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.

59 entries on 1 page. Showing entries 1 - 59.
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DNA change (genomic) (hg19)     

DNA change (hg38)     

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+/. - c.50C>T r.(?) p.(Thr17Met) Unknown - pathogenic g.129247626C>T g.129528783C>T - - RHO_000040 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 - rs104893769 Germline - 3/1204 cases with retinitis pigmentosa - - - DNA SEQ-NG - - retinal disease - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 analysis 1204 retinitis pigmentosa cases - - Japan - - - - - 3 Yoshito Koyanagi
+?/. - c.50C>T r.(?) p.(Thr17Met) Parent #1 - likely pathogenic g.129247626C>T g.129528783C>T - - RHO_000040 - PubMed: Holtan 2020 - - Germline - 4/899 cases - - - DNA SEQ - - retinal disease - PubMed: Holtan 2020 4 patients with variant in heterozygous or compound heterozygous form - - Norway - - - - - 4 Global Variome, with Curator vacancy
+?/. - c.50C>T r.(?) p.(Thr17Met) Parent #1 ACMG likely pathogenic (dominant) g.129247626C>T - - - RHO_000040 - PubMed: Kim 2019 - - Germline - 1/86 cases - - - DNA SEQ, SEQ-NG - 204 gene panel retinal disease - PubMed: Kim 2019 - - - Korea - - - - - 1 Global Variome, with Curator vacancy
+?/. - c.50C>T r.(?) p.(Thr17Met) Parent #1 ACMG likely pathogenic (dominant) g.129247626C>T - - - RHO_000040 - PubMed: Kim 2019 - - Germline - 1/86 cases - - - DNA SEQ, SEQ-NG - 204 gene panel retinal disease - PubMed: Kim 2019 - - - Korea - - - - - 1 Global Variome, with Curator vacancy
+/. 1 c.50C>T r.(?) p.(Thr17Met) Parent #1 - pathogenic (dominant) g.129247626C>T - - - RHO_000040 - PubMed: Sohocki 2001 - - Germline - - - - - DNA SSCA, SEQ - - retinal disease - PubMed: Sohocki 2001 - - - - - - - - - 1 Julia Lopez
+?/. - c.50C>T r.(?) p.(Thr17Met) Unknown - likely pathogenic g.129247626C>T g.129528783C>T - - RHO_000040 - PubMed: Stone 2017 - - Germline - - - - - DNA SEQ-NG - - retinal disease 318 PubMed: Stone 2017 1 affected F - (United States) - - - - - 1 LOVD
+/. 1 c.50C>T r.(?) p.(Thr17Met) Parent #1 - pathogenic g.129247626C>T - 50C>T - RHO_000040 - PubMed: Sullivan 2006 - - Germline yes - - - - DNA SEQ - - retinal disease - PubMed: Sullivan 2006 1 family - - United States - - - - - 1 Julia Lopez
+/. 1 c.50C>T r.(?) p.(Thr17Met) Unknown - pathogenic (dominant) g.129247626C>T g.129528783C>T - - RHO_000040 - PubMed: Fernandez 2014 - - Germline - - - - - DNA DGGE, SEQ - - retinal disease RP‐0706 PubMed: Fernandez 2014 - - - Spain - - - - - 1 LOVD
+?/. 1 c.50C>T r.(?) p.(Thr17Met) Unknown - likely pathogenic g.129247626C>T g.129528783C>T - - RHO_000040 - 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.50C>T r.(?) p.(Thr17Met) Unknown - likely pathogenic g.129247626C>T g.129528783C>T - - RHO_000040 - 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.50C>T r.(?) p.(Thr17Met) Unknown ACMG pathogenic g.129247626C>T g.129528783C>T NM_000539.3:c.50C>T, NP_000530.1:p.(Thr17Met), NC_000003.11:g.129247626C>T - RHO_000040 - PubMed: Wang 2018 - - Germline ? - - - - DNA SEQ-NG - panel of 441 hereditary eye disease genes including 291 genes related to IRD retinal disease 2016121220 PubMed: Wang 2018 - M ? China Han Chinese - - - - 1 LOVD
+/. 1 c.50C>T r.(?) p.(Thr17Met) Unknown - pathogenic g.129247626C>T - Thr17Met - RHO_000040 - PubMed: Bunge_1993 - - Unknown - - - - - DNA PCR, SSCA blood - retinal disease - PubMed: Bunge_1993 - - - - - - - - - 1 LOVD
?/. 1 c.50C>T r.(?) p.(Thr17Met) Unknown - VUS g.129247626C>T - c.50C>T - RHO_000040 - PubMed: Kim-2012 - - Unknown - 1/336 cases; 0/360 controls - - - DNA PCR blood - retinal disease - PubMed: Kim-2012 - - - China - - - - - 1 LOVD
+?/. 1 c.50C>T r.(?) p.(Thr17Met) Unknown - likely pathogenic g.129247626C>T - c.50C>T - RHO_000040 - PubMed: Sullivan-2013 - - Unknown - - - - - DNA SEQ, PCR blood - retinal disease - PubMed: Sullivan-2013 - - no - - - - - - 1 LOVD
+/. - c.50C>T r.(?) p.(Thr17Met) Unknown ACMG pathogenic g.129247626C>T g.129528783C>T RHO c.50C>T, p.(Thr17Met) - RHO_000040 - PubMed: Jespersgaar 2019 - - Germline ? - - - - DNA SEQ-NG-I blood 125 genes associated with inherited retinal disorders, see paper supplemental data retinal disease 218 PubMed: Jespersgaar 2019 - ? - Denmark - - - - - 1 LOVD
+?/. - c.50C>T r.(?) p.(Thr17Met) Unknown ACMG likely pathogenic g.129247626C>T g.129528783C>T RHO c.50C>T, p.T17M - RHO_000040 - PubMed: Kim 2019 - - Germline ? - - - - DNA SEQ-NG-I blood 204 genes associated with inherited retinal disorders, see paper retinal disease ? PubMed: Kim 2019 - ? - Korea, South (Republic) - - - - - 1 LOVD
+?/. - c.50C>T r.(?) p.(Thr17Met) Unknown ACMG likely pathogenic g.129247626C>T g.129528783C>T RHO c.50C>T, p.T17M - RHO_000040 - PubMed: Kim 2019 - - Germline ? - - - - DNA SEQ-NG-I blood 204 genes associated with inherited retinal disorders, see paper retinal disease ? PubMed: Kim 2019 - ? - Korea, South (Republic) - - - - - 1 LOVD
+?/. - c.50C>T r.(?) p.(Thr17Met) Unknown - likely pathogenic g.129247626C>T g.129528783C>T RHO c.50C>T, p.T17M - RHO_000040 heterozygous PubMed: Jauregui 2020 - - Unknown ? - - - - DNA SEQ-NG blood targeted sequencing retinal disease 34 PubMed: Jauregui 2020 - F - (United States) white - - - - 1 LOVD
+?/. - c.50C>T r.(?) p.(Thr17Met) Unknown - likely pathogenic g.129247626C>T g.129528783C>T RHO c.50C>T, p.T17M - RHO_000040 heterozygous PubMed: Jauregui 2020 - - Unknown ? - - - - DNA SEQ-NG blood targeted sequencing retinal disease 39 PubMed: Jauregui 2020 - M - (United States) Hispanic - - - - 1 LOVD
+?/. - c.50C>T r.(?) p.(Thr17Met) Unknown - likely pathogenic g.129247626C>T g.129528783C>T RHO c.50C>T, p.T17M - RHO_000040 heterozygous PubMed: Jauregui 2020 - - Unknown ? - - - - DNA SEQ-NG blood targeted sequencing retinal disease 40 PubMed: Jauregui 2020 - F - (United States) Hispanic - - - - 1 LOVD
+?/. - c.50C>T r.(?) p.(Thr17Met) Parent #1 - likely pathogenic g.129247626C>T g.129528783C>T RHO, variant 1: c.50C>T/p.T17M - RHO_000040 solved, heterozygous PubMed: Weisschuh 2020 - - Unknown ? - - - - DNA SEQ-NG blood RET7 targeted sequencing panel - see paper retinal disease 265 PubMed: Weisschuh 2020 Filing key number: 89, autosomal dominant retinitis pigmentosa, no patient Ids, consecutive numbers given F - Germany - - - - - 1 LOVD
+?/. - c.50C>T r.(?) p.(Thr17Met) Parent #1 - likely pathogenic g.129247626C>T g.129528783C>T RHO, variant 1: c.50C>T/p.T17M - RHO_000040 solved, heterozygous PubMed: Weisschuh 2020 - - Unknown ? - - - - DNA SEQ blood Sanger sequencing retinal disease 266 PubMed: Weisschuh 2020 Filing key number: 89, autosomal dominant retinitis pigmentosa, no patient Ids, consecutive numbers given M - Germany - - - - - 1 LOVD
+?/. - c.50C>T r.(?) p.(Thr17Met) Parent #1 - likely pathogenic g.129247626C>T g.129528783C>T RHO, variant 1: c.50C>T/p.T17M - RHO_000040 solved, heterozygous PubMed: Weisschuh 2020 - - Unknown ? - - - - DNA SEQ blood Sanger sequencing retinal disease 267 PubMed: Weisschuh 2020 Filing key number: 89, autosomal dominant retinitis pigmentosa, no patient Ids, consecutive numbers given M - Germany - - - - - 1 LOVD
+?/. - c.50C>T r.(?) p.(Thr17Met) Parent #1 - likely pathogenic g.129247626C>T g.129528783C>T RHO, variant 1: c.50C>T/p.T17M - RHO_000040 solved, heterozygous PubMed: Weisschuh 2020 - - Unknown ? - - - - DNA SEQ blood Sanger sequencing retinal disease 268 PubMed: Weisschuh 2020 Filing key number: 89, autosomal dominant retinitis pigmentosa, no patient Ids, consecutive numbers given M - Germany - - - - - 1 LOVD
+?/. - c.50C>T r.(?) p.(Thr17Met) Parent #1 - likely pathogenic g.129247626C>T g.129528783C>T RHO, variant 1: c.50C>T/p.T17M - RHO_000040 solved, heterozygous PubMed: Weisschuh 2020 - - Unknown ? - - - - DNA SEQ blood Sanger sequencing retinal disease 763 PubMed: Weisschuh 2020 Filing key number: 296, autosomal dominant retinitis pigmentosa, no patient Ids, consecutive numbers given F - Germany - - - - - 1 LOVD
+?/. - c.50C>T r.(?) p.(Thr17Met) Parent #1 - likely pathogenic g.129247626C>T g.129528783C>T RHO, variant 1: c.50C>T/p.T17M - RHO_000040 solved, heterozygous PubMed: Weisschuh 2020 - - Unknown ? - - - - DNA SEQ-NG blood RET8 targeted sequencing panel - see paper retinal disease 764 PubMed: Weisschuh 2020 Filing key number: 296, autosomal dominant retinitis pigmentosa, no patient Ids, consecutive numbers given M - Germany - - - - - 1 LOVD
+?/. - c.50C>T r.(?) p.(Thr17Met) Parent #1 - likely pathogenic g.129247626C>T g.129528783C>T RHO, variant 1: c.50C>T/p.T17M - RHO_000040 solved, heterozygous PubMed: Weisschuh 2020 - - Unknown ? - - - - DNA SEQ-NG blood RET2 targeted sequencing panel - see paper retinal disease 1097 PubMed: Weisschuh 2020 Filing key number: 736, sporadic retinitis pigmentosa, no patient Ids, consecutive numbers given M - Germany - - - - - 1 LOVD
+?/. - c.50C>T r.(?) p.(Thr17Met) Unknown ACMG likely pathogenic g.129247626C>T g.129528783C>T RHO c.C50T, p.T17M - RHO_000040 marked as causative, heterozygous PubMed: Ma 2021 - - Unknown ? - - - - DNA SEQ-NG-I, SEQ - whole exome sequencing retinal disease 149 PubMed: Ma 2021 - ? - Korea - - - - - 1 LOVD
+?/. 1 c.50C>T r.(?) p.(Thr17Met) Unknown - likely pathogenic (dominant) g.129247626C>T - c.50C>T - RHO_000040 - PubMed: Liu-2020 - - Germline - - - - - DNA SEQ-NG - hereditary eye disease enrichment panel (HEDEP) retinal disease - PubMed: Liu-2020 - M - - - - - - - 1 LOVD
+?/. - c.50C>T r.(?) p.(Thr17Met) Maternal (inferred) - likely pathogenic (dominant) g.129247626C>T g.129528783C>T RHO codon 17, sequence: ACG->ATG, amino acid change: Thr->Met - RHO_000040 heterozygous PubMed: Dryja 1991 - rs104893769 Germline yes - - - - DNA SSCA - - retinal disease fam5926patII:3 PubMed: Dryja 1991 proband M - United States - - - - - 1 LOVD
+?/. - c.50C>T r.(?) p.(Thr17Met) Unknown - likely pathogenic (dominant) g.129247626C>T g.129528783C>T RHO codon 17, sequence: ACG->ATG, amino acid change: Thr->Met - RHO_000040 heterozygous PubMed: Dryja 1991 - rs104893769 Germline yes - - - - DNA SSCA - - retinal disease fam5926patI:5 PubMed: Dryja 1991 - F - United States - - - - - 1 LOVD
+?/. - c.50C>T r.(?) p.(Thr17Met) Maternal (inferred) - likely pathogenic (dominant) g.129247626C>T g.129528783C>T RHO codon 17, sequence: ACG->ATG, amino acid change: Thr->Met - RHO_000040 heterozygous PubMed: Dryja 1991 - rs104893769 Germline yes - - - - DNA SSCA - - retinal disease fam5926patII:2 PubMed: Dryja 1991 - F - United States - - - - - 1 LOVD
+?/. - c.50C>T r.(?) p.(Thr17Met) Maternal (inferred) - likely pathogenic (dominant) g.129247626C>T g.129528783C>T RHO codon 17, sequence: ACG->ATG, amino acid change: Thr->Met - RHO_000040 heterozygous PubMed: Dryja 1991 - rs104893769 Germline yes - - - - DNA SSCA - - retinal disease fam5926patII:5 PubMed: Dryja 1991 - F - United States - - - - - 1 LOVD
+?/. - c.50C>T r.(?) p.(Thr17Met) Maternal (confirmed) - likely pathogenic (dominant) g.129247626C>T g.129528783C>T RHO codon 17, sequence: ACG->ATG, amino acid change: Thr->Met - RHO_000040 heterozygous PubMed: Dryja 1991 - rs104893769 Germline yes - - - - DNA SSCA - - retinal disease fam5926patIII:1 PubMed: Dryja 1991 - F - United States - - - - - 1 LOVD
+?/. - c.50C>T r.(?) p.(Thr17Met) Maternal (confirmed) - likely pathogenic (dominant) g.129247626C>T g.129528783C>T RHO codon 17, sequence: ACG->ATG, amino acid change: Thr->Met - RHO_000040 heterozygous PubMed: Dryja 1991 - rs104893769 Germline yes - - - - DNA SSCA - - retinal disease fam5926patIII:4 PubMed: Dryja 1991 - M - United States - - - - - 1 LOVD
+?/. - c.50C>T r.(?) p.(Thr17Met) Maternal (confirmed) - likely pathogenic (dominant) g.129247626C>T g.129528783C>T RHO codon 17, sequence: ACG->ATG, amino acid change: Thr->Met - RHO_000040 heterozygous PubMed: Dryja 1991 - rs104893769 Germline yes - - - - DNA SSCA - - retinal disease fam5926patIII:7 PubMed: Dryja 1991 - F - United States - - - - - 1 LOVD
+?/. - c.50C>T r.(?) p.(Thr17Met) Maternal (confirmed) - likely pathogenic (dominant) g.129247626C>T g.129528783C>T RHO codon 17, sequence: ACG->ATG, amino acid change: Thr->Met - RHO_000040 heterozygous PubMed: Dryja 1991 - rs104893769 Germline yes - - - - DNA SSCA - - retinal disease fam5926patIII:8 PubMed: Dryja 1991 - F - United States - - - - - 1 LOVD
+?/. - c.50C>T r.(?) p.(Thr17Met) Paternal (inferred) - likely pathogenic (dominant) g.129247626C>T g.129528783C>T RHO C344T, T17M - RHO_000040 heterozygous PubMed: Sung 1991 - - Germline yes - - - - DNA DGGE, ASO - - retinal disease A_1 PubMed: Sung 1991 Family A M - United States - - - - - 1 LOVD
+?/. - c.50C>T r.(?) p.(Thr17Met) Maternal (inferred) - likely pathogenic (dominant) g.129247626C>T g.129528783C>T RHO C344T, T17M - RHO_000040 heterozygous PubMed: Sung 1991 - - Germline yes - - - - DNA DGGE, ASO - - retinal disease A_4 PubMed: Sung 1991 Family A M - United States - - - - - 1 LOVD
+?/. - c.50C>T r.(?) p.(Thr17Met) Paternal (confirmed) - likely pathogenic (dominant) g.129247626C>T g.129528783C>T RHO C344T, T17M - RHO_000040 heterozygous PubMed: Sung 1991 - - Germline yes - - - - DNA DGGE, ASO - - retinal disease A_5 PubMed: Sung 1991 Family A M - United States - - - - - 1 LOVD
+?/. - c.50C>T r.(?) p.(Thr17Met) Maternal (inferred) - likely pathogenic (dominant) g.129247626C>T g.129528783C>T RHO C344T, T17M - RHO_000040 heterozygous PubMed: Sung 1991 - - Germline yes - - - - DNA DGGE, ASO - - retinal disease A_6 PubMed: Sung 1991 Family A M - United States - - - - - 1 LOVD
+?/. - c.50C>T r.(?) p.(Thr17Met) Paternal (confirmed) - likely pathogenic (dominant) g.129247626C>T g.129528783C>T RHO C344T, T17M - RHO_000040 heterozygous PubMed: Sung 1991 - - Germline yes - - - - DNA DGGE, ASO - - retinal disease A_7 PubMed: Sung 1991 Family A M - United States - - - - - 1 LOVD
+?/. - c.50C>T r.(?) p.(Thr17Met) Unknown - likely pathogenic (dominant) g.129247626C>T g.129528783C>T RHO C-to-T transition in codon 17 Thr/Met - RHO_000040 heterozygous PubMed: Sheffield 1991 - - Germline yes - - - - DNA DGGE, SEQ - - retinal disease A_I:1 PubMed: Sheffield 1991 Family A F - United States - - - - - 1 LOVD
+?/. - c.50C>T r.(?) p.(Thr17Met) Unknown - likely pathogenic (dominant) g.129247626C>T g.129528783C>T RHO C-to-T transition in codon 17 Thr/Met - RHO_000040 heterozygous PubMed: Sheffield 1991 - - Germline yes - - - - DNA DGGE - - retinal disease A_I:2 PubMed: Sheffield 1991 Family A M - United States - - - - - 1 LOVD
+?/. - c.50C>T r.(?) p.(Thr17Met) Unknown - likely pathogenic (dominant) g.129247626C>T g.129528783C>T RHO C-to-T transition in codon 17 Thr/Met - RHO_000040 heterozygous PubMed: Sheffield 1991 - - Germline yes - - - - DNA DGGE - - retinal disease A_I:3 PubMed: Sheffield 1991 Family A M - United States - - - - - 1 LOVD
+?/. - c.50C>T r.(?) p.(Thr17Met) Unknown - likely pathogenic (dominant) g.129247626C>T g.129528783C>T RHO C-to-T transition in codon 17 Thr/Met - RHO_000040 heterozygous PubMed: Sheffield 1991 - - Germline yes - - - - DNA DGGE - - retinal disease A_I:6 PubMed: Sheffield 1991 Family A M - United States - - - - - 1 LOVD
+?/. - c.50C>T r.(?) p.(Thr17Met) Paternal (confirmed) - likely pathogenic (dominant) g.129247626C>T g.129528783C>T RHO C-to-T transition in codon 17 Thr/Met - RHO_000040 heterozygous PubMed: Sheffield 1991 - - Germline yes - - - - DNA DGGE - - retinal disease A_II:1 PubMed: Sheffield 1991 Family A F - United States - - - - - 1 LOVD
+?/. - c.50C>T r.(?) p.(Thr17Met) Paternal (confirmed) - likely pathogenic (dominant) g.129247626C>T g.129528783C>T RHO C-to-T transition in codon 17 Thr/Met - RHO_000040 heterozygous PubMed: Sheffield 1991 - - Germline yes - - - - DNA DGGE - - retinal disease A_II:2 PubMed: Sheffield 1991 Family A F - United States - - - - - 1 LOVD
+/. - c.50C>T r.(?) p.(Thr17Met) Unknown - pathogenic (dominant) g.129247626C>T g.129528783C>T RHO codon: 17, sequence: ACG-ATG, protein: Thr-Met - RHO_000040 heterozygous PubMed: Fujiki 1992 - - Germline yes - - - - DNA Southern blood - retinal disease no.5 PubMed: Fujiki 1992 Family I, proband M - Japan - - - - - 1 LOVD
+?/. - c.50C>T r.(?) p.(Thr17Met) Unknown - likely pathogenic (dominant) g.129247626C>T g.129528783C>T RHO codon: 17, sequence: ACG-ATG, protein: Thr-Met - RHO_000040 heterozygous PubMed: Bell 1994 - - Germline yes - - - - DNA SSCA, SEQ blood - retinal disease B-6183_II:4 PubMed: Bell 1994 proband F - United Kingdom (Great Britain) Scottish - - - - 1 LOVD
+?/. - c.50C>T r.(?) p.(Thr17Met) Maternal (confirmed) - likely pathogenic (dominant) g.129247626C>T g.129528783C>T RHO codon: 17, sequence: ACG-ATG, protein: Thr-Met - RHO_000040 heterozygous PubMed: Bell 1994 - - Germline yes - - - - DNA SSCA, SEQ blood - retinal disease B-6183_III:6 PubMed: Bell 1994 proband's daughter F - United Kingdom (Great Britain) Scottish - - - - 1 LOVD
+?/. - c.50C>T r.(?) p.(Thr17Met) Unknown - likely pathogenic (dominant) g.129247626C>T g.129528783C>T RHO ACG to ATG, Thr17Met - RHO_000040 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.50C>T r.(?) p.(Thr17Met) Unknown - pathogenic (dominant) g.129247626C>T g.129528783C>T RHO T17M - RHO_000040 cell line data; no nucleotide annotation, extrapolated from protein and databases; intermediate misfolding; unlike WT rhodopsin noshift from the dark state to MII (380 nm), increased absorbance at longer wavelengths; significant loss of of the visible peak in 37deg; rhodopsin levels were increased by 3.5-fold to 4.8-fold when 11-cis retinal was present during opsin synthesis; rhodopsin yields were much lower than that for WT suggesting that the expression or folding of these proteins is defective PubMed: Krebs_2010 - - In vitro (cloned) ? - - - - DNA ? - - retinal disease ? PubMed: Krebs_2010 cell line data ? - - - - - - - 1 LOVD
+?/. - c.50C>T r.(?) p.(Thr17Met) Maternal (inferred) - likely pathogenic (dominant) g.129247626C>T g.129528783C>T RHO c.50C>T, Thr17Met - RHO_000040 heterozygous PubMed: Roberts 2008 - - Germline yes - - - - DNA SEQ blood - retinal disease 63 PubMed: Roberts 2008 proband F - South Africa white - - - - 1 LOVD
+?/. - c.50C>T r.(?) p.(Thr17Met) Maternal (confirmed) - likely pathogenic (dominant) g.129247626C>T g.129528783C>T RHO c.50C>T, Thr17Met - RHO_000040 heterozygous PubMed: Roberts 2008 - - Germline yes - - - - DNA RFLP blood - retinal disease 63 PubMed: Roberts 2008 proband's sister 1's son M - South Africa white - - - vitamin A supplementation from 1999-2006, vision reported to be stable during this time 1 LOVD
+?/. - c.50C>T r.(?) p.Thr17Met Paternal (inferred) - likely pathogenic (dominant) g.129247626C>T g.129528783C>T RHO c.50C>T, p.Thr17Met - RHO_000040 heterozygous PubMed: Kim 2011 - - Germline yes - - - - DNA SEQ blood - retinal disease III-5 PubMed: Kim 2011 Family A, proband M - Korea, South (Republic) Korean - - - - 1 LOVD
+?/. - c.50C>T r.(?) p.(Thr17Met) Unknown - likely pathogenic (dominant) g.129247626C>T g.129528783C>T RHO p.T17M - RHO_000040 heterozygous PubMed: Xiao 2019 - - Germline yes - - - - DNA SEQ-NG blood targeted exome sequencing (TES) panel - 188 known inherited retinal degeneration retinal disease 10418 PubMed: Xiao 2019 - M - China - - - - - 1 LOVD
+?/. - c.50C>T r.(?) p.(Thr17Met) Unknown - likely pathogenic (dominant) g.129247626C>T g.129528783C>T RHO c.50C>T p.T17M - RHO_000040 heterozygous PubMed: Luo 2020 - - Unknown yes - - - - DNA SEQ-NG, SEQ blood whole exome sequencing or targeted exome sequencing retinal disease 11326 II: 1 PubMed: Luo 2020 - M - China - - - - - 1 LOVD
+/. - c.50C>T r.(?) p.(Thr17Met) Unknown ACMG pathogenic g.129247626C>T g.129528783C>T - - RHO_000040 ACMG PM2, PM5, PM1, PP2, PP5_STRONG PubMed: Weisschuh 2024 13018 - Germline - - - - - DNA SEQ-NG - WGS ? ADRP-497 PubMed: Weisschuh 2024 family, 2 affected F - Germany - - - - - 2 Johan den Dunnen
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