Full data view for gene RS1

This database is one of the "Eye disease" gene variant databases.
Information The variants shown are described using the NM_000330.3 transcript reference sequence.

25 entries on 1 page. Showing entries 1 - 25.
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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     
+/. 6 c.626G>A r.(?) p.(Arg209His) Maternal (inferred) - pathogenic g.18660173C>T g.18642053C>T - - RS1_000009 - PubMed: Sauer 1997 - - Germline - - - - - DNA SSCA - - RS1 - PubMed: Sauer 1997 - ? - Germany - - - - - 1 Johan den Dunnen
+/. 6 c.626G>A r.(?) p.(Arg209His) Maternal (inferred) - pathogenic g.18660173C>T g.18642053C>T - - RS1_000009 - PubMed: RS-consortium 1998, group 5 - - De novo - - - - - DNA SSCA - - RS1 - PubMed: RS-consortium 1998, group 5 - ? - Germany - - - - - 1 Johan den Dunnen
+/. 6 c.626G>A r.(?) p.(Arg209His) Maternal (inferred) - pathogenic g.18660173C>T g.18642053C>T - - RS1_000009 - PubMed: RS-consortium 1998, group 5 - - Germline - - - - - DNA SSCA - - RS1 - PubMed: RS-consortium 1998, group 5 - ? - Germany - - - - - 1 Johan den Dunnen
+/. 6 c.626G>A r.(?) p.(Arg209His) Maternal (inferred) - pathogenic g.18660173C>T g.18642053C>T - - RS1_000009 - PubMed: RS-consortium 1998, group 1 - - Germline - - - - - DNA DGGE - - RS1 - PubMed: RS-consortium 1998, group 1 - ? - Netherlands - - - - - 1 Johan den Dunnen
+/. 6 c.626G>A r.(?) p.(Arg209His) Maternal (confirmed) - pathogenic g.18660173C>T g.18642053C>T - - RS1_000009 - PubMed: Li 2007, PubMed: Ma 2008 - - Germline - - - - - DNA SEQ - - RS1 - PubMed: Li 2007, PubMed: Ma 2008 4-generation family, 3 affecteds, 3 carriers M - China - - - - - 6 Johan den Dunnen
+/. 6 c.626G>A r.(?) p.(Arg209His) Maternal (inferred) - pathogenic g.18660173C>T g.18642053C>T - - RS1_000009 - Riveiro-Alvarez ESHG2008 P05.213;PubMed: Riveiro-Alvarez 2009 - - Germline - - - - - DNA SEQ - - ? - Riveiro-Alvarez ESHG2008 P05.213;PubMed: Riveiro-Alvarez 2009 found in healthy male M - Spain - - - - - 1 Johan den Dunnen
+/. 6 c.626G>A r.(?) p.(Arg209His) Maternal (inferred) - pathogenic g.18660173C>T g.18642053C>T - - RS1_000009 - PubMed: Renner 2008 - - Germline - - - - - DNA SEQ - - RS1 - PubMed: Renner 2008 - M - Germany - - - - - 1 Johan den Dunnen
+/. 6 c.626G>A r.(?) p.(Arg209His) Maternal (inferred) - pathogenic g.18660173C>T g.18642053C>T - - RS1_000009 - PubMed: Renner 2008 - - Germline - - - - - DNA SEQ - - RS1 - PubMed: Renner 2008 - M - Germany - - - - - 1 Johan den Dunnen
+?/. - c.626G>A r.(?) p.Arg209His Maternal (inferred) - likely pathogenic g.18660173C>T g.18642053C>T c.626G>A, p.Arg209His - RS1_000009 mutation based on abstract (article in Chinese) PubMed: Chu 2013 - - Germline yes - - - - DNA SEQ - - retinal disease 2 PubMed: Chu 2013 Family 2, proband (only from abstract) M - China - - - - - 1 LOVD
+?/. - c.626G>A r.(?) p.(Arg209His) Maternal (confirmed) - likely pathogenic g.18660173C>T g.18642053C>T c.626G>A p.Arg209His - RS1_000009 - PubMed: Hu 2017 - - Germline yes - - - - DNA SEQ blood - retinal disease 8 PubMed: Hu 2017 - M - - - - - - - 1 LOVD
+?/. - c.626G>A r.(?) p.(Arg209His) Maternal (confirmed) - likely pathogenic g.18660173C>T g.18642053C>T c.626G>A p.Arg209His - RS1_000009 - PubMed: Hu 2017 - - Germline yes - - - - DNA SEQ blood - retinal disease 11 PubMed: Hu 2017 - M - - - - - - - 1 LOVD
+?/. - c.626G>A r.(?) p.(Arg209His) Maternal (inferred) - likely pathogenic g.18660173C>T g.18642053C>T RS1 c.626G>A, p.(Arg209His) - RS1_000009 - PubMed: Wang 2015 - - Unknown ? - - - - DNA SEQ blood - retinal disease II-1 PubMed: Wang 2015 Family N, patient II-1 M - Taiwan - - - - - 1 LOVD
+/. 6 c.626G>A r.(?) p.(Arg209His) Maternal (inferred) ACMG pathogenic g.18660173C>T g.18642053C>T RS1 c.626G>A , p.R209H - RS1_000009 number of alleles does not match number of patients (91 vs 90) PubMed: Chen 2020 - - Unknown ? 3/90 - - - DNA SEQ, SEQ-NG blood Sanger-DNA sequencing of RS1 and targeted next-generation sequencing retinal disease 79 PubMed: Chen 2020 no patient numbering in the paper, numbers given consecutively; actual number in table does not match number of patients in text (91 vs 90) M - China - - - - - 1 LOVD
+/. 6 c.626G>A r.(?) p.(Arg209His) Maternal (inferred) ACMG pathogenic g.18660173C>T g.18642053C>T RS1 c.626G>A , p.R209H - RS1_000009 number of alleles does not match number of patients (91 vs 90) PubMed: Chen 2020 - - Unknown ? 3/90 - - - DNA SEQ, SEQ-NG blood Sanger-DNA sequencing of RS1 and targeted next-generation sequencing retinal disease 80 PubMed: Chen 2020 no patient numbering in the paper, numbers given consecutively; actual number in table does not match number of patients in text (91 vs 90) M - China - - - - - 1 LOVD
+/. 6 c.626G>A r.(?) p.(Arg209His) Maternal (inferred) ACMG pathogenic g.18660173C>T g.18642053C>T RS1 c.626G>A , p.R209H - RS1_000009 number of alleles does not match number of patients (91 vs 90) PubMed: Chen 2020 - - Unknown ? 3/90 - - - DNA SEQ, SEQ-NG blood Sanger-DNA sequencing of RS1 and targeted next-generation sequencing retinal disease 81 PubMed: Chen 2020 no patient numbering in the paper, numbers given consecutively; actual number in table does not match number of patients in text (91 vs 90) M - China - - - - - 1 LOVD
+/. - c.626G>A r.(?) p.(Arg209His) Parent #1 ACMG pathogenic (dominant) g.18660173C>T g.18642053C>T - - RS1_000009 ACMG PP3, PM2, PM5, PM1, PP2, PP5_STRONG PubMed: Weisschuh 2024 - - Germline - - - - - DNA SEQ-NG - WGS ? SCHI-79 PubMed: Weisschuh 2024 family, 2 affected M - Germany - - - - - 2 Johan den Dunnen
+/. - c.626G>A r.(?) p.(Arg209His) Unknown ACMG pathogenic (recessive) g.18660173C>T g.18642053C>T - - RS1_000009 ACMG PP3, PP4, PP5, PM1, PM2, PM3, PM5 PubMed: D'Anna Mardero 2024 - - Germline/De novo (untested) - - - - - DNA SEQ - - RS1 Pat5 PubMed: D'Anna Mardero 2024 patient, no family history M - Spain Latino - - - - 1 Johan den Dunnen
+/. - c.626G>A r.(?) p.(Arg209His) Unknown ACMG pathogenic (recessive) g.18660173C>T g.18642053C>T - - RS1_000009 ACMG PP3, PP4, PP5, PM1, PM2, PM3, PM5 PubMed: D'Anna Mardero 2024 - - Germline - - - - - DNA SEQ - - RS1 Pat17 PubMed: D'Anna Mardero 2024 patient, family history M - Spain Europe - - - - 2 Johan den Dunnen
+/. 6 c.626G>A r.(?) p.(Arg209His) Unknown - pathogenic (recessive) g.18660173C>T g.18642053C>T - - RS1_000009 - PubMed: Hahn 2022 - - Germline - - - - - DNA SEQ - - RS1 Var50 PubMed: Hahn 2022 patient M - (Belgium);(Netherlands) - - - - - 1 Johan den Dunnen
+/. - c.626G>A r.(?) p.(Arg209His) Unknown ACMG pathogenic (recessive) g.18660173C>T g.18642053C>T - - RS1_000009 - PubMed: Wey 2023 - - Germline - - - - - DNA SEQ - - RS1 - PubMed: Wey 2023 patient M - (Belgium);(Netherlands) - - - - - 1 Johan den Dunnen
+/. 6 c.626G>A r.(?) p.(Arg209His) Unknown ACMG pathogenic (recessive) g.18660173C>T g.18642053C>T - - RS1_000009 ACMG PS4, PM1, PM2, PP3, PP4, PM5 PubMed: Bender 2022 - - Germline - - - - - DNA SEQ - - RS1 Var92.1 PubMed: Bender 2022 proband M - - - - - - - 1 Johan den Dunnen
+/. 6 c.626G>A r.(?) p.(Arg209His) Unknown ACMG pathogenic (recessive) g.18660173C>T g.18642053C>T - - RS1_000009 ACMG PS4, PM1, PM2, PP3, PP4, PM5 PubMed: Bender 2022 - - Germline - - - - - DNA SEQ - - RS1 Var92.2 PubMed: Bender 2022 proband M - - - - - - - 1 Johan den Dunnen
+/. 6 c.626G>A r.(?) p.(Arg209His) Unknown ACMG pathogenic (recessive) g.18660173C>T g.18642053C>T 628delA - RS1_000009 ACMG PS4, PM1, PM2, PP3, PP4, PM5 PubMed: Bender 2022 - - Germline - - - - - DNA SEQ - - RS1 Var92.3 PubMed: Bender 2022 proband M - - - - - - - 1 Johan den Dunnen
+/. 6 c.626G>A r.(?) p.(Arg209His) Unknown ACMG pathogenic (recessive) g.18660173C>T g.18642053C>T - - RS1_000009 ACMG PS4, PM1, PM2, PP3, PP4, PM5 PubMed: Bender 2022 - - Germline - - - - - DNA SEQ - - RS1 Var92.4 PubMed: Bender 2022 proband M - - - - - - - 1 Johan den Dunnen
+/. - c.626G>A r.(?) p.(Arg209His) Maternal (confirmed) - pathogenic (recessive) g.18660173C>T g.18642053C>T - - RS1_000009 - PubMed: Gao 2021 - - Germline - - - - - DNA SEQ - - RS1 Fam20 PubMed: Gao 2021 family, unaffected carrier mother M - China - - - - - 1 Johan den Dunnen
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