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.

39 entries on 1 page. Showing entries 1 - 39.
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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     

Treatment     

Panel size     

Owner     
+/. - c.541G>A r.(?) p.(Glu181Lys) Unknown - pathogenic g.129251104G>A g.129532261G>A RHO(NM_000539.3):c.541G>A (p.E181K) - RHO_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.541G>A r.(?) p.(Glu181Lys) Unknown - pathogenic g.129251104G>A g.129532261G>A - - RHO_000030 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 - - 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.541G>A r.(?) p.(Glu181Lys) Unknown ACMG likely pathogenic g.129251104G>A - - - RHO_000030 - PubMed: Sharon 2019 - - Germline - 1/2420 IRD families - - - DNA SEQ - - retinal disease - PubMed: Sharon 2019 1 IRD family - - Israel - - - - - 1 Global Variome, with Curator vacancy
+/. 3 c.541G>A r.(?) p.(Glu181Lys) Parent #1 - pathogenic (dominant) g.129251104G>A - - - RHO_000030 - PubMed: Sohocki 2001 - - Germline - - - - - DNA SSCA, SEQ - - retinal disease - PubMed: Sohocki 2001 - - - - - - - - - 1 Julia Lopez
+/. 3 c.541G>A r.(?) p.(Glu181Lys) Parent #1 - pathogenic (dominant) g.129251104G>A - - - RHO_000030 - PubMed: Sohocki 2001 - - Germline - - - - - DNA SSCA, SEQ - - retinal disease - PubMed: Sohocki 2001 - - - - - - - - - 1 Julia Lopez
+/. - c.541G>A r.(?) p.(Glu181Lys) Unknown - pathogenic (dominant) g.129251104G>A - 3:129251104G>A ENST00000296271.3:c.541G>A (Glu181Lys) - RHO_000030 - PubMed: Carss 2017 - - Germline - - - - - DNA SEQ-NG - WES and WGS retinal disease G005167 PubMed: Carss 2017 - M - United Kingdom (Great Britain) Europe - - - - 1 LOVD
+/. - c.541G>A r.(?) p.(Glu181Lys) Parent #1 - pathogenic (dominant) g.129251104G>A g.129532261G>A - - RHO_000030 - PubMed: Avela 2018 - - Germline - - - - - DNA SEQ-NG - - retinal disease Pat24 PubMed: Avela 2018 - - - Finland - - - - - 1 LOVD
+/. - c.541G>A r.(?) p.(Glu181Lys) Unknown - pathogenic g.129251104G>A g.129532261G>A - - RHO_000030 - PubMed: Haer-Wigman 2017 - - Germline - - - - - DNA SEQ-NG - gene panel ? 5932 PubMed: Haer-Wigman 2017 family - no Netherlands - - - - - 1 LOVD
+/. 3 c.541G>A r.(?) p.(Glu181Lys) Parent #1 - pathogenic g.129251104G>A - 541G>A - RHO_000030 - PubMed: Sullivan 2006 - - Germline yes - - - - DNA SEQ - - retinal disease - PubMed: Sullivan 2006 1 family - - United States - - - - - 1 Julia Lopez
+/. - c.541G>A r.(?) p.(Glu181Lys) Parent #1 - pathogenic g.129251104G>A g.129532261G>A - - RHO_000030 - PubMed: Carrigan 2016 - - Germline - - - - - DNA SEQ-NG - gene panel retinal disease - PubMed: Carrigan 2016 - - - Ireland - - - - - 1 LOVD
+?/. - c.541G>A r.(?) p.(Glu181Lys) Unknown - likely pathogenic g.129251104G>A g.129532261G>A - - RHO_000030 - PubMed: Ellingford 2016 - - Germline - - - - - DNA SEQ - 105-gene panel retinal disease 12015561 PubMed: Ellingford 2016 familial segregation analysis requested - - - - - - - - 1 LOVD
+/. 3 c.541G>A r.(?) p.(Glu181Lys) Parent #1 - pathogenic (dominant) g.129251104G>A g.129532261G>A - - RHO_000030 not in 192 controls PubMed: Coussa 2015 - - Germline - 2/60 cases - - - DNA SEQ - gene panel retinal disease - PubMed: Coussa 2015 index patient - - Canada French-Canadian - - - - 1 LOVD
+/. 3 c.541G>A r.(?) p.(Glu181Lys) Parent #1 - pathogenic (dominant) g.129251104G>A g.129532261G>A - - RHO_000030 not in 192 controls PubMed: Coussa 2015 - - Germline - 2/60 cases - - - DNA SEQ - gene panel retinal disease - PubMed: Coussa 2015 index patient - - Canada French-Canadian - - - - 1 LOVD
+/. - c.541G>A r.(?) p.(Glu181Lys) Unknown - pathogenic (dominant) g.129251104G>A g.129532261G>A - - RHO_000030 - PubMed: Xu 2014 - - Germline - - - - - DNA SEQ-NG - gene panel retinal disease RP221 PubMed: Xu 2014 family F - China - - - - - 1 LOVD
+/. - c.541G>A r.(?) p.(Glu181Lys) Unknown - pathogenic (dominant) g.129251104G>A g.129532261G>A - - RHO_000030 - PubMed: Xu 2014 - - Germline - - - - - DNA SEQ-NG - gene panel retinal disease RP295 PubMed: Xu 2014 family M - China - - - - - 1 LOVD
+/. 3 c.541G>A r.(?) p.(Glu181Lys) Unknown - pathogenic (dominant) g.129251104G>A g.129532261G>A - - RHO_000030 - PubMed: Fernandez 2014 - - Germline yes - - - - DNA SEQ - - retinal disease RP‐1672 PubMed: Fernandez 2014 - - - Spain - - - - - 1 LOVD
+?/. 3 c.541G>A r.(?) p.(Glu181Lys) Unknown - likely pathogenic g.129251104G>A g.129532261G>A - - RHO_000030 - 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
+?/. 3 c.541G>A r.(?) p.(Glu181Lys) Unknown - likely pathogenic g.129251104G>A g.129532261G>A - - RHO_000030 - 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
+/. 3 c.541G>A r.(?) p.(Glu181Lys) Unknown - pathogenic g.129251104G>A - p.Glu181Lys - RHO_000030 - PubMed: Blanco-Kelly-2012 - - Unknown yes - - - - DNA SEQ blood adRP genotyping microarray retinal disease - PubMed: Blanco-Kelly-2012 - - - Spain spanish - - - - 1 LOVD
-?/. - c.541G>A r.(?) p.(Glu181Lys) Unknown ACMG VUS g.129251104G>A - - - RHO_000030 - - - - Germline/De novo (untested) - - - - - DNA SEQ-NG-I - - RP IR_GS_0158 - - M - Korea, South (Republic) - - - - - 1 Jinu Han
+?/. - c.541G>A r.(?) p.(Glu181Lys) Unknown ACMG VUS g.129251104G>A - - - RHO_000030 - - - - Germline/De novo (untested) - - - - - DNA SEQ-NG-I - - RP IR_GJ_0159 - - F - Korea, South (Republic) - - - - - 1 Jinu Han
+/. 3 c.541G>A r.(?) p.(Glu181Lys) Unknown - pathogenic g.129251104G>A - Glu181Lys - RHO_000030 - PubMed: Bunge_1993 - - Unknown - - - - - DNA PCR, SSCA blood - retinal disease - PubMed: Bunge_1993 - - - - - - - - - 1 LOVD
+/. 3 c.541G>A r.(?) p.(Glu181Lys) Unknown - pathogenic g.129251104G>A - c.541G>A - RHO_000030 - PubMed: Eisenberger-2013 - - Germline - - - - - DNA SEQ-NG-I, SEQ-NG-R, SEQ blood - retinal disease - PubMed: Eisenberger-2013 - F no Germany - - - - - 1 LOVD
+?/. 3 c.541G>A r.(?) p.(Glu181Lys) Unknown - likely pathogenic g.129251104G>A - c.541G>A - RHO_000030 - PubMed: Sullivan-2013 - - Unknown - - - - - DNA SEQ, PCR blood - retinal disease - PubMed: Sullivan-2013 - - no - - - - - - 1 LOVD
+/. 3 c.541G>A r.(?) p.(Glu181Lys) Unknown ACMG pathogenic g.129251104G>A g.129532261G>A c.541G>A, p.Glu181Lys - RHO_000030 Heterozygous PubMed: Birtel 2018 - rs775557680 Germline ? - - - - DNA SEQ blood - retinal disease 55 PubMed: Birtel 2018 - F - Germany - - - - - 1 LOVD
+/. - c.541G>A r.(?) p.(Glu181Lys) Unknown ACMG pathogenic g.129251104G>A g.129532261G>A RHO c.541G>A, p.(Glu181Lys) - RHO_000030 - PubMed: Jespersgaar 2019 - - Germline ? - - - - DNA SEQ-NG-I blood 125 genes associated with inherited retinal disorders, see paper supplemental data retinal disease 209 PubMed: Jespersgaar 2019 - ? - Denmark - - - - - 1 LOVD
+?/. - c.541G>A r.(?) p.(Glu181Lys) Unknown - likely pathogenic g.129251104G>A g.129532261G>A RHO c.541G>A, p.E181K - RHO_000030 heterozygous PubMed: Jauregui 2020 - - Unknown ? - - - - DNA SEQ-NG blood targeted sequencing retinal disease 41 PubMed: Jauregui 2020 - F - (United States) white - - - - 1 LOVD
+?/. - c.541G>A r.(?) p.(?) Parent #1 - likely pathogenic g.129251104G>A g.129532261G>A RHO, variant 1: c.514G>A/p.E181K - RHO_000030 error in annotation, p.E181K is caused by c.541G>A and notc.514G>A, solved, heterozygous PubMed: Weisschuh 2020 - - Germline yes - - - - DNA SEQ-NG blood RET7 targeted sequencing panel - see paper retinal disease 497 PubMed: Weisschuh 2020 Filing key number: 164, autosomal dominant retinitis pigmentosa, no patient Ids, consecutive numbers given F - Germany - - - - - 1 LOVD
+?/. - c.541G>A r.(?) p.(?) Parent #1 - likely pathogenic g.129251104G>A g.129532261G>A RHO, variant 1: c.514G>A/p.E181K - RHO_000030 error in annotation, p.E181K is caused by c.541G>A and notc.514G>A, solved, heterozygous PubMed: Weisschuh 2020 - - Germline yes - - - - DNA SEQ blood Sanger sequencing retinal disease 498 PubMed: Weisschuh 2020 Filing key number: 164, autosomal dominant retinitis pigmentosa, no patient Ids, consecutive numbers given M - Germany - - - - - 1 LOVD
+?/. - c.541G>A r.(?) p.(Glu181Lys) Unknown - likely pathogenic g.129251104G>A g.129532261G>A RHO c.541G>A, p.Glu181Lys - RHO_000030 heterozygous PubMed: Turro 2020 - - Germline/De novo (untested) ? - - - - DNA SEQ-NG-I blood whole genome sequencing retinal disease G005167 PubMed: Turro 2020 only individuals with mutations in retinal disease genes from this publication were inserted into LOVD ? - (United Kingdom (Great Britain)) - - - - - 1 LOVD
+/. - c.541G>A r.(?) p.(Glu181Lys) Unknown - pathogenic g.129251104G>A - RHO(NM_000539.3):c.541G>A (p.E181K) - RHO_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.541G>A r.(?) p.(Glu181Lys) Maternal (confirmed) - likely pathogenic (dominant) g.129251104G>A g.129532261G>A RHO codon 181, sequence: GAG->AAG, amino acid change: Glu->-Lys - RHO_000030 heterozygous PubMed: Dryja 1991 - - Germline yes - - - - DNA SSCA - - retinal disease fam6078patII:1 PubMed: Dryja 1991 proband F - United States - - - - - 1 LOVD
+?/. - c.541G>A r.(?) p.(Glu181Lys) Unknown - likely pathogenic (dominant) g.129251104G>A g.129532261G>A RHO codon 181, sequence: GAG->AAG, amino acid change: Glu->-Lys - RHO_000030 heterozygous PubMed: Dryja 1991 - - Germline yes - - - - DNA SSCA - - retinal disease fam6078patI:2 PubMed: Dryja 1991 - F - United States - - - - - 1 LOVD
+?/. - c.541G>A r.(?) p.(Glu181Lys) Maternal (confirmed) - likely pathogenic (dominant) g.129251104G>A g.129532261G>A RHO codon 181, sequence: GAG->AAG, amino acid change: Glu->-Lys - RHO_000030 heterozygous PubMed: Dryja 1991 - - Germline yes - - - - DNA SSCA - - retinal disease fam6078patII:5 PubMed: Dryja 1991 - F - United States - - - - - 1 LOVD
+?/. - c.541G>A r.(?) p.(Glu181Lys) Paternal (inferred) - likely pathogenic (dominant) g.129251104G>A g.129532261G>A RHO codon: 181, sequence: GAG-AAG, protein: Glu-Lys - RHO_000030 heterozygous PubMed: Saga 1994 - - Unknown ? - - - - DNA RFLP, SEQ blood - retinal disease ? PubMed: Saga 1994 proband F - Japan - - - - - 1 LOVD
+?/. - c.541G>A r.(?) p.(Glu181Lys) Unknown - likely pathogenic (dominant) g.129251104G>A g.129532261G>A RHO Glu181Lys - RHO_000030 heterozygous; no nucleotide annotation, extrapolated from protein and databases PubMed: To 2004 - - Unknown ? - - - - DNA ARMS, RFLP blood - retinal disease ? PubMed: To 2004 no numbering in the original paper - - - - 76y - - - 1 LOVD
+/. 3 c.541G>A r.(?) p.(Glu181Lys) Unknown - pathogenic g.129251104G>A - c.541G>A - RHO_000030 - PubMed: Panneman 2023 - - Unknown - - - - - DNA SEQ - RP-LCA smMIPs sequencing RP - PubMed: Panneman 2023 - F - - - - - - - 1 Daan Panneman
+/. - c.541G>A r.(?) p.(Glu181Lys) Parent #1 - pathogenic g.129251104G>A g.129532261G>A - - RHO_000030 - PubMed: Midgley 2024 - rs775557680 Germline - - - - - DNA SEQ-NG - gene panel retinal disease Pat24 PubMed: Midgley 2024 - F - South Africa white - - - - 1 Johan den Dunnen
+/. - c.541G>A r.(?) p.(Glu181Lys) Parent #1 - pathogenic g.129251104G>A g.129532261G>A - - RHO_000030 - PubMed: Midgley 2024 - rs775557680 Germline - - - - - DNA SEQ-NG - gene panel retinal disease Pat49 PubMed: Midgley 2024 - M - South Africa Africa-indigenous - - - - 1 Johan den Dunnen
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