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.

35 entries on 1 page. Showing entries 1 - 35.
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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     

Country     

Population     

Age at death     

VIP     

Data_av     

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Owner     
+/. - c.173C>G r.(?) p.(Thr58Arg) Parent #2 - pathogenic g.129247749C>G g.129528906C>G - - RHO_000130 - PubMed: Comander 2017 - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - - - - 1 Global Variome, with Curator vacancy
+/. 1 c.173C>G r.(?) p.(Thr58Arg) Parent #1 - pathogenic g.129247749C>G - 173C>G - RHO_000130 Transmembrane site PubMed: Sullivan 2006 - - Germline yes - - - - DNA SEQ - - retinal disease - PubMed: Sullivan 2006 1 family - - United States - - - - - 1 Julia Lopez
+/. 1 c.173C>G r.(?) p.(Thr58Arg) Unknown - pathogenic (dominant) g.129247749C>G g.129528906C>G - - RHO_000130 - PubMed: Fernandez 2014 - - Germline - - - - - DNA DGGE, SEQ - - retinal disease RP‐0820 PubMed: Fernandez 2014 - - - Spain - - - - - 1 LOVD
+/. 1 c.173C>G r.(?) p.(Thr58Arg) Unknown - pathogenic (dominant) g.129247749C>G g.129528906C>G - - RHO_000130 - PubMed: Fernandez 2014 - - Germline - - - - - DNA arraySEQ - RP chip retinal disease RP‐1908 PubMed: Fernandez 2014 - - - Spain - - - - - 1 LOVD
+?/. 1 c.173C>G r.(?) p.(Thr58Arg) Unknown - likely pathogenic g.129247749C>G g.129528906C>G - - RHO_000130 - PubMed: Martin-Merida 2018 - - Germline ? 2/258 - - - 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
+?/. 1 c.173C>G r.(?) p.(Thr58Arg) Unknown - likely pathogenic g.129247749C>G g.129528906C>G - - RHO_000130 - PubMed: Martin-Merida 2018 - - Germline ? 2/258 - - - 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
+/. 1 c.173C>G r.(?) p.(Thr58Arg) Unknown - pathogenic g.129247749C>G - Thr58Arg - RHO_000130 - PubMed: Bunge_1993 - - Unknown - - - - - DNA PCR, SSCA blood - retinal disease - PubMed: Bunge_1993 - - - - australian - - - - 1 LOVD
+?/. 1 c.173C>G r.(?) p.(Thr58Arg) Unknown - likely pathogenic g.129247749C>G - c.173C>G - RHO_000130 - PubMed: Sullivan-2013 - - Unknown - - - - - DNA SEQ, PCR blood - retinal disease - PubMed: Sullivan-2013 - - no - - - - - - 1 LOVD
+?/. - c.173C>G r.(?) p.(Thr58Arg) Unknown - likely pathogenic g.129247749C>G g.129528906C>G RHO c.173C>G, p.Thr58Arg - RHO_000130 heterozygous PubMed: Zampaglione 2020 - - Unknown ? - - - - DNA SEQ-NG-I, SEQ blood - retinal disease 001-591 PubMed: Zampaglione 2020 - ? - - - - - - - 1 LOVD
+?/. - c.173C>G r.(?) p.(Thr58Arg) Unknown - likely pathogenic g.129247749C>G g.129528906C>G RHO c.173C>G, p.Thr58Arg - RHO_000130 heterozygous PubMed: Zampaglione 2020 - - Unknown ? - - - - DNA SEQ-NG-I, SEQ blood - retinal disease 226-1064 PubMed: Zampaglione 2020 - ? - - - - - - - 1 LOVD
+?/. - c.173C>G r.(?) p.(Thr58Arg) Unknown - likely pathogenic g.129247749C>G g.129528906C>G RHO c.173C>G, p.Thr58Arg - RHO_000130 frequent in gnomAD; we have seen this variant has het in patients with a different cause of disease, heterozygous PubMed: Zampaglione 2020 - - Unknown ? - - - - DNA SEQ-NG-I, SEQ blood - retinal disease OGI668_001345 PubMed: Zampaglione 2020 - ? - - - - - - - 1 LOVD
+?/. - c.173C>G r.(?) p.(Thr58Arg) Both (homozygous) ACMG likely pathogenic g.129247749C>G g.129528906C>G RHO c.173C>G, p.(Thr58Arg) - RHO_000130 homozygous PubMed: Dineiro 2020 - - Germline ? - - - - DNA SEQ-NG-I, SEQ blood, saliva targeted sequencing with 1 of 4 panels of OFTALMOgenics probes retinal disease OFTALMO.012 PubMed: Dineiro 2020 - ? - Spain - - - - - 1 LOVD
+?/. - c.173C>G r.(?) p.(Thr58Arg) Parent #1 - likely pathogenic g.129247749C>G g.129528906C>G RHO, variant 1: c.173C>G/p.T58R - RHO_000130 solved, heterozygous PubMed: Weisschuh 2020 - - Unknown ? - - - - DNA SEQ-NG blood RET1 targeted sequencing panel - see paper retinal disease 773 PubMed: Weisschuh 2020 Filing key number: 299, autosomal dominant retinitis pigmentosa, no patient Ids, consecutive numbers given F - Germany - - - - - 1 LOVD
+?/. - c.173C>G r.(?) p.(Thr58Arg) Unknown - likely pathogenic g.129247749C>G g.129528906C>G RHO c.467C>G, p.Thr58Arg - RHO_000130 error in annotation, p.Thr58Arg is caused by c.173C>G and not c.467C>G PubMed: Georgiou 2021 - - Unknown ? - - - - DNA SEQ-NG blood retrospective study retinal disease P24 PubMed: Georgiou 2021 pedigree ID: 3492, genetic ID: 10471 F - (United Kingdom (Great Britain)) - - - - - 1 LOVD
+/. - c.173C>G r.(?) p.(Thr58Arg) Unknown - pathogenic (dominant) g.129247749C>G g.129528906C>G RHO C-to-G transverion in the second nucleotide of codon 58 - Thr/Arg - RHO_000130 heterozygous PubMed: Dryja 1990 - rs28933394 Germline yes - - - - DNA SEQ - - retinal disease C_Patient 3 PubMed: Dryja 1990 proband M - United States - - - - - 1 LOVD
+/. - c.173C>G r.(?) p.(Thr58Arg) Unknown - pathogenic (dominant) g.129247749C>G g.129528906C>G RHO C-to-G transverion in the second nucleotide of codon 58 - Thr/Arg - RHO_000130 heterozygous PubMed: Dryja 1990 - rs28933394 Germline yes - - - - DNA RFLP - - retinal disease C_II:2 PubMed: Dryja 1990 - M - United States - - - - - 1 LOVD
+/. - c.173C>G r.(?) p.(Thr58Arg) Unknown - pathogenic (dominant) g.129247749C>G g.129528906C>G RHO C-to-G transverion in the second nucleotide of codon 58 - Thr/Arg - RHO_000130 heterozygous PubMed: Dryja 1990 - rs28933394 Germline yes - - - - DNA RFLP - - retinal disease C_II:6 PubMed: Dryja 1990 - M - United States - - - - - 1 LOVD
+/. - c.173C>G r.(?) p.(Thr58Arg) Unknown - pathogenic (dominant) g.129247749C>G g.129528906C>G RHO C-to-G transverion in the second nucleotide of codon 58 - Thr/Arg - RHO_000130 heterozygous PubMed: Dryja 1990 - rs28933394 Germline yes - - - - DNA RFLP - - retinal disease C_III:1 PubMed: Dryja 1990 - M - United States - - - - - 1 LOVD
+/. - c.173C>G r.(?) p.(Thr58Arg) Unknown - pathogenic (dominant) g.129247749C>G g.129528906C>G RHO C-to-G transverion in the second nucleotide of codon 58 - Thr/Arg - RHO_000130 heterozygous PubMed: Dryja 1990 - rs28933394 Germline yes - - - - DNA RFLP - - retinal disease C_III:2 PubMed: Dryja 1990 - F - United States - - - - - 1 LOVD
+/. - c.173C>G r.(?) p.(Thr58Arg) Unknown - pathogenic (dominant) g.129247749C>G g.129528906C>G RHO C-to-G transverion in the second nucleotide of codon 58 - Thr/Arg - RHO_000130 heterozygous PubMed: Dryja 1990 - rs28933394 Germline yes - - - - DNA RFLP - - retinal disease C_III:4 PubMed: Dryja 1990 - M - United States - - - - - 1 LOVD
+?/. - c.173C>G r.(?) p.(Thr58Arg) Unknown - likely pathogenic (dominant) g.129247749C>G g.129528906C>G RHO C467G, T58R - RHO_000130 heterozygous PubMed: Sung 1991 - - Germline yes - - - - DNA DGGE, ASO - - retinal disease D_1 PubMed: Sung 1991 Family D F - United States - - - - - 1 LOVD
+?/. - c.173C>G r.(?) p.(Thr58Arg) Maternal (confirmed) - likely pathogenic (dominant) g.129247749C>G g.129528906C>G RHO C467G, T58R - RHO_000130 heterozygous PubMed: Sung 1991 - - Germline yes - - - - DNA DGGE, ASO - - retinal disease D_2 PubMed: Sung 1991 Family D M - United States - - - - - 1 LOVD
+?/. - c.173C>G r.(?) p.(Thr58Arg) Maternal (confirmed) - likely pathogenic (dominant) g.129247749C>G g.129528906C>G RHO C467G, T58R - RHO_000130 heterozygous PubMed: Sung 1991 - - Germline yes - - - - DNA DGGE, ASO - - retinal disease D_6 PubMed: Sung 1991 Family D M - United States - - - - - 1 LOVD
+?/. - c.173C>G r.(?) p.(Thr58Arg) Paternal (confirmed) - likely pathogenic (dominant) g.129247749C>G g.129528906C>G RHO C467G, T58R - RHO_000130 heterozygous PubMed: Sung 1991 - - Germline yes - - - - DNA DGGE, ASO - - retinal disease D_9 PubMed: Sung 1991 Family D M - United States - - - - - 1 LOVD
+?/. - c.173C>G r.(?) p.(Thr58Arg) Paternal (confirmed) - likely pathogenic (dominant) g.129247749C>G g.129528906C>G RHO C467G, T58R - RHO_000130 heterozygous PubMed: Sung 1991 - - Germline yes - - - - DNA DGGE, ASO - - retinal disease D_10 PubMed: Sung 1991 Family D F - United States - - - - - 1 LOVD
+?/. - c.173C>G r.(?) p.(Thr58Arg) Paternal (confirmed) - likely pathogenic (dominant) g.129247749C>G g.129528906C>G RHO C467G, T58R - RHO_000130 heterozygous PubMed: Sung 1991 - - Germline yes - - - - DNA DGGE, ASO - - retinal disease D_11 PubMed: Sung 1991 Family D F - United States - - - - - 1 LOVD
+/. - c.173C>G r.(?) p.(Thr58Arg) Unknown - pathogenic (dominant) g.129247749C>G g.129528906C>G RHO codon: 58, sequence: ACG-AGG, protein: Thr-Arg - RHO_000130 heterozygous PubMed: Inglehearn 1992 - - Germline yes - - - - DNA SEQ blood - retinal disease ADRP 36 PubMed: Inglehearn 1992 data for the whole family, no single individuals described ? - United Kingdom (Great Britain) English - - - - 1 LOVD
+/. - c.173C>G r.(?) p.(Thr58Arg) Unknown - pathogenic (dominant) g.129247749C>G g.129528906C>G RHO codon: 58, sequence: ACG-AGG, protein: Thr-Arg - RHO_000130 heterozygous PubMed: Inglehearn 1992 - - Germline yes - - - - DNA SEQ blood - retinal disease ADRP 48 PubMed: Inglehearn 1992 data for the whole family, no single individuals described ? - United Kingdom (Great Britain) English - - - - 1 LOVD
+?/. - c.173C>G r.(?) p.(Thr58Arg) Unknown - likely pathogenic (dominant) g.129247749C>G g.129528906C>G RHO T58R - RHO_000130 heterozygous PubMed: Aleman 2008 - - Germline yes - - - - DNA SEQ blood - retinal disease 8_P1 PubMed: Aleman 2008 - M - United States - - - - - 1 LOVD
+?/. - c.173C>G r.(?) p.(Thr58Arg) Unknown - likely pathogenic (dominant) g.129247749C>G g.129528906C>G RHO T58R - RHO_000130 heterozygous PubMed: Aleman 2008 - - Germline yes - - - - DNA SEQ blood - retinal disease 9_P1 PubMed: Aleman 2008 - F - United States - - - - - 1 LOVD
+?/. - c.173C>G r.(?) p.(Thr58Arg) Unknown - likely pathogenic (dominant) g.129247749C>G g.129528906C>G RHO T58R - RHO_000130 heterozygous PubMed: Aleman 2008 - - Germline yes - - - - DNA SEQ blood - retinal disease 9_P2 PubMed: Aleman 2008 - F - United States - - - - - 1 LOVD
+?/. - c.173C>G r.(?) p.(Thr58Arg) Unknown - likely pathogenic (dominant) g.129247749C>G g.129528906C>G RHO T58R - RHO_000130 heterozygous PubMed: Aleman 2008 - - Germline yes - - - - DNA SEQ blood - retinal disease 9_P3 PubMed: Aleman 2008 - F - United States - - - - - 1 LOVD
+?/. - c.173C>G r.(?) p.(Thr58Arg) Unknown - likely pathogenic (dominant) g.129247749C>G g.129528906C>G RHO T58R - RHO_000130 heterozygous PubMed: Aleman 2008 - - Germline yes - - - - DNA SEQ blood - retinal disease 9_P4 PubMed: Aleman 2008 - M - United States - - - - - 1 LOVD
+?/. - c.173C>G r.(?) p.(Thr58Arg) Paternal (inferred) - likely pathogenic (dominant) g.129247749C>G g.129528906C>G RHO c.173 C>G, p.Thr58Arg - RHO_000130 heterozygous PubMed: Ruppert 2020 - - Germline yes - - - - DNA ? - - retinal disease Case 1 PubMed: Ruppert 2020 mother - - Slovenia - - - - - 1 LOVD
+?/. - c.173C>G r.(?) p.(Thr58Arg) Maternal (confirmed) - likely pathogenic (dominant) g.129247749C>G g.129528906C>G RHO c.173 C>G, p.Thr58Arg - RHO_000130 heterozygous PubMed: Ruppert 2020 - - Germline yes - - - - DNA ? - - retinal disease Case 2 PubMed: Ruppert 2020 offspring - - Slovenia - - - - - 1 LOVD
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