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.

15 entries on 1 page. Showing entries 1 - 15.
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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     
?/. 1 c.35T>A r.(?) p.(Leu12His) Maternal (inferred) - VUS g.18690154A>T g.18672034A>T - - RS1_000016 - PubMed: RS-consortium 1998, group 3 - - Germline - - - - - DNA SEQ - - RS1 - PubMed: RS-consortium 1998, group 3 - ? - United States - - - - - 1 Johan den Dunnen
+/. 1 c.35T>A r.(?) p.(Leu12His) Maternal (inferred) - pathogenic g.18690154A>T g.18672034A>T - - RS1_000016 - - - - Germline - - - - - DNA SEQ - - RS1 - - - ? - United Kingdom (Great Britain) - - - - - 1 Dorothy Trump
+/. 1 c.35T>A r.(?) p.(Leu12His) Parent #1 - NA g.18690154A>T g.18672034A>T - - RS1_000016 expression construct in pcDNA3.1, COS-7 cell expression PubMed: Wang 2002 - - In vitro (cloned) - - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Ans M.W. van den Ouweland
+?/. 1 c.35T>A r.(?) p.(Leu12His) Maternal (inferred) - likely pathogenic g.18690154A>T g.18672034A>T RS1 c.35T>A, p.Leu12His - RS1_000016 - PubMed: Vijayasarathy 2010 - - Unknown ? - - - - DNA SEQ blood - retinal disease 2 PubMed: Vijayasarathy 2010 - M - (United States) - - - - - 1 LOVD
+?/. - c.35T>A r.(?) p.(Leu12His) Maternal (inferred) - likely pathogenic g.18690154A>T g.18672034A>T RS1 c.35T>A, p.(Leu12His) - RS1_000016 - PubMed: Fahim 2017 - - Unknown ? - - - - DNA ? - retrospective study retinal disease 2 PubMed: Fahim 2017 no patient numbers in paper, consecutive numbers given M - - - - - - - 1 LOVD
+?/. - c.35T>A r.(?) p.(Leu12His) Maternal (inferred) - likely pathogenic g.18690154A>T g.18672034A>T RS1 c.35T>A, p.(Leu12His) - RS1_000016 - PubMed: Fahim 2017 - - Unknown ? - - - - DNA ? - retrospective study retinal disease 3 PubMed: Fahim 2017 no patient numbers in paper, consecutive numbers given M - - - - - - - 1 LOVD
+?/. 1 c.35T>A r.(?) p.(Leu12His) Maternal (confirmed) - likely pathogenic (recessive) g.18690154A>T g.18672034A>T [35T>A;52+5G>C] - RS1_000016 ACMG PM1, PM2, PP2, PP3, PP4, PP5 PubMed: Georgiou 2022 - rs62645879 Germline - - - - - DNA SEQ - - RS1 - PubMed: Georgiou 2022 family, 1 affected M - United Kingdom (Great Britain) - - - - - 1 Johan den Dunnen
+?/. 1 c.35T>A r.(?) p.(Leu12His) Maternal (confirmed) - likely pathogenic (recessive) g.18690154A>T g.18672034A>T [35T>A;52+5G>C] - RS1_000016 ACMG PM1, PM2, PP2, PP3, PP4, PP5 PubMed: Georgiou 2022 - rs62645879 Germline - - - - - DNA SEQ - - RS1 - PubMed: Georgiou 2022 family, 1 affected M - United Kingdom (Great Britain) - - - - - 1 Johan den Dunnen
+?/. 1 c.35T>A r.(?) p.(Leu12His) Maternal (confirmed) - likely pathogenic (recessive) g.18690154A>T g.18672034A>T [35T>A;52+5G>C] - RS1_000016 ACMG PM1, PM2, PP2, PP3, PP4, PP5 PubMed: Georgiou 2022 - rs62645879 Germline - - - - - DNA SEQ - - RS1 - PubMed: Georgiou 2022 family, 1 affected M - United Kingdom (Great Britain) - - - - - 1 Johan den Dunnen
+?/. 1 c.35T>A r.(?) p.(Leu12His) Unknown - likely pathogenic (recessive) g.18690154A>T g.18672034A>T - - RS1_000016 ACMG PM1, PM2, PP2, PP3, PP4, PP5 PubMed: Georgiou 2022 - rs62645879 Germline - - - - - DNA SEQ - - RS1 - PubMed: Georgiou 2022 family, 1 affected M - United Kingdom (Great Britain) - - - - - 1 Johan den Dunnen
+?/. 1 c.35T>A r.(?) p.(Leu12His) Unknown - likely pathogenic (recessive) g.18690154A>T g.18672034A>T - - RS1_000016 ACMG PM1, PM2, PP2, PP3, PP4, PP5 PubMed: Georgiou 2022 - rs62645879 Germline - - - - - DNA SEQ - - RS1 - PubMed: Georgiou 2022 family, 1 affected M - United Kingdom (Great Britain) - - - - - 1 Johan den Dunnen
+?/. 1 c.35T>A r.(?) p.(Leu12His) Unknown - likely pathogenic (recessive) g.18690154A>T g.18672034A>T - - RS1_000016 ACMG PM1, PM2, PP2, PP3, PP4, PP5 PubMed: Georgiou 2022 - rs62645879 Germline - - - - - DNA SEQ - - RS1 - PubMed: Georgiou 2022 family, 1 affected M - United Kingdom (Great Britain) - - - - - 1 Johan den Dunnen
+/. 1 c.35T>A r.(?) p.(Leu12His) Parent #1 ACMG pathogenic (recessive) g.18690154A>T g.18672034A>T [35T>A;52+5G>C] - RS1_000016 ACMG PS4, PM2, PS3>M, PP3, PP4 PubMed: Bender 2022 - - Germline - - - - - DNA SEQ - - RS1 Var2.1 PubMed: Bender 2022 proband M - - - - - - - 1 Johan den Dunnen
+/. 1 c.35T>A r.(?) p.(Leu12His) Parent #1 ACMG pathogenic (recessive) g.18690154A>T g.18672034A>T - - RS1_000016 ACMG PS4, PM2, PS3>M, PP3, PP4 PubMed: Bender 2022 - - Germline - - - - - DNA SEQ - - RS1 Var2.2 PubMed: Bender 2022 proband M - - - - - - - 1 Johan den Dunnen
+/. - c.35T>A - p.Leu12His Unknown - NA g.18690154A>T g.18672034A>T Leu12His - RS1_000016 in vitro analysis COS-7 cells shows no RS1 in cellular/secreted fractions, no cleavage signal peptide PubMed: Vijayasarathy 2010 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
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