes - - - - DNA SEQ, HD - - retinal disease III:3 PubMed: Keen 1991 family ADRP25 F - United Kingdom (Great Britain) Sardinian - - - - 1 LOVD
+/. 3 c.568G>A r.(?) p.(Asp190Asn) Maternal (confirmed) - likely pathogenic (dominant) g.129251131G>A g.129532288G>A codon 190, nucleotide: GAC-AAC, amino acid: Asp-Asn - RHO_000056 heterozygous PubMed: Keen 1991 - - Germline yes - - - - DNA SEQ, HD - - retinal disease IV:3 PubMed: Keen 1991 family ADRP25 F - United Kingdom (Great Britain) Sardinian - - - - 1 LOVD
+/. 3 c.568G>A r.(?) p.(Asp190Asn) Maternal (confirmed) - likely pathogenic (dominant) g.129251131G>A g.129532288G>A codon 190, nucleotide: GAC-AAC, amino acid: Asp-Asn - RHO_000056 heterozygous PubMed: Keen 1991 - - Germline yes - - - - DNA SEQ, HD - - retinal disease IV:4 PubMed: Keen 1991 family ADRP25 M - United Kingdom (Great Britain) Sardinian - - - - 1 LOVD
+/. 3 c.568G>A r.(?) p.(Asp190Asn) Maternal (confirmed) - likely pathogenic (dominant) g.129251131G>A g.129532288G>A codon 190, nucleotide: GAC-AAC, amino acid: Asp-Asn - RHO_000056 heterozygous PubMed: Keen 1991 - - Germline yes - - - - DNA SEQ, HD - - retinal disease IV:5 PubMed: Keen 1991 family ADRP25 F - United Kingdom (Great Britain) Sardinian - - - - 1 LOVD
+/. 3 c.568G>A r.(?) p.(Asp190Asn) Paternal (confirmed) - likely pathogenic (dominant) g.129251131G>A g.129532288G>A codon 190, nucleotide: GAC-AAC, amino acid: Asp-Asn - RHO_000056 heterozygous PubMed: Keen 1991 - - Germline yes - - - - DNA SEQ, HD - - retinal disease III:5 PubMed: Keen 1991 family ADRP25 M - United Kingdom (Great Britain) Sardinian - - - - 1 LOVD
+/. 3 c.568G>A r.(?) p.(Asp190Asn) Paternal (confirmed) - likely pathogenic (dominant) g.129251131G>A g.129532288G>A codon 190, nucleotide: GAC-AAC, amino acid: Asp-Asn - RHO_000056 heterozygous PubMed: Keen 1991 - - Germline yes - - - - DNA SEQ, HD - - retinal disease III:6 PubMed: Keen 1991 family ADRP25 M - United Kingdom (Great Britain) Sardinian - - - - 1 LOVD
+/. 3 c.568G>A r.(?) p.(Asp190Asn) Paternal (inferred) - likely pathogenic (dominant) g.129251131G>A g.129532288G>A codon 190, nucleotide: GAC-AAC, amino acid: Asp-Asn - RHO_000056 heterozygous PubMed: Keen 1991 - - Germline yes - - - - DNA SEQ, HD - - retinal disease II:3 PubMed: Keen 1991 family ADRP25 M - United Kingdom (Great Britain) Sardinian - - - - 1 LOVD
+/. 3 c.568G>A r.(?) p.(Asp190Asn) Paternal (confirmed) - likely pathogenic (dominant) g.129251131G>A g.129532288G>A codon 190, nucleotide: GAC-AAC, amino acid: Asp-Asn - RHO_000056 heterozygous PubMed: Keen 1991 - - Germline yes - - - - DNA SEQ, HD - - retinal disease III:7 PubMed: Keen 1991 family ADRP25 F - United Kingdom (Great Britain) Sardinian - - - - 1 LOVD
+/. 3 c.568G>A r.(?) p.(Asp190Asn) Maternal (confirmed) - likely pathogenic (dominant) g.129251131G>A g.129532288G>A codon 190, nucleotide: GAC-AAC, amino acid: Asp-Asn - RHO_000056 heterozygous PubMed: Keen 1991 - - Germline yes - - - - DNA SEQ, HD - - retinal disease IV:9 PubMed: Keen 1991 family ADRP25 M - United Kingdom (Great Britain) Sardinian - - - - 1 LOVD
+/. 3 c.568G>A r.(?) p.(Asp190Asn) Unknown - likely pathogenic (dominant) g.129251131G>A g.129532288G>A codon 190, nucleotide: GAC-AAC, amino acid: Asp-Asn - RHO_000056 heterozygous PubMed: Keen 1991 - - Germline yes - - - - DNA SEQ, HD, RFLP - - retinal disease ? PubMed: Keen 1991 family ADRP30 ? - United Kingdom (Great Britain) Sardinian - - - - 1 LOVD
+/. - c.568G>A r.(?) p.(Asp190Asn) Unknown - likely pathogenic (dominant) g.129251131G>A g.129532288G>A RHO codon: 190, sequence: GAC-AAC, protein: Asp-Asn - RHO_000056 heterozygous PubMed: Fishman 1992 - - Germline yes - - - - DNA DGGE blood - retinal disease famIIIpatII-4 PubMed: Fishman 1992 Family III, proband's mother F - United States - - - - - 1 LOVD
+/. - c.568G>A r.(?) p.(Asp190Asn) Maternal (confirmed) - likely pathogenic (dominant) g.129251131G>A g.129532288G>A RHO codon: 190, sequence: GAC-AAC, protein: Asp-Asn - RHO_000056 heterozygous PubMed: Fishman 1992 - - Germline yes - - - - DNA DGGE blood - retinal disease famIIIpatIII-1 PubMed: Fishman 1992 Family III, proband's sister F - United States - - - - - 1 LOVD
+/. - c.568G>A r.(?) p.(Asp190Asn) Maternal (confirmed) - likely pathogenic (dominant) g.129251131G>A g.129532288G>A RHO codon: 190, sequence: GAC-AAC, protein: Asp-Asn - RHO_000056 heterozygous PubMed: Fishman 1992 - - Germline yes - - - - DNA DGGE blood - retinal disease famIIIpatIII-2 PubMed: Fishman 1992 Family III, proband F - United States Irish - - - - 1 LOVD
+/. - c.568G>A r.(?) p.(Asp190Asn) Maternal (confirmed) - likely pathogenic (dominant) g.129251131G>A g.129532288G>A RHO codon: 190, sequence: GAC-AAC, protein: Asp-Asn - RHO_000056 heterozygous PubMed: Fishman 1992 - - Germline yes - - - - DNA DGGE blood - retinal disease famIIIpatIV-2 PubMed: Fishman 1992 Family III, proband's sister's daughter F - United States - - - - - 1 LOVD
+?/. - c.568G>A r.(?) p.(Asp190Asn) Maternal (inferred) - likely pathogenic (dominant) g.129251131G>A g.129532288G>A RHO D190N - RHO_000056 heterozygous; no nucleotide annotation, extrapolated from protein and databases PubMed: Tsui 2008 - - Germline yes - - - - DNA SEQ blood - retinal disease Case 1 PubMed: Tsui 2008 proband M - - - - - - - 1 LOVD
+?/. - c.568G>A r.(?) p.(Asp190Asn) Paternal (confirmed) - likely pathogenic (dominant) g.129251131G>A g.129532288G>A RHO D190N - RHO_000056 heterozygous; no nucleotide annotation, extrapolated from protein and databases PubMed: Tsui 2008 - - Germline yes - - - - DNA SEQ blood - retinal disease Case 2 PubMed: Tsui 2008 proband's son 1 M - - - - - - - 1 LOVD
+?/. - c.568G>A r.(?) p.(Asp190Asn) Paternal (confirmed) - likely pathogenic (dominant) g.129251131G>A g.129532288G>A RHO D190N - RHO_000056 heterozygous; no nucleotide annotation, extrapolated from protein and databases PubMed: Tsui 2008 - - Germline yes - - - - DNA SEQ blood - retinal disease Case 4 PubMed: Tsui 2008 proband's son 3 M - - - - - - - 1 LOVD
+?/. - c.568G>A r.(?) p.(Asp190Asn) Unknown - likely pathogenic (dominant) g.129251131G>A g.129532288G>A RHO c.568G>A p.D190N - RHO_000056 heterozygous PubMed: Luo 2020 - - Unknown yes - - - - DNA SEQ-NG, SEQ blood whole exome sequencing or targeted exome sequencing retinal disease 13466 II: 1 PubMed: Luo 2020 - F - China - - - - - 1 LOVD
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