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.

31 entries on 1 page. Showing entries 1 - 31.
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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     
+/. 4 c.325G>C r.(?) p.(Gly109Arg) Maternal (inferred) - pathogenic g.18665312C>G g.18647192C>G - - RS1_000006 - PubMed: Sauer 1997 - - Germline - - - - - DNA SSCA - - RS1 - PubMed: Sauer 1997 - ? - Germany - - - - - 1 Johan den Dunnen
+/. 4 c.325G>C r.(?) p.(Gly109Arg) Maternal (inferred) - pathogenic g.18665312C>G g.18647192C>G - - RS1_000006 - PubMed: Huopaniemi 1999 - - Germline - - - - - DNA SSCA - - RS1 - PubMed: Huopaniemi 1999 19% of Finnish RS mutations M - Finland - - - - - 1 Johan den Dunnen
+/. 4 c.325G>C r.(?) p.(Gly109Arg) Maternal (inferred) - pathogenic g.18665312C>G g.18647192C>G - - RS1_000006 - PubMed: RS-consortium 1998, group 4 - - Germline - - - - - DNA SSCA - - RS1 - PubMed: RS-consortium 1998, group 4 - ? - Finland - - - - - 1 Johan den Dunnen
+/. 4 c.325G>C r.(?) p.(Gly109Arg) Maternal (inferred) - pathogenic g.18665312C>G g.18647192C>G - - RS1_000006 - PubMed: RS-consortium 1998, group 2 - - Germline - - - - - DNA SSCA - - RS1 - PubMed: RS-consortium 1998, group 2 - ? - France - - - - - 1 Johan den Dunnen
+/. 4 c.325G>C r.(?) p.(Gly109Arg) Maternal (inferred) - pathogenic g.18665312C>G g.18647192C>G - - RS1_000006 - PubMed: RS-consortium 1998, group 6 - - Germline - - - - - DNA SEQ - - RS1 - PubMed: RS-consortium 1998, group 6 - ? - United Kingdom (Great Britain) - - - - - 1 Dorothy Trump
+/. 4 c.325G>C r.(?) p.(Gly109Arg) Maternal (inferred) - pathogenic g.18665312C>G g.18647192C>G - - RS1_000006 - PubMed: RS-consortium 1998; group 6, PubMed: Pimenides 2005 - - Germline - - - - - DNA SEQ - - RS1 - PubMed: RS-consortium 1998; group 6, PubMed: Pimenides 2005 several patients M - United Kingdom (Great Britain) - - - - - 1 Dorothy Trump
+/. 4 c.325G>C r.(?) p.(Gly109Arg) Maternal (inferred) - pathogenic g.18665312C>G g.18647192C>G - - RS1_000006 - PubMed: RS-consortium 1998, group 6 - - Germline - - - - - DNA SEQ - - RS1 - PubMed: RS-consortium 1998, group 6 - ? - United Kingdom (Great Britain) - - - - - 1 Dorothy Trump
+/. 4 c.325G>C r.(?) p.(Gly109Arg) Maternal (inferred) - pathogenic g.18665312C>G g.18647192C>G - - RS1_000006 - - - - Germline - - - - - DNA SEQ - - RS1 - - - ? - United Kingdom (Great Britain) - - - - - 1 Dorothy Trump
+/. 4 c.325G>C r.(?) p.(Gly109Arg) Maternal (inferred) - pathogenic g.18665312C>G g.18647192C>G - - RS1_000006 - - - - Germline - - - - - DNA SEQ - - RS1 - - - ? - United Kingdom (Great Britain) - - - - - 1 Dorothy Trump
+/. 4 c.325G>C r.(?) p.(Gly109Arg) Maternal (inferred) - pathogenic g.18665312C>G g.18647192C>G - - RS1_000006 - PubMed: RS-consortium 1998, group 3 - - Germline - - - - - DNA SEQ - - RS1 - PubMed: RS-consortium 1998, group 3 - ? - United States - - - - - 1 Johan den Dunnen
+/. 4 c.325G>C r.(?) p.(Gly109Arg) Parent #1 - NA g.18665312C>G g.18647192C>G - - RS1_000006 expression construct in pcDNA3.1, COS-7 cell expression PubMed: Wang 2002 - - In vitro (cloned) - - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Rien Blok
+/. 4 c.325G>C r.(?) p.(Gly109Arg) Unknown - pathogenic g.18665312C>G g.18647192C>G - - RS1_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. 4 c.325G>C r.(?) p.(Gly109Arg) Unknown - VUS g.18665312C>G - c.325G>C - RS1_000006 - PubMed: Avela 2019 - - Germline - - - - - DNA SEQ-NG blood - retinal disease - PubMed: Avela 2019 5 patients in 5 families - - Finland Finnish - - - - 1 LOVD
+?/. - c.325G>C r.(?) p.(Gly109Arg) Maternal (inferred) - likely pathogenic g.18665312C>G g.18647192C>G G109R - RS1_000006 predicted severe, no RS1 secretion; variant extrapolated from protein change PubMed: Sergeev 2013 - - Unknown ? - - - - DNA SEQ blood - retinal disease 3 PubMed: Sergeev 2013 2 patients, ID ascribed consecutively (no ID in the paper) M - (United Kingdom (Great Britain)) - - - - - 2 LOVD
+?/. - c.325G>C r.(?) p.(Gly109Arg) Maternal (inferred) - likely pathogenic g.18665312C>G g.18647192C>G RS1 c.325G>C, p.(G109R) - RS1_000006 - PubMed: Fahim 2017 - - Unknown ? - - - - DNA ? - retrospective study retinal disease 29 PubMed: Fahim 2017 no patient numbers in paper, consecutive numbers given M - - - - - - - 1 LOVD
+?/. 4 c.325G>C r.(?) p.(Gly109Arg) Maternal (inferred) - likely pathogenic g.18665312C>G g.18647192C>G RS1 c.325G>C, p.(Gly109Arg) - RS1_000006 - PubMed: Ores 2018 - - Unknown ? - - - - DNA SEQ blood retrospective study retinal disease CIC00650 PubMed: Ores 2018 Family F442, patient CIC00650 M - France - - - - - 1 LOVD
+?/. 4 c.325G>C r.(?) p.(Gly109Arg) Maternal (inferred) - likely pathogenic g.18665312C>G g.18647192C>G RS1 c.325G>C, p.(Gly109Arg) - RS1_000006 - PubMed: Ores 2018 - - Unknown ? - - - - DNA SEQ blood retrospective study retinal disease CIC04991 PubMed: Ores 2018 Family F442, patient CIC04991 M - France - - - - - 1 LOVD
+?/. 4 c.325G>C r.(?) p.(Gly109Arg) Maternal (inferred) - likely pathogenic g.18665312C>G g.18647192C>G RS1 c.325G>C, p.(Gly109Arg) - RS1_000006 - PubMed: Ores 2018 - - Unknown ? - - - - DNA SEQ blood retrospective study retinal disease CIC04991 PubMed: Ores 2018 Family F442, patient CIC04991 M - France - - - - - 1 LOVD
+?/. - c.325G>C r.(?) p.(Gly109Arg) Maternal (inferred) - likely pathogenic g.18665312C>G g.18647192C>G p.325G>C, p.Gly109Arg - RS1_000006 error in annotation ""p."" instead of ""c"" PubMed: Pennesi 2018 - - Unknown ? - - - - DNA ? - - retinal disease CEI-011 PubMed: Pennesi 2018 - M - United States - - - - - 1 LOVD
+?/. - c.325G>C r.(?) p.(Gly109Arg) Maternal (inferred) - likely pathogenic g.18665312C>G g.18647192C>G p.325G>C, p.Gly109Arg - RS1_000006 error in annotation ""p."" instead of ""c"" PubMed: Pennesi 2018 - - Unknown ? - - - - DNA ? - - retinal disease KEC-015 PubMed: Pennesi 2018 - M - United States - - - - - 1 LOVD
+?/. - c.325G>C r.(?) p.(Gly109Arg) Maternal (inferred) - likely pathogenic g.18665312C>G g.18647192C>G RS1 c.325G>C , p.(Gly109Arg) - RS1_000006 hemizygous PubMed: Avela 2019 - - Germline yes - - - - DNA SEQ-NG, SEQ - targeted gene analysis or a next-generation sequencing-based gene panel retinal disease Family 47 PubMed: Avela 2019 47-51 (5 patients in 5 families) ? - Finland - - - - - 1 LOVD
+?/. - c.325G>C r.(?) p.(Gly109Arg) Maternal (inferred) - likely pathogenic g.18665312C>G g.18647192C>G RS1 c.325G>C , p.(Gly109Arg) - RS1_000006 hemizygous PubMed: Avela 2019 - - Germline yes - - - - DNA SEQ-NG, SEQ - targeted gene analysis or a next-generation sequencing-based gene panel retinal disease Family 48 PubMed: Avela 2019 47-51 (5 patients in 5 families) ? - Finland - - - - - 1 LOVD
+?/. - c.325G>C r.(?) p.(Gly109Arg) Maternal (inferred) - likely pathogenic g.18665312C>G g.18647192C>G RS1 c.325G>C , p.(Gly109Arg) - RS1_000006 hemizygous PubMed: Avela 2019 - - Germline yes - - - - DNA SEQ-NG, SEQ - targeted gene analysis or a next-generation sequencing-based gene panel retinal disease Family 49 PubMed: Avela 2019 47-51 (5 patients in 5 families) ? - Finland - - - - - 1 LOVD
+?/. - c.325G>C r.(?) p.(Gly109Arg) Maternal (inferred) - likely pathogenic g.18665312C>G g.18647192C>G RS1 c.325G>C , p.(Gly109Arg) - RS1_000006 hemizygous PubMed: Avela 2019 - - Germline yes - - - - DNA SEQ-NG, SEQ - targeted gene analysis or a next-generation sequencing-based gene panel retinal disease Family 50 PubMed: Avela 2019 47-51 (5 patients in 5 families) ? - Finland - - - - - 1 LOVD
+?/. - c.325G>C r.(?) p.(Gly109Arg) Maternal (inferred) - likely pathogenic g.18665312C>G g.18647192C>G RS1 c.325G>C , p.(Gly109Arg) - RS1_000006 hemizygous PubMed: Avela 2019 - - Germline yes - - - - DNA SEQ-NG, SEQ - targeted gene analysis or a next-generation sequencing-based gene panel retinal disease Family 51 PubMed: Avela 2019 47-51 (5 patients in 5 families) ? - Finland - - - - - 1 LOVD
+/. 4 c.325G>C r.(?) p.(Gly109Arg) Unknown - pathogenic (recessive) g.18665312C>G g.18647192C>G - - RS1_000006 - PubMed: Hahn 2022 - - Germline - - - - - DNA SEQ - - RS1 Var32 PubMed: Hahn 2022 patient M - (Belgium);(Netherlands) - - - - - 1 Johan den Dunnen
+/. 4 c.325G>C r.(?) p.(Gly109Arg) Unknown - pathogenic (recessive) g.18665312C>G g.18647192C>G - - RS1_000006 ACMG PS1, PM1, PM2, PM5, PP1, PP2, PP3, PP4, PP5 PubMed: Georgiou 2022 - rs104894934 Germline - - - - - DNA SEQ - - RS1 - PubMed: Georgiou 2022 patient M - United Kingdom (Great Britain) - - - - - 1 Johan den Dunnen
+/. 4 c.325G>C r.(?) p.(Gly109Arg) Unknown ACMG pathogenic (recessive) g.18665312C>G g.18647192C>G - - RS1_000006 ACMG PS4, PM2), PM1, PS3>M, PP3, PP4 PubMed: Bender 2022 - - Germline - - - - - DNA SEQ - - RS1 Var44.1 PubMed: Bender 2022 proband M - - - - - - - 1 Johan den Dunnen
+/. 4 c.325G>C r.(?) p.(Gly109Arg) Unknown ACMG pathogenic (recessive) g.18665312C>G g.18647192C>G - - RS1_000006 ACMG PS4, PM2), PM1, PS3>M, PP3, PP4 PubMed: Bender 2022 - - Germline - - - - - DNA SEQ - - RS1 Var44.2 PubMed: Bender 2022 proband M - - - - - - - 1 Johan den Dunnen
+/. 4 c.325G>C r.(?) p.(Gly109Arg) Unknown ACMG pathogenic (recessive) g.18665312C>G g.18647192C>G - - RS1_000006 ACMG PS4, PM2), PM1, PS3>M, PP3, PP4 PubMed: Bender 2022 - - Germline - - - - - DNA SEQ - - RS1 Var44.3 PubMed: Bender 2022 proband M - - - - - - - 1 Johan den Dunnen
+/. 4 c.325G>C r.(?) p.(Gly109Arg) Unknown ACMG pathogenic (recessive) g.18665312C>G g.18647192C>G - - RS1_000006 ACMG PS4, PM2), PM1, PS3>M, PP3, PP4 PubMed: Bender 2022 - - Germline - - - - - DNA SEQ - - RS1 Var44.4 PubMed: Bender 2022 proband M - - - - - - - 1 Johan den Dunnen
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