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.

30 entries on 1 page. Showing entries 1 - 30.
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     
+?/. _1_1i c.(?_-35)_(52+1_53-1)del r.0? p.0? Maternal (inferred) - likely pathogenic g.(18675786_18690136)_(18690223_?)del g.(18657666_18672016)_(18672103_?)del Exon 1 deletion - RS1_000010 - PubMed: Sergeev 2013 - - Unknown ? - - - - DNA SEQ blood - retinal disease 13 PubMed: Sergeev 2013 patient ID ascribed consecutively (no ID in the paper) M - (United Kingdom (Great Britain)) - - - - - 1 LOVD
+?/. _1_1i c.(?_-35)_(52+1_53-1)del r.0? p.0? Maternal (inferred) - likely pathogenic g.(18675786_18690136)_(18690223_?)del g.(18657666_18672016)_(18672103_?)del Exon 1 deletion - RS1_000010 - PubMed: Sergeev 2013 - - Unknown ? - - - - DNA SEQ blood - retinal disease 15 PubMed: Sergeev 2013 patient ID ascribed consecutively (no ID in the paper) M - (United Kingdom (Great Britain)) - - - - - 1 LOVD
+?/. _1_1i c.(?_-35)_(52+1_53-1)del r.0? p.0? Maternal (inferred) - likely pathogenic g.(18675786_18690136)_(18690223_?)del g.(18657666_18672016)_(18672103_?)del Exon 1 deletion - RS1_000010 - PubMed: Sergeev 2013 - - Unknown ? - - - - DNA SEQ blood - retinal disease 19 PubMed: Sergeev 2013 patient ID ascribed consecutively (no ID in the paper) M - (United Kingdom (Great Britain)) - - - - - 1 LOVD
+?/. _1_1i c.(?_-35)_(52+1_53-1)del r.0? p.0? Maternal (inferred) - likely pathogenic g.(18675786_18690136)_(18690223_?)del g.(18657666_18672016)_(18672103_?)del Exon 1 deletion - RS1_000010 - PubMed: Sergeev 2013 - - Unknown ? - - - - DNA SEQ blood - retinal disease 20 PubMed: Sergeev 2013 patient ID ascribed consecutively (no ID in the paper) M - (United Kingdom (Great Britain)) - - - - - 1 LOVD
+?/. _1_1i c.(?_-35)_(52+1_53-1)del r.0? p.0? Maternal (inferred) - likely pathogenic g.(18675786_18690136)_(18690223_?)del g.(18657666_18672016)_(18672103_?)del Exon 1 deletion - RS1_000010 - PubMed: Sergeev 2013 - - Unknown ? - - - - DNA SEQ blood - retinal disease 23 PubMed: Sergeev 2013 patient ID ascribed consecutively (no ID in the paper) M - (United Kingdom (Great Britain)) - - - - - 1 LOVD
+?/. _1_1i c.(?_-35)_(52+1_53-1)del r.0? p.0? Maternal (inferred) - likely pathogenic g.(18675786_18690136)_(18690223_?)del g.(18657666_18672016)_(18672103_?)del exon 1 deletion - RS1_000010 - PubMed: Pennesi 2018 - - Unknown ? - - - - DNA ? - - retinal disease CEI-017 PubMed: Pennesi 2018 - M - United States - - - - - 1 LOVD
+?/. _1_1i c.(?_-35)_(52+1_53-1)del r.0? p.0? Maternal (inferred) - likely pathogenic g.(18675786_18690136)_(18690223_?)del g.(18657666_18672016)_(18672103_?)del exon 1 deletion - RS1_000010 - PubMed: Pennesi 2018 - - Unknown ? - - - - DNA ? - - retinal disease KEC-016 PubMed: Pennesi 2018 - M - United States - - - - - 1 LOVD
+?/. _1_1i c.(?_-35)_(52+1_53-1)del r.0? p.0? Maternal (inferred) - likely pathogenic g.(18675786_18690136)_(18690223_?)del g.(18657666_18672016)_(18672103_?)del exon 1 deletion - RS1_000010 - PubMed: Pennesi 2018 - - Unknown ? - - - - DNA ? - - retinal disease RFS-324 PubMed: Pennesi 2018 - M - United States - - - - - 1 LOVD
+/. _1_1i c.(?_-35)_(52+1_53-1)del r.0? p.0? Unknown - pathogenic (recessive) g.(18675786_18690136)_(18690223_?)del g.(18657666_18672016)_(18672103_?)del (?_1-1)_(52+1_53-1)del - RS1_000010 - PubMed: Georgiou 2022 - - Germline - - - - - DNA SEQ - - RS1 - PubMed: Georgiou 2022 family, 1 affected M - United Kingdom (Great Britain) - - - - - 1 Johan den Dunnen
+/. _1_1i c.(?_-35)_(52+1_53-1)del r.0? p.0? Unknown - pathogenic (recessive) g.(18675786_18690136)_(18690223_?)del g.(18657666_18672016)_(18672103_?)del (?_1-1)_(52+1_53-1)del - RS1_000010 - PubMed: Georgiou 2022 - - Germline - - - - - DNA SEQ - - RS1 - PubMed: Georgiou 2022 family, 1 affected M - United Kingdom (Great Britain) - - - - - 1 Johan den Dunnen
+/. _1_1i c.(?_-35)_(52+1_53-1)del r.0? p.0? Unknown - pathogenic (recessive) g.(18675786_18690136)_(18690223_?)del g.(18657666_18672016)_(18672103_?)del (?_1-1)_(52+1_53-1)del - RS1_000010 - PubMed: Georgiou 2022 - - Germline - - - - - DNA SEQ - - RS1 - PubMed: Georgiou 2022 family, 1 affected M - United Kingdom (Great Britain) - - - - - 1 Johan den Dunnen
+/. _1_1i c.(?_-35)_(52+1_53-1)del r.0? p.0? Unknown - pathogenic (recessive) g.(18675786_18690136)_(18690223_?)del g.(18657666_18672016)_(18672103_?)del (?_1-1)_(52+1_53-1)del - RS1_000010 - PubMed: Georgiou 2022 - - Germline - - - - - DNA SEQ - - RS1 - PubMed: Georgiou 2022 family, 1 affected M - United Kingdom (Great Britain) - - - - - 1 Johan den Dunnen
+/. _1_1i c.(?_-35)_(52+1_53-1)del r.0? p.? Unknown ACMG pathogenic (recessive) g.(18675786_18690136)_(18690223_?)del g.(18657666_18672016)_(18672103_?)del del ex1, (1-?_52+?)del - RS1_000010 ACMG PVS1, PS4, PM2, PP4 PubMed: Bender 2022 - - Germline - - - - - DNA SEQ - - RS1 Var106.1 PubMed: Bender 2022 proband M - - - - - - - 1 Johan den Dunnen
+/. _1_1i c.(?_-35)_(52+1_53-1)del r.0? p.? Unknown ACMG pathogenic (recessive) g.(18675786_18690136)_(18690223_?)del g.(18657666_18672016)_(18672103_?)del del ex4-5, (185-?_522+?)del - RS1_000010 ACMG PVS1, PS4, PM2, PP4 PubMed: Bender 2022 - - Germline - - - - - DNA SEQ - - RS1 Var106.2 PubMed: Bender 2022 proband M - - - - - - - 1 Johan den Dunnen
+/. _1_1i c.(?_-35)_(52+1_53-1)del r.0? p.? Unknown ACMG pathogenic (recessive) g.(18675786_18690136)_(18690223_?)del g.(18657666_18672016)_(18672103_?)del del ex1-4, (1-?_326+?)del - RS1_000010 ACMG PVS1, PS4, PM2, PP4 PubMed: Bender 2022 - - Germline - - - - - DNA SEQ - - RS1 Var106.3 PubMed: Bender 2022 proband M - - - - - - - 1 Johan den Dunnen
+/. _1_1i c.(?_-35)_(52+1_53-1)del r.0? p.? Unknown ACMG pathogenic (recessive) g.(18675786_18690136)_(18690223_?)del g.(18657666_18672016)_(18672103_?)del [35T>A;52+5G>C] - RS1_000010 ACMG PVS1, PS4, PM2, PP4 PubMed: Bender 2022 - - Germline - - - - - DNA SEQ - - RS1 Var106.4 PubMed: Bender 2022 proband M - - - - - - - 1 Johan den Dunnen
+/. _1_1i c.(?_-35)_(52+1_53-1)del r.0? p.0? Maternal (inferred) - pathogenic g.(18675786_18690136)_(18690223_?)del g.(18657666_18672016)_(18672103_?)del - - RS1_000010 deletion upto 1 kb 5' ATG PubMed: Hiriyanna 1999, PubMed: Eksandh 2000, PubMed: Eksandh 2005 - - Germline - - - - - DNA PCR - - RS1 - PubMed: Hiriyanna 1999, PubMed: Eksandh 2000, PubMed: Eksandh 2005 14 affecteds M - Sweden - - - - - 14 Johan den Dunnen
+/. _1_1i c.(?_-35)_(52+1_53-1)del r.0? p.0? Maternal (inferred) - pathogenic g.(18675786_18690136)_(18690223_?)del g.(18657666_18672016)_(18672103_?)del - - RS1_000010 - PubMed: RS-consortium 1998, group 4 - - Germline - - - - - DNA Southern - - RS1 - PubMed: RS-consortium 1998, group 4 - ? - Denmark - - - - - 1 Johan den Dunnen
+/. _1_1i c.(?_-35)_(52+1_53-1)del r.0? p.0? Maternal (inferred) - pathogenic g.(18675786_18690136)_(18690223_?)del g.(18657666_18672016)_(18672103_?)del - - RS1_000010 - PubMed: RS-consortium 1998, group 4 - - Germline - - - - - DNA Southern - - RS1 - PubMed: RS-consortium 1998, group 4 - ? - Denmark - - - - - 1 Johan den Dunnen
+/. _1_1i c.(?_-35)_(52+1_53-1)del r.0? p.0? Maternal (inferred) - pathogenic g.(18675786_18690136)_(18690223_?)del g.(18657666_18672016)_(18672103_?)del - - RS1_000010 - PubMed: RS-consortium 1998, group 4 - - Germline - - - - - DNA Southern - - RS1 - PubMed: RS-consortium 1998, group 4 - ? - Denmark - - - - - 1 Johan den Dunnen
+/. _1_1i c.(?_-35)_(52+1_53-1)del r.0? p.0? Maternal (inferred) - pathogenic g.(18675786_18690136)_(18690223_?)del g.(18657666_18672016)_(18672103_?)del del ex1 - RS1_000010 - PubMed: Mashima 1999, PubMed: Shinoda 2000 - - Germline - - - - - DNA SSCA - - RS1 ?;Pat2 PubMed: Mashima 1999, PubMed: Shinoda 2000 - M - Japan - - - - - 1 Johan den Dunnen
+/. _1_1i c.(?_-35)_(52+1_53-1)del r.0? p.0? Maternal (inferred) - pathogenic g.(18675786_18690136)_(18690223_?)del g.(18657666_18672016)_(18672103_?)del del ex1 - RS1_000010 - PubMed: Shinoda 2000 - - Germline - - - - - DNA SSCA - - RS1 Pat1 PubMed: Shinoda 2000 - M - Japan - - - - - 1 Johan den Dunnen
+/. _1_1i c.(?_-35)_(52+1_53-1)del r.0? p.0? Maternal (inferred) - pathogenic g.(18675786_18690136)_(18690223_?)del g.(18657666_18672016)_(18672103_?)del - - RS1_000010 - - - - Germline - - - - - DNA SEQ - - RS1 - - - ? - United Kingdom (Great Britain) - - - - - 1 Dorothy Trump
+/. _1_1i c.(?_-35)_(52+1_53-1)del r.0? p.0? Maternal (inferred) - pathogenic g.(18675786_18690136)_(18690223_?)del g.(18657666_18672016)_(18672103_?)del - - RS1_000010 - PubMed: RS-consortium 1998, group 4 - - Germline - - - - - DNA Southern - - RS1 - PubMed: RS-consortium 1998, group 4 - ? - Denmark - - - - - 1 Johan den Dunnen
+?/. _1_1i c.(?_-35)_(52+1_53-1)del r.0? p.0? Unknown - likely pathogenic g.(18675786_18690136)_(18690223_?)del g.(18657666_18672016)_(18672103_?)del del ex1 - RS1_000010 - PubMed: Chen 2014 - - Germline yes - - - - DNA SEQ blood - retinal disease 113040 PubMed: Chen 2014 - M - China - - - - - 1 LOVD
+?/. _1_1i c.(?_-35)_(52+1_53-1)del r.0? p.0? Maternal (inferred) - likely pathogenic g.(18675786_18690136)_(18690223_?)del g.(18657666_18672016)_(18672103_?)del del ex1 - RS1_000010 - PubMed: Fahim 2017 - - Germline/De novo (untested) - - - - - DNA ? - retrospective study retinal disease 1 PubMed: Fahim 2017 no patient numbers in paper, consecutive numbers given M - - - - - - - 1 LOVD
+?/. _1_1i c.(?_-35)_(52+1_53-1)del r.0? p.0? Maternal (inferred) - likely pathogenic g.(18675786_18690136)_(18690223_?)del g.(18657666_18672016)_(18672103_?)del RS1 exon1 deletion - RS1_000010 - PubMed: Avela 2019 - - Germline yes - - - - DNA SEQ-NG, SEQ, MLPA - targeted gene analysis or a next-generation sequencing-based gene panel retinal disease 53 PubMed: Avela 2019 - ? - Finland - - - - - 1 LOVD
+/. _1_1i c.(?_-35)_(52+1_53-1)del r.0? p.0? Maternal (inferred) - pathogenic g.(18675786_18690136)_(18690223_?)del g.(18657666_18672016)_(18672103_?)del - - RS1_000010 deletion upto 1 kb 5' ATG PubMed: Chan 2004 - - Germline - - - - - DNA SEQ - - RS1 - PubMed: Chan 2004 - M - China - - - - - 1 Johan den Dunnen
+/. _1_1i c.(?_-35)_(52+1_53-1)del r.0? p.0? Maternal (inferred) - pathogenic g.(18675786_18690136)_(18690223_?)del g.(18657666_18672016)_(18672103_?)del - - RS1_000010 - PubMed: Tsang 2007 - - Germline - - - - - DNA SEQ - - RS1 - PubMed: Tsang 2007 - M - United States - - - - - 1 Johan den Dunnen
+/. _1_1i c.(?_-35)_(52+1_53-1)del r.0? p.0? Maternal (inferred) - pathogenic g.(18675786_18690136)_(18690223_?)del g.(18657666_18672016)_(18672103_?)del - - RS1_000010 - PubMed: Renner 2008 - - Germline - - - - - DNA SEQ - - RS1 - PubMed: Renner 2008 - M - Germany - - - - - 1 Johan den Dunnen
Legend   How to query  


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