Full data view for gene RGR

This database is one of the "Eye disease" gene variant databases.
Information The variants shown are described using the NM_002921.3 transcript reference sequence.

14 entries on 1 page. Showing entries 1 - 14.
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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     
+/. - c.836dup r.(?) p.(Ile280Asnfs*78) Parent #1 - pathogenic (dominant) g.86018343dup g.84258587dup NM_001012720.1:c.824dup (I276N*77) - RGR_000024 - PubMed: Wang 2017 - - Germline - - - - - DNA SEQ, SEQ-NG - 184-gene panel retinal disease RD2–01 PubMed: Wang 2017 - - - United States - - - - - 1 LOVD
+/. - c.836dup r.(?) p.(Ile280Asnfs*78) Unknown - pathogenic g.86018343dup g.84258587dup RGR c.836dupG, p.Ile280AsnfsTer78 - RGR_000024 heterozygous PubMed: Turro 2020 - - Germline/De novo (untested) ? - - - - DNA SEQ-NG-I blood whole genome sequencing retinal disease G001408 PubMed: Turro 2020 only individuals with mutations in retinal disease genes from this publication were inserted into LOVD ? - (United Kingdom (Great Britain)) - - - - - 1 LOVD
+?/. - c.836dup r.(?) p.(Ile280Asnfs*78) Unknown - likely pathogenic (dominant) g.86018343dup g.84258587dup RGR c.836dupG; p.Ile280Asn*78 - RGR_000024 heterozygous PubMed: Ba-Abbad 2018 - - Germline yes - - - - DNA SEQ-NG blood - retinal disease WVU: III-6 PubMed: Ba-Abbad 2018 Family WVU, individual III-6 F - - - - - - - 1 LOVD
+?/. - c.836dup r.(?) p.(Ile280Asnfs*78) Unknown - likely pathogenic (dominant) g.86018343dup g.84258587dup RGR c.836dupG; p.Ile280Asn*78 - RGR_000024 heterozygous PubMed: Ba-Abbad 2018 - - Germline yes - - - - DNA SEQ-NG blood - retinal disease WVU: III-8 PubMed: Ba-Abbad 2018 Family WVU, individual III-8 M - - - - - - - 1 LOVD
+?/. - c.836dup r.(?) p.(Ile280Asnfs*78) Maternal (confirmed) - likely pathogenic (dominant) g.86018343dup g.84258587dup RGR c.836dupG; p.Ile280Asn*78 - RGR_000024 heterozygous PubMed: Ba-Abbad 2018 - - Germline yes - - - - DNA SEQ-NG blood - retinal disease WVU: IV-2 PubMed: Ba-Abbad 2018 Family WVU, individual IV-2 F - - - - - - - 1 LOVD
+?/. - c.836dup r.(?) p.(Ile280Asnfs*78) Paternal (confirmed) - likely pathogenic (dominant) g.86018343dup g.84258587dup RGR c.836dupG; p.Ile280Asn*78 - RGR_000024 heterozygous PubMed: Ba-Abbad 2018 - - Germline yes - - - - DNA SEQ-NG blood - retinal disease WVU: IV-5 PubMed: Ba-Abbad 2018 Family WVU, individual IV-5 M - - - - - - - 1 LOVD
+?/. - c.836dup r.(?) p.(Ile280Asnfs*78) Paternal (confirmed) - likely pathogenic (dominant) g.86018343dup g.84258587dup RGR c.836dupG; p.Ile280Asn*78 - RGR_000024 heterozygous PubMed: Ba-Abbad 2018 - - Germline yes - - - - DNA SEQ-NG blood - retinal disease WVU: IV-6 PubMed: Ba-Abbad 2018 Family WVU, individual IV-6 M - - - - - - - 1 LOVD
+?/. - c.836dup r.(?) p.(Ile280Asnfs*78) Paternal (inferred) - likely pathogenic (dominant) g.86018343dup g.84258587dup RGR c.836dupG; p.Ile280Asn*78 - RGR_000024 heterozygous PubMed: Ba-Abbad 2018 - - Germline yes - - - - DNA SEQ-NG blood - retinal disease MEH-GC4177:IV-1 PubMed: Ba-Abbad 2018 Family MEH-GC4177, individual IV-1 F - - - - - - - 1 LOVD
+?/. - c.836dup r.(?) p.(Ile280Asnfs*78) Maternal (confirmed) - likely pathogenic (dominant) g.86018343dup g.84258587dup RGR c.836dupG; p.Ile280Asn*78 - RGR_000024 heterozygous PubMed: Ba-Abbad 2018 - - Germline yes - - - - DNA SEQ-NG blood - retinal disease MEH-GC4177:V-1 PubMed: Ba-Abbad 2018 Family MEH-GC4177, individual V-1 F - - - - - - - 1 LOVD
+?/. - c.836dup r.(?) p.(Ile280Asnfs*78) Maternal (confirmed) - likely pathogenic (dominant) g.86018343dup g.84258587dup RGR c.836dupG; p.Ile280Asn*78 - RGR_000024 heterozygous PubMed: Ba-Abbad 2018 - - Germline yes - - - - DNA SEQ-NG blood - retinal disease MEH-GC4177:V-2 PubMed: Ba-Abbad 2018 Family MEH-GC4177, individual V-2 M - - - - - - - 1 LOVD
+?/. - c.836dup r.(?) p.(Ile280Asnfs*78) Paternal (confirmed) - likely pathogenic (dominant) g.86018343dup g.84258587dup RGR c.836dupG; p.Ile280Asn*78 - RGR_000024 heterozygous PubMed: Ba-Abbad 2018 - - Germline yes - - - - DNA SEQ-NG blood - retinal disease MEH-GC4177:VI-1 PubMed: Ba-Abbad 2018 Family MEH-GC4177, individual VI-1 F - - - - - - - 1 LOVD
+?/. - c.836dup r.(?) p.(Ile280Asnfs*78) Paternal (inferred) - likely pathogenic (dominant) g.86018343dup g.84258587dup RGR 1-bp insertion in codon Gly275 (GGA?GGGA) - RGR_000024 obsolete annotation, the change is actually c.836dupG; p.Ile280Asn*78 (exatraplolated from sequence and databases); heterozygous PubMed: Morimura 1999 - - Germline yes 0/95 unaffected controls - - - DNA SEQ-NG blood - retinal disease 060-012 PubMed: Morimura 1999 family B763, individual 060-012 M - - - - - - - 1 LOVD
+?/. - c.836dup r.(?) p.(Ile280Asnfs*78) Paternal (inferred) - likely pathogenic (dominant) g.86018343dup g.84258587dup RGR 1-bp insertion in codon Gly275 (GGA?GGGA) - RGR_000024 obsolete annotation, the change is actually c.836dupG; p.Ile280Asn*78 (exatraplolated from sequence and databases); heterozygous PubMed: Morimura 1999 - - Germline yes 0/95 unaffected controls - - - DNA SEQ-NG blood - retinal disease (II:2) PubMed: Morimura 1999 family B763, individual II:2 F - - - - - - - 1 LOVD
+?/. - c.836dup r.(?) p.(Ile280Asnfs*78) Paternal (inferred) - likely pathogenic (dominant) g.86018343dup g.84258587dup RGR 1-bp insertion in codon Gly275 (GGA?GGGA) - RGR_000024 obsolete annotation, the change is actually c.836dupG; p.Ile280Asn*78 (exatraplolated from sequence and databases); heterozygous PubMed: Morimura 1999 - - Germline yes 0/95 unaffected controls - - - DNA SEQ-NG blood - retinal disease (II:3) PubMed: Morimura 1999 family B763, individual II:3 M - - - - - - - 1 LOVD
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