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.

38 entries on 1 page. Showing entries 1 - 38.
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.44A>G r.(?) p.(Asn15Ser) Unknown - pathogenic g.129247620A>G g.129528777A>G RHO(NM_000539.3):c.44A>G (p.N15S) - RHO_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.44A>G r.(?) p.(Asn15Ser) Unknown - pathogenic g.129247620A>G g.129528777A>G RHO(NM_000539.3):c.44A>G (p.N15S) - RHO_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.44A>G r.(?) p.(Asn15Ser) Unknown - pathogenic g.129247620A>G g.129528777A>G RHO(NM_000539.3):c.44A>G (p.N15S) - RHO_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 1 c.44A>G r.(?) p.(Asn15Ser) Parent #1 ACMG pathogenic (dominant) g.129247620A>G g.129528777A>G - - RHO_000007 - PubMed: Van Cauwenbergh 2017 - - Germline - - - - - DNA SEQ - - retinal disease FAM_001 PubMed: Van Cauwenbergh 2017 - - - Belgium - - - - - 1 LOVD
+/. - c.44A>G r.(?) p.(Asn15Ser) Unknown - pathogenic (dominant) g.129247620A>G g.129528777A>G - - RHO_000007 - PubMed: Fernandez-San Jose 2015 - rs104893786 Germline - - - - - DNA SEQ-NG - 73-gene panel retinal disease RP0642 PubMed: Fernandez-San Jose 2015 family, 2 affected - - Spain - - - - - 2 LOVD
+/. 1 c.44A>G r.(?) p.(Asn15Ser) Unknown - pathogenic (dominant) g.129247620A>G g.129528777A>G - - RHO_000007 - PubMed: Fernandez 2014 - - Germline yes - - - - DNA arraySEQ - RP chip retinal disease RP‐1927 PubMed: Fernandez 2014 - - - Spain - - - - - 1 LOVD
+/. - c.44A>G r.(?) p.(Asn15Ser) Parent #1 - pathogenic g.129247620A>G g.129528777A>G - - RHO_000007 - PubMed: Oishi 2014 - - Germline - - - - - DNA SEQ-NG - 193-gene panel retinal disease K1841 PubMed: Oishi 2014 family - - Japan - - - - - 1 LOVD
+/. 1 c.44A>G r.(?) p.(Asn15Ser) Unknown - pathogenic g.129247620A>G - - - RHO_000007 - PubMed: Jin 2008 - - Unknown - - - - - DNA DHPLC blood - retinal disease - PubMed: Jin 2008 - - - Japan - - - - - 1 LOVD
+?/. 1 c.44A>G r.(?) p.(Asn15Ser) Unknown - likely pathogenic g.129247620A>G g.129528777A>G - - RHO_000007 - 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
+?/. 1 c.44A>G r.(?) p.(Asn15Ser) Unknown - likely pathogenic g.129247620A>G - c.44A>G - RHO_000007 - PubMed: Sullivan-2013 - - Unknown - - - - - DNA SEQ, PCR blood - retinal disease - PubMed: Sullivan-2013 - - no - - - - - - 1 LOVD
+?/. - c.44A>G r.(?) p.(Asn15Ser) Parent #1 - likely pathogenic g.129247620A>G g.129528777A>G RHO, variant 1: c.44A>G/p.N15S - RHO_000007 solved, heterozygous PubMed: Weisschuh 2020 - - Unknown ? - - - - DNA SEQ-NG blood RET7 targeted sequencing panel - see paper retinal disease 1178 PubMed: Weisschuh 2020 Filing key number: 866, sporadic retinitis pigmentosa, no patient Ids, consecutive numbers given F - Germany - - - - - 1 LOVD
+/. - c.44A>G r.(?) p.(Asn15Ser) Maternal (inferred) - likely pathogenic (dominant) g.129247620A>G g.129528777A>G RHO codon: 15, sequence: AAT-AGT, protein: Asn-Ser - RHO_000007 heterozygous PubMed: Sullivan 1993 - - Germline yes - - - - DNA CMC, SEQ blood - retinal disease III-3 PubMed: Sullivan 1993 - F - Australia - - - - - 1 LOVD
+/. - c.44A>G r.(?) p.(Asn15Ser) Maternal (inferred) - likely pathogenic (dominant) g.129247620A>G g.129528777A>G RHO codon: 15, sequence: AAT-AGT, protein: Asn-Ser - RHO_000007 heterozygous PubMed: Sullivan 1993 - - Germline yes - - - - DNA CMC, SEQ blood - retinal disease IV-2 PubMed: Sullivan 1993 - F - Australia - - - - - 1 LOVD
+/. - c.44A>G r.(?) p.(Asn15Ser) Maternal (confirmed) - likely pathogenic (dominant) g.129247620A>G g.129528777A>G RHO codon: 15, sequence: AAT-AGT, protein: Asn-Ser - RHO_000007 heterozygous PubMed: Sullivan 1993 - - Germline yes - - - - DNA CMC, SEQ blood - retinal disease IV-4 PubMed: Sullivan 1993 - M - Australia - - - - - 1 LOVD
+?/. 1 c.44A>G r.(?) p.(Asn15Ser) Maternal (inferred) - likely pathogenic (dominant) g.129247620A>G g.129528777A>G RHO codon: 15, sequence: AAT-AGT, protein: Asn-Ser - RHO_000007 heterozygous PubMed: Kranich_1993 - - Germline yes - - - - DNA SSCA, SEQ blood - retinal disease II-3 PubMed: Kranich_1993 - F - Australia - - - - - 1 LOVD
+?/. 1 c.44A>G r.(?) p.(Asn15Ser) Maternal (inferred) - likely pathogenic (dominant) g.129247620A>G g.129528777A>G RHO codon: 15, sequence: AAT-AGT, protein: Asn-Ser - RHO_000007 heterozygous PubMed: Kranich_1993 - - Germline yes - - - - DNA SSCA, SEQ blood - retinal disease II-5 PubMed: Kranich_1993 - F - Australia - - - - - 1 LOVD
+?/. 1 c.44A>G r.(?) p.(Asn15Ser) Maternal (inferred) - likely pathogenic (dominant) g.129247620A>G g.129528777A>G RHO codon: 15, sequence: AAT-AGT, protein: Asn-Ser - RHO_000007 heterozygous PubMed: Kranich_1993 - - Germline yes - - - - DNA SSCA, SEQ blood - retinal disease II-7 PubMed: Kranich_1993 - F - Australia - - - - - 1 LOVD
+?/. 1 c.44A>G r.(?) p.(Asn15Ser) Paternal (inferred) - likely pathogenic (dominant) g.129247620A>G g.129528777A>G RHO codon: 15, sequence: AAT-AGT, protein: Asn-Ser - RHO_000007 heterozygous PubMed: Kranich_1993 - - Germline yes - - - - DNA SSCA, SEQ blood - retinal disease II-9 PubMed: Kranich_1993 - F - Australia - - - - - 1 LOVD
+?/. 1 c.44A>G r.(?) p.(Asn15Ser) Paternal (inferred) - likely pathogenic (dominant) g.129247620A>G g.129528777A>G RHO codon: 15, sequence: AAT-AGT, protein: Asn-Ser - RHO_000007 heterozygous PubMed: Kranich_1993 - - Germline yes - - - - DNA SSCA, SEQ blood - retinal disease II-12 PubMed: Kranich_1993 - M - Australia - - - - - 1 LOVD
+?/. 1 c.44A>G r.(?) p.(Asn15Ser) Maternal (confirmed) - likely pathogenic (dominant) g.129247620A>G g.129528777A>G RHO codon: 15, sequence: AAT-AGT, protein: Asn-Ser - RHO_000007 heterozygous PubMed: Kranich_1993 - - Germline yes - - - - DNA SSCA, SEQ blood - retinal disease III-3 PubMed: Kranich_1993 - F - Australia - - - - - 1 LOVD
+?/. 1 c.44A>G r.(?) p.(Asn15Ser) Maternal (confirmed) - likely pathogenic (dominant) g.129247620A>G g.129528777A>G RHO codon: 15, sequence: AAT-AGT, protein: Asn-Ser - RHO_000007 heterozygous PubMed: Kranich_1993 - - Germline yes - - - - DNA SSCA, SEQ blood - retinal disease III-5 PubMed: Kranich_1993 - M - Australia - - - - - 1 LOVD
+?/. 1 c.44A>G r.(?) p.(Asn15Ser) Maternal (confirmed) - likely pathogenic (dominant) g.129247620A>G g.129528777A>G RHO codon: 15, sequence: AAT-AGT, protein: Asn-Ser - RHO_000007 heterozygous PubMed: Kranich_1993 - - Germline yes - - - - DNA SSCA, SEQ blood - retinal disease III-12 PubMed: Kranich_1993 - F - Australia - - - - - 1 LOVD
+?/. 1 c.44A>G r.(?) p.(Asn15Ser) Maternal (confirmed) - likely pathogenic (dominant) g.129247620A>G g.129528777A>G RHO codon: 15, sequence: AAT-AGT, protein: Asn-Ser - RHO_000007 heterozygous PubMed: Kranich_1993 - - Germline yes - - - - DNA SSCA, SEQ blood - retinal disease III-13 PubMed: Kranich_1993 - M - Australia - - - - - 1 LOVD
+?/. 1 c.44A>G r.(?) p.(Asn15Ser) Maternal (confirmed) - likely pathogenic (dominant) g.129247620A>G g.129528777A>G RHO codon: 15, sequence: AAT-AGT, protein: Asn-Ser - RHO_000007 heterozygous PubMed: Kranich_1993 - - Germline yes - - - - DNA SSCA, SEQ blood - retinal disease VI-3 PubMed: Kranich_1993 - F - Australia - - - - - 1 LOVD
+?/. 1 c.44A>G r.(?) p.(Asn15Ser) Maternal (confirmed) - likely pathogenic (dominant) g.129247620A>G g.129528777A>G RHO codon: 15, sequence: AAT-AGT, protein: Asn-Ser - RHO_000007 heterozygous PubMed: Kranich_1993 - - Germline yes - - - - DNA SSCA, SEQ blood - retinal disease VI-6 PubMed: Kranich_1993 - M - Australia - - - - - 1 LOVD
+?/. 1 c.44A>G r.(?) p.(Asn15Ser) Paternal (confirmed) - likely pathogenic (dominant) g.129247620A>G g.129528777A>G RHO codon: 15, sequence: AAT-AGT, protein: Asn-Ser - RHO_000007 heterozygous PubMed: Kranich_1993 - - Germline yes - - - - DNA SSCA, SEQ blood - retinal disease VI-8 PubMed: Kranich_1993 - F - Australia - - - - - 1 LOVD
+?/. 1 c.44A>G r.(?) p.(Asn15Ser) Paternal (confirmed) - likely pathogenic (dominant) g.129247620A>G g.129528777A>G RHO codon: 15, sequence: AAT-AGT, protein: Asn-Ser - RHO_000007 heterozygous PubMed: Kranich_1993 - - Germline yes - - - - DNA SSCA, SEQ blood - retinal disease VI-9 PubMed: Kranich_1993 - M - Australia - - - - - 1 LOVD
+?/. 1 c.44A>G r.(?) p.(Asn15Ser) Paternal (confirmed) - likely pathogenic (dominant) g.129247620A>G g.129528777A>G RHO codon: 15, sequence: AAT-AGT, protein: Asn-Ser - RHO_000007 heterozygous PubMed: Kranich_1993 - - Germline yes - - - - DNA SSCA, SEQ blood - retinal disease VI-11 PubMed: Kranich_1993 - M - Australia - - - - - 1 LOVD
+?/. - c.44A>G r.(?) p.(Asn15Ser) Maternal (confirmed) - likely pathogenic (dominant) g.129247620A>G g.129528777A>G RHO c.44A>G, p.Asn15Ser - RHO_000007 heterozygous PubMed: Audo 2010 - - Germline yes - - - - DNA SEQ blood - retinal disease 2752 III.3 PubMed: Audo 2010 Family PB41, proband's granddaughter (error in annotation, III:12 in the table and III:3 in the pedigree) F - France French - - - - 1 LOVD
+?/. - c.44A>G r.(?) p.(Asn15Ser) Unknown - likely pathogenic (dominant) g.129247620A>G g.129528777A>G RHO c.44A>G, p.Asn15Ser - RHO_000007 heterozygous PubMed: Audo 2010 - - Germline yes - - - - DNA SEQ blood - retinal disease 2810 I.1 PubMed: Audo 2010 Family PB41, proband F - France French - - - - 1 LOVD
+?/. - c.44A>G r.(?) p.(Asn15Ser) Paternal (confirmed) - likely pathogenic (dominant) g.129247620A>G g.129528777A>G RHO c.44A>G, p.Asn15Ser - RHO_000007 heterozygous PubMed: Audo 2010 - - Germline yes - - - - DNA SEQ blood - retinal disease 2808 II.2 PubMed: Audo 2010 Family PB41, proband's daughter F - France French - - - - 1 LOVD
+?/. - c.44A>G r.(?) p.(Asn15Ser) Maternal (confirmed) - likely pathogenic (dominant) g.129247620A>G g.129528777A>G RHO c.44A>G, p.Asn15Ser - RHO_000007 heterozygous PubMed: Audo 2010 - - Germline yes - - - - DNA SEQ blood - retinal disease 2799 III.1 PubMed: Audo 2010 Family PB41, proband's grandson F - France French - - - - 1 LOVD
+?/. - c.44A>G r.(?) p.(Asn15Ser) Unknown - likely pathogenic (dominant) g.129247620A>G g.129528777A>G RHO c.44A>G, p.Asn15Ser - RHO_000007 heterozygous PubMed: Audo 2010 - - Germline yes - - - - DNA SEQ blood - retinal disease 2923 I.2 PubMed: Audo 2010 Family PB42, proband F - France French - - - - 1 LOVD
+?/. - c.44A>G r.(?) p.(Asn15Ser) Maternal (confirmed) - likely pathogenic (dominant) g.129247620A>G g.129528777A>G RHO c.44A>G, p.Asn15Ser - RHO_000007 heterozygous PubMed: Audo 2010 - - Germline yes - - - - DNA SEQ blood - retinal disease 2929 II.4 PubMed: Audo 2010 Family PB42, proband's daughter 3 F - France French - - - - 1 LOVD
+?/. - c.44A>G r.(?) p.(Asn15Ser) Paternal (confirmed) - likely pathogenic (dominant) g.129247620A>G g.129528777A>G RHO c.44A>G, p.Asn15Ser - RHO_000007 heterozygous PubMed: Audo 2010 - - Germline yes - - - - DNA SEQ blood - retinal disease 2927 II.8 PubMed: Audo 2010 Family PB42, proband's son M - France French - - - - 1 LOVD
+?/. - c.44A>G r.(?) p.(Asn15Ser) Maternal (confirmed) - likely pathogenic (dominant) g.129247620A>G g.129528777A>G RHO c.44A>G, p.Asn15Ser - RHO_000007 heterozygous PubMed: Audo 2010 - - Germline yes - - - - DNA SEQ blood - retinal disease 2938 III.12 PubMed: Audo 2010 Family PB42, proband's grandson (son of II.8) M - France French - - - - 1 LOVD
+/. 1 c.44A>G r.(?) p.(Asn15Ser) Unknown - pathogenic g.129247620A>G - c.44A>G - RHO_000007 - PubMed: Panneman 2023 - - Unknown - - - - - DNA SEQ - RP-LCA smMIPs sequencing RP - PubMed: Panneman 2023 - F - - - - - - - 1 Daan Panneman
+/. - c.44A>G r.(?) p.(Asn15Ser) Parent #1 - pathogenic g.129247620A>G g.129528777A>G - - RHO_000007 - PubMed: Midgley 2024 - rs104893786 Germline - - - - - DNA SEQ-NG - gene panel retinal disease Pat44 PubMed: Midgley 2024 - M - South Africa Africa-indigenous - - - - 1 Johan den Dunnen
Legend   How to query  


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