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.

39 entries on 1 page. Showing entries 1 - 39.
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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.579dup r.(?) p.(Ile194Hisfs*70) Maternal (inferred) - pathogenic g.18660225dup g.18642105dup - - RS1_000070 - PubMed: RS-consortium 1998, group 2 - - Germline - - -BbvI - - DNA SSCA - - RS1 - PubMed: RS-consortium 1998, group 2 - ? - Austria - - - - - 1 Johan den Dunnen
+/. 6 c.579dup r.(?) p.(Ile194Hisfs*70) Maternal (inferred) - pathogenic g.18660225dup g.18642105dup - - RS1_000070 - PubMed: Gehrig 1999 - - Germline - - -BbvI - - DNA SSCA - - RS1 - PubMed: Gehrig 1999 - ? - Austria - - - - - 1 Johan den Dunnen
+/. 6 c.579dup r.(?) p.(Ile194Hisfs*70) Maternal (inferred) - pathogenic g.18660225dup g.18642105dup - - RS1_000070 - PubMed: Pimenides 2005 - - Germline - - -BbvI - - DNA SEQ - - RS1 - PubMed: Pimenides 2005 - M - United Kingdom (Great Britain) - - - - - 1 Dorothy Trump
+/. 6 c.579dup r.(?) p.(Ile194Hisfs*70) Maternal (inferred) - pathogenic g.18660225dup g.18642105dup - - RS1_000070 - PubMed: RS-consortium 1998; group 6, PubMed: Pimenides 2005 - - Germline - - -BbvI - - DNA SEQ - - RS1 - PubMed: RS-consortium 1998; group 6, PubMed: Pimenides 2005 several patients M - United Kingdom (Great Britain) - - - - - 1 Dorothy Trump
+/. 6 c.579dup r.(?) p.(Ile194Hisfs*70) Maternal (inferred) - pathogenic g.18660225dup g.18642105dup - - RS1_000070 - PubMed: RS-consortium 1998, group 3 - - Germline - - -BbvI - - DNA SEQ - - RS1 - PubMed: RS-consortium 1998, group 3 - ? - United States - - - - - 1 Johan den Dunnen
+/. 6 c.579dup r.(?) p.(Ile194Hisfs*70) Maternal (inferred) - pathogenic g.18660225dup g.18642105dup - - RS1_000070 - PubMed: Tsang 2007 - - Germline - - -BbvI - - DNA SEQ - - RS1 - PubMed: Tsang 2007 - M - United States - - - - - 1 Johan den Dunnen
+/. 6 c.579dup r.(?) p.(Ile194Hisfs*70) Both (homozygous) - pathogenic g.18660225dup g.18642105dup 588-593incC - RS1_000070 - PubMed: Ali 2003, PubMed: Saleheen 2008 - - Germline - - - - - DNA SEQ - - RS1 ?;FamPatIV2/3/4/5 PubMed: Ali 2003, PubMed: Saleheen 2008 4 affected females F yes Pakistan - - - - - 4 Johan den Dunnen
+/. 6 c.579dup r.(?) p.(Ile194Hisfs*70) Maternal (confirmed) - pathogenic g.18660225dup g.18642105dup 578_579insC - RS1_000070 - PubMed: Riveiro 2005, PubMed: Riveiro-Alvarez 2009;Riveiro-Alvarez ESHG2008 P05.213 - - Germline - - -BbvI - - DNA SEQ - - RS1 - PubMed: Riveiro 2005, PubMed: Riveiro-Alvarez 2009;Riveiro-Alvarez ESHG2008 P05.213 3-generation family, 3 affecteds, 2 carriers M - Spain - - - - - 5 Johan den Dunnen
+/. 6 c.579dup r.(?) p.(Ile194Hisfs*70) Maternal (confirmed) - pathogenic g.18660225dup g.18642105dup 578_579insC - RS1_000070 - PubMed: Riveiro 2005, PubMed: Riveiro-Alvarez 2009;Riveiro-Alvarez ESHG2008 P05.213 - - Germline - - -BbvI - - DNA SEQ - - RS1 - PubMed: Riveiro 2005, PubMed: Riveiro-Alvarez 2009;Riveiro-Alvarez ESHG2008 P05.213 carrier mother/sister, 3 affected brothers M - Spain - - - - - 5 Johan den Dunnen
+/. 6 c.579dup r.(?) p.(Ile194Hisfs*70) Maternal (confirmed) - pathogenic g.18660225dup g.18642105dup 578_579insC - RS1_000070 - PubMed: Riveiro 2005, PubMed: Riveiro-Alvarez 2009;Riveiro-Alvarez ESHG2008 P05.213 - - Germline - - -BbvI - - DNA SEQ - - RS1 - PubMed: Riveiro 2005, PubMed: Riveiro-Alvarez 2009;Riveiro-Alvarez ESHG2008 P05.213 3-generation family, 2 affecteds, 3 carriers M - Spain - - - - - 5 Johan den Dunnen
+/. 6 c.579dup r.(?) p.(Ile194Hisfs*70) Maternal (confirmed) - pathogenic g.18660225dup g.18642105dup 588-593incC - RS1_000070 - PubMed: Ali 2003, PubMed: Saleheen 2008 - - Germline - - - - - DNA SEQ - - RS1 ?;family PubMed: Ali 2003, PubMed: Saleheen 2008 4-generation family, 5 affected males, 4, affected females, 6 unaffected carriers F;M yes Pakistan - - - - - 9 Johan den Dunnen
+/. 6 c.579dup r.(?) p.(Ile194Hisfs*70) Maternal (confirmed) - pathogenic g.18660225dup g.18642105dup - - RS1_000070 - PubMed: Lesch 2008 - - Germline - - - - - DNA SEQ - - RS1 Fam11 PubMed: Lesch 2008 3-generation family, 1 affected, 3 carriers M - Hungary - - - - - 1 Johan den Dunnen
+?/. 6 c.579dup r.(?) p.(Ile194Hisfs*70) Parent #1 - likely pathogenic g.18660225dup g.18642105dup c.579dupC - RS1_000070 - 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
?/. 6 c.579dup r.(?) p.(Ile194Hisfs*70) Maternal (inferred) - VUS g.18660225dup g.18642105dup RS1 nucleotide 1, protein 1:c.579dupC, p.Ile194Hisfsext51 - RS1_000070 error in annotation: c.579dup causes p.(Ile194Hisfs*70) and not p.(Ile194Hisfsext51), hemizygous, 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 11 PubMed: Hull 2020 - - - New Zealand white - - - - 1 LOVD
+?/. - c.579dup r.(?) p.(Ile194HisfsTer70) Unknown - likely pathogenic g.18660225dup g.18642105dup c.579dupC; p.Ile194Hisfs - RS1_000070 - PubMed: Duncan 2011 - - Unknown ? - - - - DNA SEQ blood - retinal disease 2 PubMed: Duncan 2011 - ? - United States - - - - - 1 LOVD
+?/. - c.579dup r.(?) p.(Ile194Hisfs*70) Maternal (inferred) - likely pathogenic g.18660225dup g.18642105dup Insertion c.579insC - RS1_000070 error in annotation, variant c.579insC is c.579dupC and causes p.(Ile194Hisfs*70) and not p.(His194fs*263) PubMed: Sergeev 2013 - - Unknown ? - - - - DNA SEQ blood - retinal disease 17 PubMed: Sergeev 2013 patient ID ascribed consecutively (no ID in the paper) M - (United Kingdom (Great Britain)) - - - - - 1 LOVD
+?/. - c.579dup r.(?) p.(Ile194Hisfs*70) Maternal (inferred) - likely pathogenic g.18660225dup g.18642105dup Duplication 579dupC - RS1_000070 error in annotation, variant c.579insC is c.579dupC and causes p.(Ile194Hisfs*70) and not p.(His194fs*263) PubMed: Sergeev 2013 - - Unknown ? - - - - DNA SEQ blood - retinal disease 21 PubMed: Sergeev 2013 patient ID ascribed consecutively (no ID in the paper) M - (United Kingdom (Great Britain)) - - - - - 1 LOVD
+?/. 6 c.579dup r.(?) p.(Ile194Hisfs*70) Maternal (inferred) - likely pathogenic g.18660225dup g.18642105dup X6, 579insC - RS1_000070 - PubMed: Khan 2001 - - Unknown ? - - - - DNA SEQ blood - retinal disease 108 PubMed: Khan 2001 - M - (United States) - - - - - 1 LOVD
+?/. - c.579dup r.(?) p.(Ile194Hisfs*70) Maternal (inferred) - likely pathogenic g.18660225dup g.18642105dup RS1 c.579dupC, p.(Ile194fs) - RS1_000070 - PubMed: Fahim 2017 - - Unknown ? - - - - DNA ? - retrospective study retinal disease 51 PubMed: Fahim 2017 no patient numbers in paper, consecutive numbers given M - - - - - - - 1 LOVD
+?/. - c.579dup r.(?) p.(Ile194Hisfs*70) Maternal (inferred) - likely pathogenic g.18660225dup g.18642105dup RS1 c.579dupC, p.(Ile194fs) - RS1_000070 - PubMed: Fahim 2017 - - Unknown ? - - - - DNA ? - retrospective study retinal disease 52 PubMed: Fahim 2017 no patient numbers in paper, consecutive numbers given M - - - - - - - 1 LOVD
+?/. - c.579dup r.(?) p.(Ile194Hisfs*70) Maternal (inferred) - likely pathogenic g.18660225dup g.18642105dup RS1 c.579dupC, p.(Ile194fs) - RS1_000070 - PubMed: Fahim 2017 - - Unknown ? - - - - DNA ? - retrospective study retinal disease 53 PubMed: Fahim 2017 no patient numbers in paper, consecutive numbers given M - - - - - - - 1 LOVD
+?/. - c.579dup r.(?) p.(Ile194Hisfs*70) Maternal (inferred) - likely pathogenic g.18660225dup g.18642105dup 579DupC, p.Ile194His - RS1_000070 error in annotation both in cDNA (no ""c."" and protein change should be p.Ile194Hisfs*70 and not p.Ile194His PubMed: Pennesi 2018 - - Unknown ? - - - - DNA ? - - retinal disease CEI-010 PubMed: Pennesi 2018 - M - United States - - - - - 1 LOVD
+/. 6 c.579dup r.(?) p.(Ile194HisfsTer70) Maternal (confirmed) - pathogenic g.18660225dup g.18642105dup c.578_579incC;p.HisfsX264 - RS1_000070 c.578_579insC automapped to NM_000330.4:c.579dupC PubMed: Christodoulou 2019 - - Germline yes - - - - DNA SEQ-NG - - - - PubMed: Almomani 2011 - - - - - - - - - 1 Global Variome, with Curator vacancy
+/. 6 c.579dup r.(?) p.(Ile194Hisfs*70) Maternal (inferred) ACMG pathogenic g.18660225dup g.18642105dup RS1 c.579_580insC , p.X225Lext 38 - RS1_000070 error in annotation: c.579_580insC automapped to c.579dup and causes p.Ile194Hisfs*70 and not p.*225Leuext 38; number of alleles does not match number of patients (91 vs 90) PubMed: Chen 2020 - - Unknown ? 1/90 - - - DNA SEQ, SEQ-NG blood Sanger-DNA sequencing of RS1 and targeted next-generation sequencing retinal disease 63 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.579dup r.(?) p.(Ile194Hisfs*70) Unknown - pathogenic g.18660225dup - - - RS1_000070 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.579dup r.(?) p.(Ile194HisfsTer70) Unknown ACMG pathogenic (recessive) g.18660225dup g.18642105dup 579dupC - RS1_000070 ACMG PVS1, PP5, PM2, PM3 PubMed: D'Anna Mardero 2024 - - Germline/De novo (untested) - - - - - DNA SEQ - - RS1 Pat3 PubMed: D'Anna Mardero 2024 patient, no family history M - Spain Europe - - - - 1 Johan den Dunnen
+/. - c.579dup r.(?) p.(Ile194HisfsTer70) Unknown ACMG pathogenic (recessive) g.18660225dup g.18642105dup (I194H ) - RS1_000070 - PubMed: Wey 2023 - - Germline - - - - - DNA SEQ - - RS1 - PubMed: Wey 2023 patient M - United States - - - - - 1 Johan den Dunnen
+/. - c.579dup r.(?) p.(Ile194HisfsTer70) Unknown ACMG pathogenic (recessive) g.18660225dup g.18642105dup (I194H ) - RS1_000070 - PubMed: Wey 2023 - - Germline - - - - - DNA SEQ - - RS1 - PubMed: Wey 2023 patient M - United States - - - - - 1 Johan den Dunnen
+/. 6 c.579dup r.(?) p.(Ile194HisfsTer70) Unknown - pathogenic (recessive) g.18660225dup g.18642105dup - - RS1_000070 - PubMed: Fortunato 2023 - rs199469697 Germline - - - - - DNA SEQ - - RS1 Fam3Pat5 PubMed: Fortunato 2023 patient M - Italy - - - - - 1 Johan den Dunnen
+/. 6 c.579dup r.(?) p.(Ile194HisfsTer70) Unknown - pathogenic (recessive) g.18660225dup g.18642105dup - - RS1_000070 - PubMed: Fortunato 2023 - rs199469697 Germline - - - - - DNA SEQ - - RS1 Fam17Pat22 PubMed: Fortunato 2023 patient M - Italy - - - - - 1 Johan den Dunnen
+/. 6 c.579dup r.(?) p.(Ile194HisfsTer70) Unknown - pathogenic (recessive) g.18660225dup g.18642105dup - - RS1_000070 ACMG PVS1, PM2, PP1, PP3, PP4, PP5 PubMed: Georgiou 2022 - rs199469697 Germline - - - - - DNA SEQ - - RS1 - PubMed: Georgiou 2022 family, 1 affected M - United Kingdom (Great Britain) - - - - - 1 Johan den Dunnen
+/. 6 c.579dup r.(?) p.(Ile194HisfsTer70) Unknown - pathogenic (recessive) g.18660225dup g.18642105dup - - RS1_000070 ACMG PVS1, PM2, PP1, PP3, PP4, PP5 PubMed: Georgiou 2022 - rs199469697 Germline - - - - - DNA SEQ - - RS1 - PubMed: Georgiou 2022 family, 1 affected M - United Kingdom (Great Britain) - - - - - 1 Johan den Dunnen
+/. 6 c.579dup r.(?) p.(Ile194HisfsTer70) Unknown - pathogenic (recessive) g.18660225dup g.18642105dup - - RS1_000070 ACMG PVS1, PM2, PP1, PP3, PP4, PP5 PubMed: Georgiou 2022 - rs199469697 Germline - - - - - DNA SEQ - - RS1 - PubMed: Georgiou 2022 family, 1 affected M - United Kingdom (Great Britain) - - - - - 1 Johan den Dunnen
+/. 6 c.579dup r.(?) p.(Ile194HisfsTer70) Unknown - pathogenic (recessive) g.18660225dup g.18642105dup - - RS1_000070 ACMG PVS1, PM2, PP1, PP3, PP4, PP5 PubMed: Georgiou 2022 - rs199469697 Germline - - - - - DNA SEQ - - RS1 - PubMed: Georgiou 2022 family, 1 affected M - United Kingdom (Great Britain) - - - - - 1 Johan den Dunnen
+/. 6 c.579dup r.(?) p.(Ile194Hisfs*70) Maternal (confirmed) - pathogenic (recessive) g.18660225dup g.18642105dup 579dupC - RS1_000070 - PubMed: Lesch 2008 - - Germline yes - - - - DNA SEQ - - RS1 Fam6 PMID:Lesch 2008:19093009} 3-generation family, 2 affected, 3 unaffected carrier females M - Hungary - - - - - 1 Johan den Dunnen
+/. 6 c.579dup r.(?) p.(Ile194HisfsTer70) Unknown ACMG pathogenic (recessive) g.18660225dup g.18642105dup - - RS1_000070 ACMG PVS1, PS4, PM2, PP4, PM1 PubMed: Bender 2022 - - Germline - - - - - DNA SEQ - - RS1 Var82.1 PubMed: Bender 2022 proband M - - - - - - - 1 Johan den Dunnen
+/. 6 c.579dup r.(?) p.(Ile194HisfsTer70) Unknown ACMG pathogenic (recessive) g.18660225dup g.18642105dup - - RS1_000070 ACMG PVS1, PS4, PM2, PP4, PM1 PubMed: Bender 2022 - - Germline - - - - - DNA SEQ - - RS1 Var82.2 PubMed: Bender 2022 proband M - - - - - - - 1 Johan den Dunnen
+/. 6 c.579dup r.(?) p.(Ile194HisfsTer70) Unknown ACMG pathogenic (recessive) g.18660225dup g.18642105dup - - RS1_000070 ACMG PVS1, PS4, PM2, PP4, PM1 PubMed: Bender 2022 - - Germline - - - - - DNA SEQ - - RS1 Var82.3 PubMed: Bender 2022 proband M - - - - - - - 1 Johan den Dunnen
+/. - c.579dup r.(579dup) p.(Ile194Hisfs*70) Maternal (confirmed) - pathogenic (recessive) g.18660225dup g.18642105dup Pro192 ins1 cggC - RS1_000070 - PubMed: Pradhan 2009 - - Germline - - - - - DNA SEQ - - RD Pat1 PubMed: Pradhan 2009 2-generation family, 1 affected, unaffected carrier mother M - New Zealand - - - - - 1 Johan den Dunnen
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