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.

54 entries on 1 page. Showing entries 1 - 54.
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     
?/. 6 c.574C>T r.(?) p.(Pro192Ser) Unknown - VUS g.18660225G>A g.18642105G>A - - RS1_000007 - - - rs61753174 Germline - - - - - DNA SEQ - - - - - - ? - - - - - - - 1 Johan den Dunnen
+/. 6 c.574C>T r.(?) p.(Pro192Ser) Maternal (inferred) - pathogenic g.18660225G>A g.18642105G>A - - RS1_000007 - PubMed: Sauer 1997 - - Germline - - +AvaII, -HaeIII - - DNA SSCA - - RS1 - PubMed: Sauer 1997 - ? - Germany - - - - - 1 Johan den Dunnen
+/. 6 c.574C>T r.(?) p.(Pro192Ser) Maternal (inferred) - pathogenic g.18660225G>A g.18642105G>A - - RS1_000007 - PubMed: Inoue 2000 - - Germline - - +AvaII, -HaeIII - - DNA SEQ - - RS1 - PubMed: Inoue 2000 - ? - Japan - - - - - 1 Johan den Dunnen
+/. 6 c.574C>T r.(?) p.(Pro192Ser) Maternal (inferred) - pathogenic g.18660225G>A g.18642105G>A - - RS1_000007 - PubMed: RS-consortium 1998, group 4 - - Germline - - +AvaII, -HaeIII - - DNA SSCA - - RS1 - PubMed: RS-consortium 1998, group 4 - ? - United Kingdom (Great Britain) Scotland - - - - 1 Johan den Dunnen
+/. 6 c.574C>T r.(?) p.(Pro192Ser) Maternal (inferred) - pathogenic g.18660225G>A g.18642105G>A - - RS1_000007 - PubMed: Hiriyanna 1999, PubMed: Eksandh 2000 - - Germline - - +AvaII, -HaeIII - - DNA SEQ - - RS1 - PubMed: Hiriyanna 1999, PubMed: Eksandh 2000 2 affecteds M - Sweden - - - - - 2 Johan den Dunnen
+/. 6 c.574C>T r.(?) p.(Pro192Ser) Maternal (inferred) - pathogenic g.18660225G>A g.18642105G>A - - RS1_000007 - PubMed: RS-consortium 1998, group 3 - - Germline - - +AvaII, -HaeIII - - DNA SSCA - - RS1 - PubMed: RS-consortium 1998, group 3 - ? - Sweden - - - - - 1 Johan den Dunnen
+/. 6 c.574C>T r.(?) p.(Pro192Ser) Maternal (inferred) - pathogenic g.18660225G>A g.18642105G>A - - RS1_000007 - PubMed: RS-consortium 1998; group 6, PubMed: Pimenides 2005 - - Germline - - +AvaII, -HaeIII - - DNA SEQ - - RS1 - PubMed: RS-consortium 1998; group 6, PubMed: Pimenides 2005 several patients M - United Kingdom (Great Britain) - - - - - 1 Dorothy Trump
+/. 6 c.574C>T r.(?) p.(Pro192Ser) Maternal (inferred) - pathogenic g.18660225G>A g.18642105G>A - - RS1_000007 - PubMed: RS-consortium 1998, group 6 - - Germline - - +AvaII, -HaeIII - - DNA SEQ - - RS1 - PubMed: RS-consortium 1998, group 6 - ? - United Kingdom (Great Britain) - - - - - 1 Dorothy Trump
+/. 6 c.574C>T r.(?) p.(Pro192Ser) Maternal (inferred) - pathogenic g.18660225G>A g.18642105G>A - - RS1_000007 - PubMed: RS-consortium 1998, group 6 - - Germline - - +AvaII, -HaeIII - - DNA SEQ - - RS1 - PubMed: RS-consortium 1998, group 6 - ? - United Kingdom (Great Britain) - - - - - 1 Dorothy Trump
+/. 6 c.574C>T r.(?) p.(Pro192Ser) Maternal (inferred) - pathogenic g.18660225G>A g.18642105G>A - - RS1_000007 - PubMed: RS-consortium 1998, group 6 - - Germline - - +AvaII, -HaeIII - - DNA SEQ - - RS1 - PubMed: RS-consortium 1998, group 6 - ? - United Kingdom (Great Britain) - - - - - 1 Dorothy Trump
+/. 6 c.574C>T r.(?) p.(Pro192Ser) Maternal (inferred) - pathogenic g.18660225G>A g.18642105G>A - - RS1_000007 - PubMed: RS-consortium 1998, group 6 - - Germline - - +AvaII, -HaeIII - - DNA SEQ - - RS1 - PubMed: RS-consortium 1998, group 6 - ? - United Kingdom (Great Britain) - - - - - 1 Dorothy Trump
+/. 6 c.574C>T r.(?) p.(Pro192Ser) Maternal (inferred) - pathogenic g.18660225G>A g.18642105G>A - - RS1_000007 - PubMed: RS-consortium 1998, group 6 - - Germline - - +AvaII, -HaeIII - - DNA SEQ - - RS1 - PubMed: RS-consortium 1998, group 6 - ? - United Kingdom (Great Britain) - - - - - 1 Dorothy Trump
+/. 6 c.574C>T r.(?) p.(Pro192Ser) Maternal (inferred) - pathogenic g.18660225G>A g.18642105G>A - - RS1_000007 - PubMed: RS-consortium 1998, group 3 - - Germline - - +AvaII, -HaeIII - - DNA SEQ - - RS1 - PubMed: RS-consortium 1998, group 3 - ? - United States - - - - - 1 Johan den Dunnen
+/. 6 c.574C>T r.(?) p.(Pro192Ser) Maternal (confirmed) - pathogenic g.18660225G>A g.18642105G>A - - RS1_000007 - PubMed: Lesch 2008 - - Germline - - +AvaII, HaeIII - - DNA SEQ - - RS1 Fam4 PubMed: Lesch 2008 2-generation family, carrier mother/sister M - Hungary - - - - - 1 Viktoria Szabo
+/. 6 c.574C>T r.(?) p.(Pro192Ser) Maternal (confirmed) - pathogenic g.18660225G>A g.18642105G>A - - RS1_000007 - PubMed: Lesch 2008 - - Germline - - +AvaII, -HaeIII - - DNA SEQ - - RS1 Fam8 PubMed: Lesch 2008 2-generation family, 1 affected, unaffected carrier mother M - Hungary - - - - - 1 Viktoria Szabo
+/. 6 c.574C>T r.(?) p.(Pro192Ser) Maternal (inferred) - pathogenic g.18660225G>A g.18642105G>A - - RS1_000007 not in 100 controls PubMed: Suganthalakshmi 2007 - - Germline - - +AvaII, -HaeIII - - DNA SEQ - - RS1 - PubMed: Suganthalakshmi 2007 - M - India - - - - - 1 Johan den Dunnen
+/. 6 c.574C>T r.(?) p.(Pro192Ser) Maternal (inferred) - pathogenic g.18660225G>A g.18642105G>A - - RS1_000007 - PubMed: Renner 2008 - - Germline - - - - - DNA SEQ - - RS1 - PubMed: Renner 2008 - M - Germany - - - - - 1 Johan den Dunnen
+/. 6 c.574C>T r.(?) p.(Pro192Ser) Maternal (inferred) - pathogenic g.18660225G>A g.18642105G>A - - RS1_000007 - PubMed: Renner 2008 - - Germline - - - - - DNA SEQ - - RS1 - PubMed: Renner 2008 - M - Germany - - - - - 1 Johan den Dunnen
+?/. 6 c.574C>T r.(?) p.(Pro192Ser) Maternal (inferred) - likely pathogenic g.18660225G>A g.18642105G>A RS1 c.574C>T, p.Pro192Ser - RS1_000007 - PubMed: Vijayasarathy 2010 - - Unknown ? - - - - DNA SEQ blood - retinal disease 10 PubMed: Vijayasarathy 2010 - M - (United States) - - - - - 1 LOVD
+?/. - c.574C>T r.(?) p.(Pro192Ser) Maternal (inferred) - likely pathogenic g.18660225G>A g.18642105G>A RS1 c.574C>T, p.(Pro192Ser) - RS1_000007 - PubMed: Fahim 2017 - - Unknown ? - - - - DNA ? - retrospective study retinal disease 45 PubMed: Fahim 2017 no patient numbers in paper, consecutive numbers given M - - - - - - - 1 LOVD
+?/. - c.574C>T r.(?) p.(Pro192Ser) Maternal (inferred) - likely pathogenic g.18660225G>A g.18642105G>A RS1 c.574C>T, p.(Pro192Ser) - RS1_000007 - PubMed: Fahim 2017 - - Unknown ? - - - - DNA ? - retrospective study retinal disease 46 PubMed: Fahim 2017 no patient numbers in paper, consecutive numbers given M - - - - - - - 1 LOVD
+?/. - c.574C>T r.(?) p.(Pro192Ser) Maternal (inferred) - likely pathogenic g.18660225G>A g.18642105G>A RS1 c.574C>T, p.(Pro192Ser) - RS1_000007 - PubMed: Fahim 2017 - - Unknown ? - - - - DNA ? - retrospective study retinal disease 47 PubMed: Fahim 2017 no patient numbers in paper, consecutive numbers given M - - - - - - - 1 LOVD
+?/. - c.574C>T r.(?) p.(Pro192Ser) Maternal (inferred) - likely pathogenic g.18660225G>A g.18642105G>A RS1 c.574C>T, p.(Pro192Ser) - RS1_000007 - PubMed: Fahim 2017 - - Unknown ? - - - - DNA ? - retrospective study retinal disease 48 PubMed: Fahim 2017 no patient numbers in paper, consecutive numbers given M - - - - - - - 1 LOVD
+?/. - c.574C>T r.(?) p.(Pro192Ser) Maternal (inferred) - likely pathogenic g.18660225G>A g.18642105G>A RS1 c.574C>T, p.(Pro192Ser) - RS1_000007 - PubMed: Fahim 2017 - - Unknown ? - - - - DNA ? - retrospective study retinal disease 49 PubMed: Fahim 2017 no patient numbers in paper, consecutive numbers given M - - - - - - - 1 LOVD
+?/. - c.574C>T r.(?) p.(Pro192Ser) Maternal (inferred) - likely pathogenic g.18660225G>A g.18642105G>A c.574C>T, p.Pro192Ser - RS1_000007 - PubMed: Pennesi 2018 - - Unknown ? - - - - DNA ? - - retinal disease RFS-306 PubMed: Pennesi 2018 - M - United States - - - - - 1 LOVD
+?/. - c.574C>T r.(?) p.(Pro192Ser) Maternal (inferred) - likely pathogenic g.18660225G>A g.18642105G>A c.574C>T, p.Pro192Ser - RS1_000007 - PubMed: Pennesi 2018 - - Unknown ? - - - - DNA ? - - retinal disease RFS-315� PubMed: Pennesi 2018 - M - United States - - - - - 1 LOVD
+?/. - c.574C>T r.(?) p.(Pro192Ser) Maternal (inferred) - likely pathogenic g.18660225G>A g.18642105G>A c.574C>T, p.Pro192Ser - RS1_000007 - PubMed: Pennesi 2018 - - Unknown ? - - - - DNA ? - - retinal disease RFS-320 PubMed: Pennesi 2018 - M - United States - - - - - 1 LOVD
+?/. - c.574C>T r.(?) p.(Pro192Ser) Maternal (inferred) - likely pathogenic g.18660225G>A g.18642105G>A c.574C>T, p.Pro192Ser - RS1_000007 - PubMed: Pennesi 2018 - - Unknown ? - - - - DNA ? - - retinal disease RFS-322� PubMed: Pennesi 2018 - M - United States - - - - - 1 LOVD
+?/. 6 c.574C>T r.(?) p.(Pro192Ser) Maternal (inferred) - likely pathogenic g.18660225G>A g.18642105G>A RS1 c.574C>T, p.Pro192Ser - RS1_000007 - PubMed: Kondo 2019 - rs61753174 Unknown ? - - - - DNA SEQ blood - retinal disease KIN PubMed: Kondo 2019 Family 42, patient KIN, proband M - Japan - - - - - 1 LOVD
?/. - c.574C>T r.(?) p.(Pro192Ser) Maternal (inferred) ACMG pathogenic (recessive) g.18660225G>A g.18642105G>A P192S - RS1_000007 - PubMed: Sergeev 2013 - - Germline - - - - - DNA SEQ - - retinal disease - PubMed: Sergeev 2013 4 patients (no ID in the paper) M - United Kingdom (Great Britain) - - - - - 4 Johan den Dunnen
+/. - c.574C>T r.(?) p.(Pro192Ser) Maternal (inferred) - pathogenic (recessive) g.18660225G>A g.18642105G>A P192S - RS1_000007 - PubMed: Sergeev 2013 - - Germline - - - - - DNA SEQ - - retinal disease - PubMed: Sergeev 2013 4 patients (no ID in the paper) M - United Kingdom (Great Britain) - - - - - 4 Johan den Dunnen
+/. 6 c.574C>T r.(?) p.(Pro192Ser) Unknown - pathogenic (recessive) g.18660225G>A g.18642105G>A - - RS1_000007 - PubMed: Lee 2025 - - Germline - - - - - DNA SEQ - - RS1 Pat26A PubMed: Lee 2025 patient M - Korea - - - - - 1 Johan den Dunnen
+/. 6 c.574C>T r.(?) p.(Pro192Ser) Unknown - pathogenic (recessive) g.18660225G>A g.18642105G>A - - RS1_000007 - PubMed: Lee 2025 - - Germline - - - - - DNA SEQ - - RS1 Pat26B PubMed: Lee 2025 patient M - Korea - - - - - 1 Johan den Dunnen
+/. - c.574C>T r.(?) p.(Pro192Ser) Unknown ACMG pathogenic (recessive) g.18660225G>A g.18642105G>A - - RS1_000007 - PubMed: Wey 2023 - - Germline - - - - - DNA SEQ - - RS1 - PubMed: Wey 2023 patient M - (Belgium);(Netherlands) - - - - - 1 Johan den Dunnen
+/. - c.574C>T r.(?) p.(Pro192Ser) Unknown - pathogenic (recessive) g.18660225G>A g.18642105G>A - - RS1_000007 - PubMed: Kousal 2021 ClinVar-000098990.4 - Germline - - - - - DNA SEQ - - RS1 Fam12PatII1 PubMed: Kousal 2021 2-generation family, 1 affected M - Czech Republic - - - - - 1 Johan den Dunnen
+/. 6 c.574C>T r.(?) p.(Pro192Ser) Unknown - pathogenic (recessive) g.18660225G>A g.18642105G>A - - RS1_000007 ACMG PS1, PM1, PM2, PM5, PP1, PP2, PP3, PP4, PP5 PubMed: Georgiou 2022 - rs61753174 Germline - - - - - DNA SEQ - - RS1 - PubMed: Georgiou 2022 family, 1 affected M - United Kingdom (Great Britain) - - - - - 1 Johan den Dunnen
+/. 6 c.574C>T r.(?) p.(Pro192Ser) Unknown - pathogenic (recessive) g.18660225G>A g.18642105G>A - - RS1_000007 ACMG PS1, PM1, PM2, PM5, PP1, PP2, PP3, PP4, PP5 PubMed: Georgiou 2022 - rs61753174 Germline - - - - - DNA SEQ - - RS1 - PubMed: Georgiou 2022 family, 1 affected M - United Kingdom (Great Britain) - - - - - 1 Johan den Dunnen
+/. 6 c.574C>T r.(?) p.(Pro192Ser) Unknown - pathogenic (recessive) g.18660225G>A g.18642105G>A - - RS1_000007 ACMG PS1, PM1, PM2, PM5, PP1, PP2, PP3, PP4, PP5 PubMed: Georgiou 2022 - rs61753174 Germline - - - - - DNA SEQ - - RS1 - PubMed: Georgiou 2022 family, 1 affected M - United Kingdom (Great Britain) - - - - - 1 Johan den Dunnen
+/. 6 c.574C>T r.(?) p.(Pro192Ser) Unknown - pathogenic (recessive) g.18660225G>A g.18642105G>A - - RS1_000007 ACMG PS1, PM1, PM2, PM5, PP1, PP2, PP3, PP4, PP5 PubMed: Georgiou 2022 - rs61753174 Germline - - - - - DNA SEQ - - RS1 - PubMed: Georgiou 2022 family, 1 affected M - United Kingdom (Great Britain) - - - - - 1 Johan den Dunnen
+/. 6 c.574C>T r.(?) p.(Pro192Ser) Unknown - pathogenic (recessive) g.18660225G>A g.18642105G>A - - RS1_000007 ACMG PS1, PM1, PM2, PM5, PP1, PP2, PP3, PP4, PP5 PubMed: Georgiou 2022 - rs61753174 Germline - - - - - DNA SEQ - - RS1 - PubMed: Georgiou 2022 family, 1 affected M - United Kingdom (Great Britain) - - - - - 1 Johan den Dunnen
+/. 6 c.574C>T r.(?) p.(Pro192Ser) Unknown - pathogenic (recessive) g.18660225G>A g.18642105G>A - - RS1_000007 ACMG PS1, PM1, PM2, PM5, PP1, PP2, PP3, PP4, PP5 PubMed: Georgiou 2022 - rs61753174 Germline - - - - - DNA SEQ - - RS1 - PubMed: Georgiou 2022 family, 1 affected M - United Kingdom (Great Britain) - - - - - 1 Johan den Dunnen
+/. 6 c.574C>T r.(?) p.(Pro192Ser) Unknown - pathogenic (recessive) g.18660225G>A g.18642105G>A - - RS1_000007 ACMG PS1, PM1, PM2, PM5, PP1, PP2, PP3, PP4, PP5 PubMed: Georgiou 2022 - rs61753174 Germline - - - - - DNA SEQ - - RS1 - PubMed: Georgiou 2022 family, 1 affected M - United Kingdom (Great Britain) - - - - - 1 Johan den Dunnen
+/. 6 c.574C>T r.(?) p.(Pro192Ser) Unknown - pathogenic (recessive) g.18660225G>A g.18642105G>A - - RS1_000007 ACMG PS1, PM1, PM2, PM5, PP1, PP2, PP3, PP4, PP5 PubMed: Georgiou 2022 - rs61753174 Germline - - - - - DNA SEQ - - RS1 - PubMed: Georgiou 2022 family, 1 affected M - United Kingdom (Great Britain) - - - - - 1 Johan den Dunnen
+/. 6 c.574C>T r.(?) p.(Pro192Ser) Unknown ACMG pathogenic (recessive) g.18660225G>A g.18642105G>A - - RS1_000007 ACMG PS4, PP1>S, PM2, PS3>M, PP3, PP4, PM1 PubMed: Bender 2022 - - Germline - - - - - DNA SEQ - - RS1 Var78.1 PubMed: Bender 2022 proband M - - - - - - - 1 Johan den Dunnen
+/. 6 c.574C>T r.(?) p.(Pro192Ser) Unknown ACMG pathogenic (recessive) g.18660225G>A g.18642105G>A - - RS1_000007 ACMG PS4, PP1>S, PM2, PS3>M, PP3, PP4, PM1 PubMed: Bender 2022 - - Germline - - - - - DNA SEQ - - RS1 Var78.2 PubMed: Bender 2022 proband M - - - - - - - 1 Johan den Dunnen
+/. 6 c.574C>T r.(?) p.(Pro192Ser) Unknown ACMG pathogenic (recessive) g.18660225G>A g.18642105G>A - - RS1_000007 ACMG PS4, PP1>S, PM2, PS3>M, PP3, PP4, PM1 PubMed: Bender 2022 - - Germline - - - - - DNA SEQ - - RS1 Var78.3 PubMed: Bender 2022 proband M - - - - - - - 1 Johan den Dunnen
+/. 6 c.574C>T r.(?) p.(Pro192Ser) Unknown ACMG pathogenic (recessive) g.18660225G>A g.18642105G>A - - RS1_000007 ACMG PS4, PP1>S, PM2, PS3>M, PP3, PP4, PM1 PubMed: Bender 2022 - - Germline - - - - - DNA SEQ - - RS1 Var78.4 PubMed: Bender 2022 proband M - - - - - - - 1 Johan den Dunnen
+/. 6 c.574C>T r.(?) p.(Pro192Ser) Unknown ACMG pathogenic (recessive) g.18660225G>A g.18642105G>A - - RS1_000007 ACMG PS4, PP1>S, PM2, PS3>M, PP3, PP4, PM1 PubMed: Bender 2022 - - Germline - - - - - DNA SEQ - - RS1 Var78.5 PubMed: Bender 2022 proband M - - - - - - - 1 Johan den Dunnen
+/. 6 c.574C>T r.(?) p.(Pro192Ser) Unknown ACMG pathogenic (recessive) g.18660225G>A g.18642105G>A - - RS1_000007 ACMG PS4, PP1>S, PM2, PS3>M, PP3, PP4, PM1 PubMed: Bender 2022 - - Germline - - - - - DNA SEQ - - RS1 Var78.6 PubMed: Bender 2022 proband M - - - - - - - 1 Johan den Dunnen
+/. 6 c.574C>T r.(?) p.(Pro192Ser) Unknown ACMG pathogenic (recessive) g.18660225G>A g.18642105G>A - - RS1_000007 ACMG PS4, PP1>S, PM2, PS3>M, PP3, PP4, PM1 PubMed: Bender 2022 - - Germline - - - - - DNA SEQ - - RS1 Var78.7 PubMed: Bender 2022 proband M - - - - - - - 1 Johan den Dunnen
+/. 6 c.574C>T r.(?) p.(Pro192Ser) Unknown ACMG pathogenic (recessive) g.18660225G>A g.18642105G>A - - RS1_000007 ACMG PS4, PP1>S, PM2, PS3>M, PP3, PP4, PM1 PubMed: Bender 2022 - - Germline - - - - - DNA SEQ - - RS1 Var78.8 PubMed: Bender 2022 proband M - - - - - - - 1 Johan den Dunnen
+/. 6 c.574C>T r.(?) p.(Pro192Ser) Unknown ACMG pathogenic (recessive) g.18660225G>A g.18642105G>A - - RS1_000007 ACMG PS4, PP1>S, PM2, PS3>M, PP3, PP4, PM1 PubMed: Bender 2022 - - Germline - - - - - DNA SEQ - - RS1 Var78.9 PubMed: Bender 2022 proband M - - - - - - - 1 Johan den Dunnen
+/. 6 c.574C>T r.(?) p.(Pro192Ser) Unknown ACMG pathogenic (recessive) g.18660225G>A g.18642105G>A - - RS1_000007 ACMG PS4, PP1>S, PM2, PS3>M, PP3, PP4, PM1 PubMed: Bender 2022 - - Germline - - - - - DNA SEQ - - RS1 Var78.10 PubMed: Bender 2022 proband M - - - - - - - 1 Johan den Dunnen
+/. - c.574C>T - p.Pro192Ser Unknown - NA g.18660225G>A g.18642105G>A Pro192Ser - RS1_000007 in vitro analysis COS-7 cells produced intracellularly retained misfolded RS1 (appeared as dimers or larger aggregates, no secretion PubMed: Vijayasarathy 2010 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
Legend   How to query  


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