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.

139 entries on 2 pages. Showing entries 1 - 100.
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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     
+?/. 2 c.403C>T r.(?) p.(Arg135Trp) Parent #1 - likely pathogenic g.129249760C>T g.129530917C>T - - RHO_000001 predicted to affect function, but insufficient evidence for definite conclusion; potentially de novo PubMed: Neveling 2012 - - Germline - - - - - DNA SEQ, SEQ-NG-S - - retinal disease - - - F - - - - - - - 1 Kornelia Neveling
+/. - c.403C>T r.(?) p.(Arg135Trp) Unknown - pathogenic g.129249760C>T g.129530917C>T - - RHO_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.403C>T r.(?) p.(Arg135Trp) Unknown - pathogenic g.129249760C>T g.129530917C>T - - RHO_000001 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 - rs104893775 Germline - 2/1204 cases with retinitis pigmentosa - - - DNA SEQ-NG - - retinal disease - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 analysis 1204 retinitis pigmentosa cases - - Japan - - - - - 2 Yoshito Koyanagi
+?/. - c.403C>T r.(?) p.(Arg135Trp) Parent #1 - likely pathogenic g.129249760C>T g.129530917C>T - - RHO_000001 - PubMed: Holtan 2020 - - Germline - 1/899 cases - - - DNA SEQ - - retinal disease - PubMed: Holtan 2020 1 patient with variant in heterozygous or compound heterozygous form - - Norway - - - - - 1 Global Variome, with Curator vacancy
+/. - c.403C>T r.(?) p.(Arg135Trp) Unknown ACMG pathogenic g.129249760C>T - - - RHO_000001 - PubMed: Sharon 2019 - - Germline - 2/2420 IRD families - - - DNA SEQ - - retinal disease - PubMed: Sharon 2019 2 IRD families - - Israel - - - - - 2 Global Variome, with Curator vacancy
+?/. 2 c.403C>T r.(?) p.(Arg135Trp) Parent #1 - likely pathogenic g.129249760C>T - R135W - RHO_000001 - PubMed: Ziviello 2005 - - Germline - - - - - DNA DHPLC blood - retinal disease - PubMed: Ziviello 2005 - - - Italy - - - - - 4 Julia Lopez
+/. 2 c.403C>T r.(?) p.(Arg135Trp) Parent #1 - pathogenic (dominant) g.129249760C>T - - - RHO_000001 - PubMed: Sohocki 2001 - - Germline - - - - - DNA SSCA, SEQ - - retinal disease - PubMed: Sohocki 2001 - - - - - - - - - 1 Julia Lopez
+/. 2 c.403C>T r.(?) p.(Arg135Trp) Parent #1 - pathogenic (dominant) g.129249760C>T - - - RHO_000001 - PubMed: Sohocki 2001 - - Germline - - - - - DNA SSCA, SEQ - - retinal disease - PubMed: Sohocki 2001 - - - - - - - - - 1 Julia Lopez
+/. 2 c.403C>T r.(?) p.(Arg135Trp) Parent #1 - pathogenic (dominant) g.129249760C>T - - - RHO_000001 - PubMed: Sohocki 2001 - - Germline - - - - - DNA SSCA, SEQ - - retinal disease - PubMed: Sohocki 2001 - - - - - - - - - 1 Julia Lopez
+/. 2 c.403C>T r.(?) p.(Arg135Trp) Parent #1 - pathogenic (dominant) g.129249760C>T - - - RHO_000001 - PubMed: Sohocki 2001 - - Germline - - - - - DNA SSCA, SEQ - - retinal disease - PubMed: Sohocki 2001 - - - - - - - - - 1 Julia Lopez
+/. 2 c.403C>T r.(?) p.(Arg135Trp) Parent #1 - pathogenic (dominant) g.129249760C>T - - - RHO_000001 - PubMed: Sohocki 2001 - - Germline - - - - - DNA SSCA, SEQ - - retinal disease - PubMed: Sohocki 2001 - - - - - - - - - 1 Julia Lopez
+/. 2 c.403C>T r.(?) p.(Arg135Trp) Parent #1 - pathogenic (dominant) g.129249760C>T - - - RHO_000001 - PubMed: Sohocki 2001 - - Germline - - - - - DNA SSCA, SEQ - - retinal disease - PubMed: Sohocki 2001 - - - - - - - - - 1 Julia Lopez
+/. - c.403C>T r.(?) p.(Arg135Trp) Unknown - pathogenic g.129249760C>T g.129530917C>T - - RHO_000001 - PubMed: Maeda 2018 - rs104893775 De novo - - - - - DNA SEQ, SEQ-NG - 39-gene panel retinal disease Pat25 PubMed: Maeda 2018 patient, no family history F - Japan - - - - - 1 LOVD
+?/. - c.403C>T r.(?) p.(Arg135Trp) Unknown - likely pathogenic g.129249760C>T g.129530917C>T - - RHO_000001 - PubMed: Stone 2017 - - De novo - - - - - DNA SEQ-NG - - retinal disease 442 PubMed: Stone 2017 1 affected F - (United States) - - - - - 1 LOVD
+?/. - c.403C>T r.(?) p.(Arg135Trp) Unknown - likely pathogenic g.129249760C>T g.129530917C>T - - RHO_000001 - PubMed: Bravo-Gil 2017 - - De novo yes - - - - DNA SEQ-NG - 68-gene panel retinal disease Pat15 PubMed: Bravo-Gil 2017 family - - Spain - - - - - 1 Nereida Bravo Gil
+/. 2 c.403C>T r.(?) p.(Arg135Trp) Parent #1 ACMG pathogenic (dominant) g.129249760C>T g.129530917C>T - - RHO_000001 - PubMed: Van Cauwenbergh 2017 - - Germline yes - - - - DNA SEQ - - retinal disease FAM_003 PubMed: Van Cauwenbergh 2017 - - - Belgium - - - - - 1 LOVD
+/. 2 c.403C>T r.(?) p.(Arg135Trp) Parent #1 ACMG pathogenic (dominant) g.129249760C>T g.129530917C>T - - RHO_000001 - PubMed: Van Cauwenbergh 2017 - - Germline yes - - - - DNA SEQ - - retinal disease FAM_004 PubMed: Van Cauwenbergh 2017 - - - Belgium - - - - - 1 LOVD
+/. 2 c.403C>T r.(?) p.(Arg135Trp) Parent #1 - pathogenic g.129249760C>T - 403C>T - RHO_000001 - PubMed: Sullivan 2006 - - Germline yes - - - - DNA SEQ - - retinal disease - PubMed: Sullivan 2006 4 families - - United States - - - - - 8 Julia Lopez
+/. - c.403C>T r.(?) p.(Arg135Trp) Unknown - pathogenic g.129249760C>T - R135W - RHO_000001 one patient (FamBPatIV1) carries this variant but not the GUCY2D variant PubMed: Abdulridha-Aboud 2016 - - Germline - - - - - DNA arraySEQ, SEQ - - retinal disease FamBPatII1 PubMed: Abdulridha-Aboud 2016 4-generation family, 5 affected (4F, 1M) F - Sweden - - - - - 5 Johan den Dunnen
+/. - c.403C>T r.(?) p.(Arg135Trp) Unknown - pathogenic (dominant) g.129249760C>T g.129530917C>T - - RHO_000001 - PubMed: Xu 2014 - - Germline - - - - - DNA SEQ-NG - gene panel retinal disease RP314 PubMed: Xu 2014 family M - China - - - - - 1 LOVD
+/. 2 c.403C>T r.(?) p.(Arg135Trp) Unknown - pathogenic (dominant) g.129249760C>T g.129530917C>T - - RHO_000001 - PubMed: Fernandez 2014 - - Germline yes - - - - DNA DGGE, SEQ - - retinal disease RP‐0314 PubMed: Fernandez 2014 - - - Spain - - - - - 1 LOVD
+?/. - c.403C>T r.(?) p.(Arg135Trp) Parent #1 - likely pathogenic g.129249760C>T g.129530917C>T - - RHO_000001 - PubMed: Huang 2015 - - Germline yes - - - - DNA SEQ-NG - 284 gene panel retinal disease S11-1 PubMed: Huang 2015 - F - China - - - - - 1 LOVD
+?/. - c.403C>T r.(?) p.(Arg135Trp) Parent #1 - likely pathogenic g.129249760C>T g.129530917C>T - - RHO_000001 - PubMed: Huang 2015 - - Germline yes - - - - DNA SEQ-NG - 284 gene panel retinal disease W90-1 PubMed: Huang 2015 - F - China - - - - - 1 LOVD
+/. - c.403C>T r.(?) p.(Arg135Trp) Parent #1 - pathogenic g.129249760C>T g.129530917C>T - - RHO_000001 - PubMed: Oishi 2014 - - Germline - - - - - DNA SEQ-NG - 193-gene panel retinal disease K6348 PubMed: Oishi 2014 family - - Japan - - - - - 1 LOVD
+/. - c.403C>T r.(?) p.(Arg135Trp) Parent #1 - pathogenic g.129249760C>T g.129530917C>T - - RHO_000001 - PubMed: Oishi 2014 - - Germline - - - - - DNA SEQ-NG - 193-gene panel retinal disease K6556 PubMed: Oishi 2014 family - - Japan - - - - - 1 LOVD
+/. 2 c.403C>T r.(?) p.(Arg135Trp) Unknown - pathogenic g.129249760C>T - - - RHO_000001 - PubMed: Jin 2008 - - Unknown - - - - - DNA DHPLC blood - retinal disease - PubMed: Jin 2008 - - - Japan - - - - - 1 LOVD
+?/. 2 c.403C>T r.(?) p.(Arg135Trp) Unknown - likely pathogenic g.129249760C>T - Arg135Trp - RHO_000001 - PubMed: Matias-Florentino-2009 - - Germline - - - - - DNA SEQ - - retinal disease - PubMed: Matias-Florentino-2009 - - - Mexico Mexican - - - - 1 LOVD
+/. 2 c.403C>T r.(?) p.(Arg135Trp) Unknown ACMG pathogenic g.129249760C>T g.129530917C>T - - RHO_000001 - Tracewska 2021, MolVis in press - - De novo yes 0 (in-house database, ~5000 samples) - - - DNA SEQ-NG-I, SEQ blood targeted resequencing using MIPs library prep, 108-gene panel retinal disease 311 Tracewska 2021, MolVis in press proband F no Poland Slavic - - yes - 1 LOVD
+?/. 2 c.403C>T r.(?) p.(Arg135Trp) Unknown - likely pathogenic g.129249760C>T g.129530917C>T - - RHO_000001 - PubMed: Martin-Merida 2018 - - Germline ? 5/258 - - - 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
+?/. 2 c.403C>T r.(?) p.(Arg135Trp) Unknown - likely pathogenic g.129249760C>T g.129530917C>T - - RHO_000001 - PubMed: Martin-Merida 2018 - - Germline ? 5/258 - - - 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
+?/. 2 c.403C>T r.(?) p.(Arg135Trp) Unknown - likely pathogenic g.129249760C>T g.129530917C>T - - RHO_000001 - PubMed: Martin-Merida 2018 - - Germline ? 5/258 - - - 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
+?/. 2 c.403C>T r.(?) p.(Arg135Trp) Unknown - likely pathogenic g.129249760C>T g.129530917C>T - - RHO_000001 - PubMed: Martin-Merida 2018 - - Germline ? 5/258 - - - 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
+?/. 2 c.403C>T r.(?) p.(Arg135Trp) Unknown - likely pathogenic g.129249760C>T g.129530917C>T - - RHO_000001 - PubMed: Martin-Merida 2018 - - Germline ? 5/258 - - - 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
+/. 2 c.403C>T r.(?) p.(Arg135Trp) Unknown ACMG pathogenic g.129249760C>T g.129530917C>T NM_000539.3:c.403C>T, NP_000530.1:p.(Arg135Trp), NC_000003.11:g.129249760C>T - RHO_000001 - PubMed: Wang 2018 - - Germline ? - - - - DNA SEQ-NG - panel of 441 hereditary eye disease genes including 291 genes related to IRD retinal disease 2016090901 PubMed: Wang 2018 - F ? China Han Chinese - - - - 1 LOVD
+/. 2 c.403C>T r.(?) p.(Arg135Trp) Unknown - pathogenic (dominant) g.129249760C>T - c.403C>T - RHO_000001 - PubMed: Kim-2012 - - Germline yes 1/336 cases; 0/360 controls - - - DNA PCR blood - retinal disease - PubMed: Kim-2012 Mother of R0119:III-2 F - China - - - - - 1 LOVD
+/. 2 c.403C>T r.(?) p.(Arg135Trp) Maternal (confirmed) - pathogenic (dominant) g.129249760C>T - c.403C>T - RHO_000001 - PubMed: Kim-2012 - - Germline yes 1/336 cases; 0/360 controls - - - DNA PCR blood - retinal disease - PubMed: Kim-2012 - M - China - - - - - 1 LOVD
+?/. 2 c.403C>T r.(?) p.(Arg135Trp) Unknown - likely pathogenic g.129249760C>T - c.403C>T - RHO_000001 - PubMed: Sullivan-2013 - - Unknown - - - - - DNA SEQ, PCR blood - retinal disease - PubMed: Sullivan-2013 - - no - - - - - - 1 LOVD
+/. - c.403C>T r.(?) p.(Arg135Trp) Unknown ACMG pathogenic g.129249760C>T g.129530917C>T RHO c.403C>T, p.(Arg135Trp) - RHO_000001 - PubMed: Jespersgaar 2019 - - Germline ? - - - - DNA SEQ-NG-I blood 125 genes associated with inherited retinal disorders, see paper supplemental data retinal disease 214 PubMed: Jespersgaar 2019 - ? - Denmark - - - - - 1 LOVD
+/. - c.403C>T r.(?) p.(Arg135Trp) Unknown ACMG pathogenic g.129249760C>T g.129530917C>T RHO c.403C>T, p.(Arg135Trp) - RHO_000001 - PubMed: Jespersgaar 2019 - - Germline ? - - - - DNA SEQ-NG-I blood 125 genes associated with inherited retinal disorders, see paper supplemental data retinal disease 216 PubMed: Jespersgaar 2019 - ? - Denmark - - - - - 1 LOVD
+/. - c.403C>T r.(?) p.(Arg135Trp) Unknown - pathogenic g.129249760C>T g.129530917C>T RHO c.403C>T, p.Arg135Trp - RHO_000001 heterozygous PubMed: Zampaglione 2020 - - Unknown ? - - - - DNA SEQ-NG-I, SEQ blood - retinal disease 121-186 PubMed: Zampaglione 2020 - ? - - - - - - - 1 LOVD
+/. 2 c.403C>T r.(?) p.(Arg135Trp) Unknown ACMG pathogenic g.129249760C>T g.129530917C>T RHO c.403C > T, p.Arg135Trp, heterozygous - RHO_000001 - PubMed: Sun 2020 - - Unknown ? - - - - DNA SEQ-NG blood targeted NGS with molecular inversion probes: coding exons of 27 genes associated with Joubert syndrome retinal disease 4 PubMed: Sun 2020 - F - China - - - - - 1 LOVD
+/. 2 c.403C>T r.(?) p.(Arg135Trp) Unknown ACMG pathogenic g.129249760C>T g.129530917C>T RHO c.403C > T, p.Arg135Trp, heterozygous - RHO_000001 - PubMed: Sun 2020 - - Unknown ? - - - - DNA SEQ-NG blood targeted NGS with molecular inversion probes: coding exons of 27 genes associated with Joubert syndrome retinal disease 5 PubMed: Sun 2020 - F - China - - - - - 1 LOVD
+?/. - c.403C>T r.(?) p.(Arg135Trp) Parent #1 - likely pathogenic g.129249760C>T g.129530917C>T RHO, variant 1: c.403C>T/p.R135W - RHO_000001 solved, heterozygous PubMed: Weisschuh 2020 - - Unknown ? - - - - DNA SEQ-NG blood RET3 targeted sequencing panel - see paper retinal disease 91 PubMed: Weisschuh 2020 Filing key number: 44, sporadic retinitis pigmentosa, no patient Ids, consecutive numbers given F - Germany - - - - - 1 LOVD
?/. - c.403C>T r.(?) p.(Arg135Trp) Unknown - VUS g.129249760C>T g.129530917C>T RHO nucleotide 1, protein 1:c.403C>T, p.Arg135Trp nucleotide 2, protein 2:-, - RHO_000001 , ACMG unclassified - no access to supplementary table 2 PubMed: Hull 2020 - - Germline ? - - - - DNA ? blood NGS gene panel investigation in 60 families, Sanger sequencing in 27 families, and Asper microarray in 25 families retinal disease 84 PubMed: Hull 2020 - ? - New Zealand Middle Eastern - - - - 1 LOVD
+/. 2 c.403C>T r.(?) p.(Arg135Trp) Unknown ACMG pathogenic g.129249760C>T g.129530917C>T RHO c.403C>T, p.(R135W) - RHO_000001 - PubMed: Xiao-2021 - - Unknown yes - - - - DNA SEQ blood Sanger sequencing retinal disease 191073 PubMed: Xiao-2021 - M - China - - - - - 1 LOVD
+/. 2 c.403C>T r.(?) p.(Arg135Trp) Unknown ACMG pathogenic g.129249760C>T g.129530917C>T RHO c.403C>T, p.(R135W) - RHO_000001 - PubMed: Xiao-2021 - - Unknown yes - - - - DNA SEQ blood Sanger sequencing retinal disease 19422 PubMed: Xiao-2021 - M - China - - - - - 1 LOVD
+/. 2 c.403C>T r.(?) p.(Arg135Trp) Unknown ACMG pathogenic g.129249760C>T g.129530917C>T RHO c.403C>T, p.(R135W) - RHO_000001 - PubMed: Xiao-2021 - - Unknown yes - - - - DNA SEQ blood Sanger sequencing retinal disease 19609 PubMed: Xiao-2021 - F - China - - - - - 1 LOVD
+/. 2 c.403C>T r.(?) p.(Arg135Trp) Unknown ACMG pathogenic g.129249760C>T g.129530917C>T RHO c.403C>T, p.(R135W) - RHO_000001 - PubMed: Xiao-2021 - - Unknown yes - - - - DNA SEQ blood Sanger sequencing retinal disease 19655 PubMed: Xiao-2021 - M - China - - - - - 1 LOVD
+?/. 2 c.403C>T r.(?) p.(Arg135Trp) Unknown - likely pathogenic (dominant) g.129249760C>T - c.403C>T - RHO_000001 - PubMed: Liu-2020 - - Germline - - - - - DNA SEQ-NG - hereditary eye disease enrichment panel (HEDEP) retinal disease - PubMed: Liu-2020 - F - - - - - - - 1 LOVD
+?/. 2 c.403C>T r.(?) p.(Arg135Trp) Unknown - likely pathogenic (dominant) g.129249760C>T - c.403C>T - RHO_000001 - PubMed: Liu-2020 - - Germline - - - - - DNA SEQ-NG - hereditary eye disease enrichment panel (HEDEP) retinal disease - PubMed: Liu-2020 - M - - - - - - - 1 LOVD
+/. 2 c.403C>T r.(?) p.(Arg135Trp) Unknown - pathogenic (dominant) g.129249760C>T - c.403C>T - RHO_000001 - PubMed: Colombo-2020 - rs104893775 Germline - - - - - DNA SEQ - - retinal disease - PubMed: Colombo-2020 - F no - - - - - - 1 LOVD
+/. 2 c.403C>T r.(?) p.(Arg135Trp) Unknown - pathogenic (dominant) g.129249760C>T - c.403C>T - RHO_000001 - PubMed: Colombo-2020 - rs104893775 Germline yes - - - - DNA SEQ - - retinal disease - PubMed: Colombo-2020 - M no - - - - - - 1 LOVD
+/. - c.403C>T r.(?) p.(Arg135Trp) Unknown ACMG pathogenic g.129249760C>T g.129530917C>T RHO, gene that can display both dominant and recessive patterns of inheritance, c.403C>T, p.Arg135Trp, heterozygous - RHO_000001 - PubMed: Perea-Romero 2021 - - Germline yes - - - - DNA ? - whole exome sequencing retinal disease RP-0118 PubMed: Perea-Romero 2021 - - - Spain - - - - - 1 LOVD
+?/. - c.403C>T r.(?) p.(Arg135Trp) Paternal (inferred) - likely pathogenic (dominant) g.129249760C>T g.129530917C>T RHO C2480T, R135W - RHO_000001 heterozygous PubMed: Sung 1991 - - Germline yes - - - - DNA DGGE, ASO - - retinal disease I1_2 PubMed: Sung 1991 Family I1 M - United States - - - - - 1 LOVD
+?/. - c.403C>T r.(?) p.(Arg135Trp) Paternal (inferred) - likely pathogenic (dominant) g.129249760C>T g.129530917C>T RHO C2480T, R135W - RHO_000001 heterozygous PubMed: Sung 1991 - - Germline yes - - - - DNA DGGE, ASO - - retinal disease I1_4 PubMed: Sung 1991 Family I1 F - United States - - - - - 1 LOVD
+?/. - c.403C>T r.(?) p.(Arg135Trp) Paternal (confirmed) - likely pathogenic (dominant) g.129249760C>T g.129530917C>T RHO C2480T, R135W - RHO_000001 heterozygous PubMed: Sung 1991 - - Germline yes - - - - DNA DGGE, ASO - - retinal disease I1_6 PubMed: Sung 1991 Family I1 F - United States - - - - - 1 LOVD
+?/. - c.403C>T r.(?) p.(Arg135Trp) Paternal (inferred) - likely pathogenic (dominant) g.129249760C>T g.129530917C>T RHO C2480T, R135W - RHO_000001 heterozygous PubMed: Sung 1991 - - Germline yes - - - - DNA DGGE, ASO - - retinal disease I2_2 PubMed: Sung 1991 Family I2 F - United States - - - - - 1 LOVD
+?/. - c.403C>T r.(?) p.(Arg135Trp) Paternal (inferred) - likely pathogenic (dominant) g.129249760C>T g.129530917C>T RHO C2480T, R135W - RHO_000001 heterozygous PubMed: Sung 1991 - - Germline yes - - - - DNA DGGE, ASO - - retinal disease I2_4 PubMed: Sung 1991 Family I2 F - United States - - - - - 1 LOVD
+?/. - c.403C>T r.(?) p.(Arg135Trp) Paternal (inferred) - likely pathogenic (dominant) g.129249760C>T g.129530917C>T RHO C2480T, R135W - RHO_000001 heterozygous PubMed: Sung 1991 - - Germline yes - - - - DNA DGGE, ASO - - retinal disease I2_5 PubMed: Sung 1991 Family I2 M - United States - - - - - 1 LOVD
+?/. - c.403C>T r.(?) p.(Arg135Trp) Paternal (inferred) - likely pathogenic (dominant) g.129249760C>T g.129530917C>T RHO C2480T, R135W - RHO_000001 heterozygous PubMed: Sung 1991 - - Germline yes - - - - DNA DGGE, ASO - - retinal disease I2_6 PubMed: Sung 1991 Family I2 F - United States - - - - - 1 LOVD
+?/. - c.403C>T r.(?) p.(Arg135Trp) Paternal (inferred) - likely pathogenic (dominant) g.129249760C>T g.129530917C>T RHO C2480T, R135W - RHO_000001 heterozygous PubMed: Sung 1991 - - Germline yes - - - - DNA DGGE, ASO - - retinal disease I2_7 PubMed: Sung 1991 Family I2 F - United States - - - - - 1 LOVD
+?/. - c.403C>T r.(?) p.(Arg135Trp) Maternal (confirmed) - likely pathogenic (dominant) g.129249760C>T g.129530917C>T RHO C2480T, R135W - RHO_000001 heterozygous PubMed: Sung 1991 - - Germline yes - - - - DNA DGGE, ASO - - retinal disease I2_8 PubMed: Sung 1991 Family I2 M - United States - - - - - 1 LOVD
+?/. - c.403C>T r.(?) p.(Arg135Trp) Maternal (confirmed) - likely pathogenic (dominant) g.129249760C>T g.129530917C>T RHO C2480T, R135W - RHO_000001 heterozygous PubMed: Sung 1991 - - Germline yes - - - - DNA DGGE, ASO - - retinal disease I2_10 PubMed: Sung 1991 Family I2 M - United States - - - - - 1 LOVD
+?/. 2 c.403C>T r.(?) p.(Arg135Trp) Unknown - likely pathogenic (dominant) g.129249760C>T g.129530917C>T RHO codon: 135, sequence: CGG-TGG, protein: R135W - RHO_000001 heterozygous PubMed: Macke_1993 - - Unknown ? - - - - DNA SEQ blood - retinal disease ? PubMed: Macke_1993 - ? - United States - - - - - 1 LOVD
+?/. 2 c.403C>T r.(?) p.(Arg135Trp) Unknown - likely pathogenic (dominant) g.129249760C>T g.129530917C>T RHO codon: 135, sequence: CGG-TGG, protein: R135W - RHO_000001 heterozygous PubMed: Macke_1993 - - Unknown ? - - - - DNA SEQ blood - retinal disease ? PubMed: Macke_1993 - ? - United States - - - - - 1 LOVD
+?/. 2 c.403C>T r.(?) p.(Arg135Trp) Unknown - likely pathogenic (dominant) g.129249760C>T g.129530917C>T RHO codon: 135, sequence: CGG-TGG, protein: R135W - RHO_000001 heterozygous PubMed: Macke_1993 - - Unknown ? - - - - DNA SEQ blood - retinal disease ? PubMed: Macke_1993 - ? - United States - - - - - 1 LOVD
+?/. - c.403C>T r.(?) p.(Arg135Trp) Maternal (inferred) - likely pathogenic (dominant) g.129249760C>T g.129530917C>T RHO codon: 135, sequence: CGG-TGG, protein: Arg-Trp - RHO_000001 heterozygous PubMed: Bell 1994 - - Germline yes - - - - DNA SSCA, SEQ blood - retinal disease F-6246_III:1 PubMed: Bell 1994 proband M - United Kingdom (Great Britain) Scottish - - - - 1 LOVD
+?/. - c.403C>T r.(?) p.(Arg135Trp) Unknown - likely pathogenic (dominant) g.129249760C>T g.129530917C>T RHO codon: 135, sequence: CGG-TGG, protein: Arg-Trp - RHO_000001 heterozygous PubMed: Souied 1996 - - Germline yes - - - - DNA SSCA, SEQ blood - retinal disease I-2 PubMed: Souied 1996 - F - France - 79y - - - 1 LOVD
+?/. - c.403C>T r.(?) p.(Arg135Trp) Maternal (confirmed) - likely pathogenic (dominant) g.129249760C>T g.129530917C>T RHO codon: 135, sequence: CGG-TGG, protein: Arg-Trp - RHO_000001 heterozygous; additionally, APOE E3/E4 haplotype PubMed: Souied 1996 - - Germline yes - - - - DNA SSCA, SEQ blood - retinal disease II-3 PubMed: Souied 1996 - F yes France - - - - - 1 LOVD
+?/. - c.403C>T r.(?) p.(Arg135Trp) Maternal (confirmed) - likely pathogenic (dominant) g.129249760C>T g.129530917C>T RHO codon: 135, sequence: CGG-TGG, protein: Arg-Trp - RHO_000001 heterozygous; additionally, APOE E3/E3 haplotype PubMed: Souied 1996 - - Germline yes - - - - DNA SSCA, SEQ blood - retinal disease II-5 PubMed: Souied 1996 - M yes France - - - - - 1 LOVD
+?/. - c.403C>T r.(?) p.(Arg135Trp) Maternal (confirmed) - likely pathogenic (dominant) g.129249760C>T g.129530917C>T RHO codon: 135, sequence: CGG-TGG, protein: Arg-Trp - RHO_000001 heterozygous; additionally, APOE E3/E4 haplotype PubMed: Souied 1996 - - Germline yes - - - - DNA SSCA, SEQ blood - retinal disease III-2 PubMed: Souied 1996 - F - France - - - - - 1 LOVD
+?/. - c.403C>T r.(?) p.(Arg135Trp) Maternal (confirmed) - likely pathogenic (dominant) g.129249760C>T g.129530917C>T RHO codon: 135, sequence: CGG-TGG, protein: Arg-Trp - RHO_000001 heterozygous; additionally, APOE E3/E4 haplotype PubMed: Souied 1996 - - Germline yes - - - - DNA SSCA, SEQ blood - retinal disease III-3 PubMed: Souied 1996 - F - France - - - - - 1 LOVD
+?/. 2 c.403C>T r.(?) p.(Arg135Trp) Paternal (inferred) - likely pathogenic (dominant) g.129249760C>T g.129530917C>T RHO codon: 135, sequence: CGG-TGG, protein: Arg-Trp - RHO_000001 heterozygous; no nucleotide annotation, extrapolated from protein, sequence and databases PubMed: Pannarale 1996 - - Germline yes - - - - DNA RFLP, SSCA, SEQ blood - retinal disease III-1 PubMed: Pannarale 1996 proband's mother F - Italy Sicilian - - - - 1 LOVD
+?/. 2 c.403C>T r.(?) p.(Arg135Trp) Maternal (confirmed) - likely pathogenic (dominant) g.129249760C>T g.129530917C>T RHO codon: 135, sequence: CGG-TGG, protein: Arg-Trp - RHO_000001 heterozygous; no nucleotide annotation, extrapolated from protein, sequence and databases PubMed: Pannarale 1996 - - Germline yes - - - - DNA RFLP, SSCA, SEQ blood - retinal disease IV-3 PubMed: Pannarale 1996 proband M - Italy Sicilian - - - - 1 LOVD
+?/. 2 c.403C>T r.(?) p.(Arg135Trp) Maternal (confirmed) - likely pathogenic (dominant) g.129249760C>T g.129530917C>T RHO codon: 135, sequence: CGG-TGG, protein: Arg-Trp - RHO_000001 heterozygous; no nucleotide annotation, extrapolated from protein, sequence and databases PubMed: Pannarale 1996 - - Germline yes - - - - DNA RFLP, SSCA, SEQ blood - retinal disease IV-4 PubMed: Pannarale 1996 proband's brother 2 M - Italy Sicilian - - - - 1 LOVD
+?/. 2 c.403C>T r.(?) p.(Arg135Trp) Maternal (confirmed) - likely pathogenic (dominant) g.129249760C>T g.129530917C>T RHO codon: 135, sequence: CGG-TGG, protein: Arg-Trp - RHO_000001 heterozygous; no nucleotide annotation, extrapolated from protein, sequence and databases PubMed: Pannarale 1996 - - Germline yes - - - - DNA RFLP, SSCA, SEQ blood - retinal disease IV-5 PubMed: Pannarale 1996 proband's brother 3 M - Italy Sicilian - - - - 1 LOVD
+?/. 2 c.403C>T r.(?) p.(Arg135Trp) Paternal (confirmed) - likely pathogenic (dominant) g.129249760C>T g.129530917C>T RHO codon: 135, sequence: CGG-TGG, protein: Arg-Trp - RHO_000001 heterozygous; no nucleotide annotation, extrapolated from protein, sequence and databases PubMed: Pannarale 1996 - - Germline yes - - - - DNA RFLP, SSCA, SEQ blood - retinal disease V-7 PubMed: Pannarale 1996 proband's daughter 1 F - Italy Sicilian - - - - 1 LOVD
+?/. 2 c.403C>T r.(?) p.(Arg135Trp) Paternal (confirmed) - likely pathogenic (dominant) g.129249760C>T g.129530917C>T RHO codon: 135, sequence: CGG-TGG, protein: Arg-Trp - RHO_000001 heterozygous; no nucleotide annotation, extrapolated from protein, sequence and databases PubMed: Pannarale 1996 - - Germline yes - - - - DNA RFLP, SSCA, SEQ blood - retinal disease V-8 PubMed: Pannarale 1996 proband's daughter 2 F - Italy Sicilian - - - - 1 LOVD
+?/. 2 c.403C>T r.(?) p.(Arg135Trp) Paternal (confirmed) - likely pathogenic (dominant) g.129249760C>T g.129530917C>T RHO codon: 135, sequence: CGG-TGG, protein: Arg-Trp - RHO_000001 heterozygous; no nucleotide annotation, extrapolated from protein, sequence and databases PubMed: Pannarale 1996 - - Germline yes - - - - DNA RFLP, SSCA, SEQ blood - retinal disease V-10 PubMed: Pannarale 1996 proband's son M - Italy Sicilian - - - - 1 LOVD
+?/. 2 c.403C>T r.(?) p.(Arg135Trp) Paternal (confirmed) - likely pathogenic (dominant) g.129249760C>T g.129530917C>T RHO codon: 135, sequence: CGG-TGG, protein: Arg-Trp - RHO_000001 heterozygous; no nucleotide annotation, extrapolated from protein, sequence and databases PubMed: Pannarale 1996 - - Germline yes - - - - DNA RFLP, SSCA, SEQ blood - retinal disease V-12 PubMed: Pannarale 1996 proband's brother 2's daughter F - Italy Sicilian - - - - 1 LOVD
+?/. 2 c.403C>T r.(?) p.(Arg135Trp) Paternal (confirmed) - likely pathogenic (dominant) g.129249760C>T g.129530917C>T RHO codon: 135, sequence: CGG-TGG, protein: Arg-Trp - RHO_000001 heterozygous; no nucleotide annotation, extrapolated from protein, sequence and databases PubMed: Pannarale 1996 - - Germline yes - - - - DNA RFLP, SSCA, SEQ blood - retinal disease V-13 PubMed: Pannarale 1996 proband's brother 3's son 1 M - Italy Sicilian - - - - 1 LOVD
+?/. 2 c.403C>T r.(?) p.(Arg135Trp) Paternal (confirmed) - likely pathogenic (dominant) g.129249760C>T g.129530917C>T RHO codon: 135, sequence: CGG-TGG, protein: Arg-Trp - RHO_000001 heterozygous; no nucleotide annotation, extrapolated from protein, sequence and databases PubMed: Pannarale 1996 - - Germline yes - - - - DNA RFLP, SSCA, SEQ blood - retinal disease V-14 PubMed: Pannarale 1996 proband's brother 3's son 2 M - Italy Sicilian - - - - 1 LOVD
+?/. - c.403C>T r.(?) p.(Arg135Trp) Maternal (inferred) - likely pathogenic (dominant) g.129249760C>T g.129530917C>T RHO c.403C>T, (R135W) - RHO_000001 heterozygous PubMed: Bareil 1999 - - Germline yes - - - - DNA RFLP, SEQ blood - retinal disease Rho2 PubMed: Bareil 1999 pedigree unavailable; proband; not mentioned which family members were also tested F - France Greek - - - - 1 LOVD
+?/. - c.403C>T r.(?) p.(Arg135Trp) Unknown - likely pathogenic (dominant) g.129249760C>T g.129530917C>T RHO CGG to TGG, Arg135Trp - RHO_000001 heterozygous; no nucleotide annotation, extrapolated from protein and databases PubMed: Dryja 2000 - - Germline yes - - - - DNA SSCA, SEQ blood - retinal disease ? PubMed: Dryja 2000 no individual ID, only number of individuals with the mutation; mutation report ? - United States - - - - - 1 LOVD
+?/. - c.403C>T r.(?) p.(Arg135Trp) Unknown - likely pathogenic (dominant) g.129249760C>T g.129530917C>T RHO R135W - RHO_000001 heterozygous PubMed: Aleman 2008 - - Germline yes - - - - DNA SEQ blood - retinal disease 1_P1 PubMed: Aleman 2008 - F - United States - - - - - 1 LOVD
+?/. - c.403C>T r.(?) p.(Arg135Trp) Unknown - likely pathogenic (dominant) g.129249760C>T g.129530917C>T RHO R135W - RHO_000001 heterozygous PubMed: Aleman 2008 - - Germline yes - - - - DNA SEQ blood - retinal disease 1_P2 PubMed: Aleman 2008 - M - United States - - - - - 1 LOVD
+?/. - c.403C>T r.(?) p.(Arg135Trp) Unknown - likely pathogenic (dominant) g.129249760C>T g.129530917C>T RHO R135W - RHO_000001 heterozygous PubMed: Aleman 2008 - - Germline yes - - - - DNA SEQ blood - retinal disease 1_P3 PubMed: Aleman 2008 - F - United States - - - - - 1 LOVD
+?/. - c.403C>T r.(?) p.(Arg135Trp) Unknown - likely pathogenic (dominant) g.129249760C>T g.129530917C>T RHO R135W - RHO_000001 heterozygous PubMed: Aleman 2008 - - Germline yes - - - - DNA SEQ blood - retinal disease 2_P1 PubMed: Aleman 2008 - M - United States - - - - - 1 LOVD
+?/. - c.403C>T r.(?) p.(Arg135Trp) Unknown - likely pathogenic (dominant) g.129249760C>T g.129530917C>T RHO R135W - RHO_000001 heterozygous PubMed: Aleman 2008 - - Germline yes - - - - DNA SEQ blood - retinal disease 2_P2 PubMed: Aleman 2008 - F - United States - - - - - 1 LOVD
+?/. - c.403C>T r.(?) p.(Arg135Trp) Unknown - likely pathogenic (dominant) g.129249760C>T g.129530917C>T RHO R135W - RHO_000001 heterozygous PubMed: Aleman 2008 - - Germline yes - - - - DNA SEQ blood - retinal disease 3_P1 PubMed: Aleman 2008 - F - United States - - - - - 1 LOVD
+?/. - c.403C>T r.(?) p.(Arg135Trp) Maternal (inferred) - likely pathogenic (dominant) g.129249760C>T g.129530917C>T RHO c.403C>T, p.Arg135Trp - RHO_000001 heterozygous PubMed: Audo 2010 - - Germline yes - - - - DNA SEQ blood - retinal disease CIC 00501 PubMed: Audo 2010 Family 96/172, proband's brother 4 M - France French - - - - 1 LOVD
+?/. - c.403C>T r.(?) p.(Arg135Trp) Paternal (confirmed) - likely pathogenic (dominant) g.129249760C>T g.129530917C>T RHO c.403C>T, p.Arg135Trp - RHO_000001 heterozygous PubMed: Audo 2010 - - Germline yes - - - - DNA SEQ blood - retinal disease CIC 00364 PubMed: Audo 2010 Family 247, proband F - France French - - - - 1 LOVD
+?/. - c.403C>T r.(?) p.(Arg135Trp) Paternal (confirmed) - likely pathogenic (dominant) g.129249760C>T g.129530917C>T RHO c.403C>T, p.Arg135Trp - RHO_000001 heterozygous PubMed: Audo 2010 - - Germline yes - - - - DNA SEQ blood - retinal disease CIC 01052 PubMed: Audo 2010 Family 247, proband's brother M - France French - - - - 1 LOVD
+?/. - c.403C>T r.(?) p.(Arg135Trp) Paternal (confirmed) - likely pathogenic (dominant) g.129249760C>T g.129530917C>T RHO c.403C>T, p.Arg135Trp - RHO_000001 heterozygous PubMed: Audo 2010 - - Germline yes - - - - DNA SEQ blood - retinal disease CIC 01050 PubMed: Audo 2010 Family 247, proband's brother's daughter 1 F - France French - - - - 1 LOVD
+?/. - c.403C>T r.(?) p.(Arg135Trp) Paternal (confirmed) - likely pathogenic (dominant) g.129249760C>T g.129530917C>T RHO c.403C>T, p.Arg135Trp - RHO_000001 heterozygous PubMed: Audo 2010 - - Germline yes - - - - DNA SEQ blood - retinal disease CIC 01068 PubMed: Audo 2010 Family 247, proband's brother's daughter 2 F - France French - - - - 1 LOVD
+?/. - c.403C>T r.(?) p.(Arg135Trp) Unknown - likely pathogenic (dominant) g.129249760C>T g.129530917C>T RHO c.403C>T, p.Arg135Trp - RHO_000001 heterozygous PubMed: Audo 2010 - - Germline yes - - - - DNA SEQ blood - retinal disease CIC 01045 PubMed: Audo 2010 Family 247, proband's father M - France French - - - - 1 LOVD
+?/. - c.403C>T r.(?) p.(Arg135Trp) Paternal (confirmed) - likely pathogenic (dominant) g.129249760C>T g.129530917C>T RHO c.403C>T, p.Arg135Trp - RHO_000001 heterozygous PubMed: Audo 2010 - - Germline yes - - - - DNA SEQ blood - retinal disease CIC 01055 PubMed: Audo 2010 Family 247, proband's sister F - France French - - - - 1 LOVD
+?/. - c.403C>T r.(?) p.(Arg135Trp) Maternal (confirmed) - likely pathogenic (dominant) g.129249760C>T g.129530917C>T RHO c.403C>T, p.Arg135Trp - RHO_000001 heterozygous PubMed: Audo 2010 - - Germline yes - - - - DNA SEQ blood - retinal disease CIC 01054 PubMed: Audo 2010 Family 247, proband's sister's daughter F - France French - - - - 1 LOVD
+?/. - c.403C>T r.(?) p.(Arg135Trp) Maternal (confirmed) - likely pathogenic (dominant) g.129249760C>T g.129530917C>T RHO c.403C>T, p.Arg135Trp - RHO_000001 heterozygous PubMed: Audo 2010 - - Germline yes - - - - DNA SEQ blood - retinal disease CIC 01047 PubMed: Audo 2010 Family 247, proband's sister's son M - France French - - - - 1 LOVD
+?/. - c.403C>T r.(?) p.(Arg135Trp) Maternal (confirmed) - likely pathogenic (dominant) g.129249760C>T g.129530917C>T RHO c.403C>T, p.Arg135Trp - RHO_000001 heterozygous PubMed: Audo 2010 - - Germline yes - - - - DNA SEQ blood - retinal disease CIC 00974 PubMed: Audo 2010 Family 610, proband M - France French - - - - 1 LOVD
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