Full data view for gene RPGR

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

17 entries on 1 page. Showing entries 1 - 17.
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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     
+/. 15b c.2442_2445del r.(?) p.(Gly817Lysfs*2) Parent #1 - pathogenic g.38145807_38145810del g.38286554_38286557del g.ORF15+689_692del4 - RPGR_000229 - PubMed: Vervoort 2000 - - Germline - - - - - DNA SSCA, SEQ - - retinal disease Fam9 PubMed: Vervoort 2000 - M - - - - - - - 1 LOVD
+/. 15b c.2442_2445del r.(?) p.(Gly817Lysfs*2) Parent #1 - pathogenic g.38145807_38145810del g.38286554_38286557del g.ORF15+689_692del4 - RPGR_000229 - PubMed: Vervoort 2000 - - Germline - - - - - DNA SSCA, SEQ - - retinal disease Fam60 PubMed: Vervoort 2000 - M - - - - - - - 1 LOVD
+/. 15b c.2442_2445del r.(?) p.(Gly817Lysfs*2) Parent #1 - pathogenic g.38145807_38145810del g.38286554_38286557del g.ORF15+689_692del4 - RPGR_000229 - PubMed: Vervoort 2000 - - Germline - - - - - DNA SSCA, SEQ - - retinal disease Fam68 PubMed: Vervoort 2000 - M - - - - - - - 1 LOVD
+/. 15b c.2442_2445del r.(?) p.(Gly817Lysfs*2) Parent #1 - pathogenic g.38145807_38145810del g.38286554_38286557del g.ORF15+689_692del4 - RPGR_000229 - PubMed: Vervoort 2000 - - Germline - - - - - DNA SSCA, SEQ - - retinal disease Fam78 PubMed: Vervoort 2000 - M - - - - - - - 1 LOVD
+/. - c.2442_2445del r.(?) p.(Gly817Lysfs*2) Maternal (inferred) - pathogenic g.38145807_38145810del g.38286554_38286557del g.ORF15+689_692delAGAG (p.ORF15+V229fs) - RPGR_000229 - PubMed: Bader 2003 - - Germline - - - - - DNA SEQ - - retinal disease family PubMed: Bader 2003 - M - Germany - - - - - 1 LOVD
+?/. - c.2442_2445del r.(?) p.(Gly817Lysfs*2) Unknown - likely pathogenic g.38145807_38145810del g.38286554_38286557del 2442_2445delAGAG - RPGR_000229 - PubMed: Stone 2017 - - Germline - - - - - DNA SEQ-NG - - retinal disease 233 PubMed: Stone 2017 family, 2 affected F - (United States) - - - - - 2 LOVD
+/. 12 c.2442_2445del r.(?) p.(Gly817Lysfs*2) Maternal (inferred) - pathogenic g.38145807_38145810delCTCT - c.2442_2445delAGAG (p.Val814fs) - RPGR_000229 - PubMed: Branham-2012 - - Germline - - - - - DNA SEQ, PCR blood - retinal disease - PubMed: Branham-2012 - M - - - - - - - 1 LOVD
+/. 12 c.2442_2445del r.(=) p.(Gly817Lysfs*2) Unknown - pathogenic g.38145807_38145810del - c.2442_2445del (p.Gly817Lysfs*2) - RPGR_000229 - PubMed: Churchill-2013 - - Germline - - - - - DNA SEQ blood Subcloning retinal disease - PubMed: Churchill-2013 - - - United States - - - - - 1 LOVD
+?/. 15 c.2442_2445del r.(?) p.(Gly817Lysfs*2) Maternal (confirmed) ACMG likely pathogenic g.38145807_38145810del g.38286554_38286557del c.2442_2445delAGAG, p.Gly817Lysfs*2 - RPGR_000229 Heterozygous PubMed: Birtel 2018 - - Germline ? - - - - DNA SEQ-NG blood - retinal disease 68 PubMed: Birtel 2018 - F - Germany - - - - - 1 LOVD
+/. - c.2442_2445del r.(?) p.(Gly817Lysfs*2) Unknown ACMG pathogenic g.38145807_38145810del g.38286554_38286557del RPGR:NM_001034853 c.2442_2445del, p.(Gly817Lysfs*2) - RPGR_000229 heterozygous, individual solved, variant causal PubMed: Rodriguez-Munoz 2020 - - Germline yes - - - - DNA SEQ-NG-I blood - retinal disease RPN-230 PubMed: Rodriguez-Munoz 2020 family fRPN-97, proband F - Spain - - - - - 1 LOVD
+/. - c.2442_2445del r.(?) p.(Gly817Lysfs*2) Unknown ACMG pathogenic g.38145807_38145810del g.38286554_38286557del c.2442_2445del; p.(Gly817Lysfs*2) - RPGR_000229 hemizygous, individual solved, variant causal PubMed: Rodriguez-Munoz 2020 - - Germline yes - - - - DNA SEQ-NG-I blood - retinal disease RPN-231 PubMed: Rodriguez-Munoz 2020 family fRPN-97, family member M - Spain - - - - - 1 LOVD
+/. - c.2442_2445del r.(?) p.(Gly817Lysfs*2) Unknown ACMG pathogenic g.38145807_38145810del g.38286554_38286557del c.2442_2445del; p.(Gly817Lysfs*2) - RPGR_000229 heterozygous, individual solved, variant causal PubMed: Rodriguez-Munoz 2020 - - Germline yes - - - - DNA SEQ-NG-I blood - retinal disease RPN-440 PubMed: Rodriguez-Munoz 2020 family fRPN-97, family member F - Spain - - - - - 1 LOVD
+/. - c.2442_2445del r.(?) p.(Gly817Lysfs*2) Unknown ACMG pathogenic g.38145807_38145810del g.38286554_38286557del RPGR:NM_001034853 c.2442_2445del, p.(Gly817Lysfs*2) - RPGR_000229 heterozygous, individual solved, variant non-causal PubMed: Rodriguez-Munoz 2020 - - Germline ? - - - - DNA SEQ-NG-I blood - retinal disease RPN-230 PubMed: Rodriguez-Munoz 2020 family fRPN-97, proband F - Spain - - - - - 1 LOVD
+?/. - c.2442_2445del r.(?) p.(Gly817Lysfs*2) Parent #1 - likely pathogenic g.38145807_38145810del g.38286554_38286557del RPGR, variant 1: c.2442_2445del/p.G817Kfs*2 - RPGR_000229 solved, hemizygous PubMed: Weisschuh 2020 - - Unknown ? - - - - DNA SEQ-NG blood RET6 targeted sequencing panel - see paper retinal disease 434 PubMed: Weisschuh 2020 Filing key number: 139, X-linked retinitis pigmentosa, no patient Ids, consecutive numbers given M - Germany - - - - - 1 LOVD
+?/. 12 c.2442_2445del r.(=) p.(Gly817Lysfs*2) Maternal (inferred) - likely pathogenic (maternal) g.38145807_38145810del - c.2442_2445delAGAG - RPGR_000229 - PubMed: Liu-2020 - - Germline - - - - - DNA SEQ-NG, SEQ - hereditary eye disease enrichment panel (HEDEP) retinal disease - PubMed: Liu-2020 - M - - - - - - - 1 LOVD
+?/. 15 c.2442_2445del r.(?) p.(Gly817Lysfs*2) Unknown - likely pathogenic g.38145807_38145810del g.38286554_38286557del ORF15+689_692del (ORF15G232fs*2) - RPGR_000229 obsolete ORF15 annotation; hemizygous PubMed: Fahim 2011 - - Germline/De novo (untested) ? - - - - DNA SEQ - - retinal disease 78 PubMed: Fahim 2011 no patient numbering, consecutive numbers given M - - - - - - - 1 LOVD
+?/. 15 c.2442_2445del r.(?) p.(Gly817Lysfs*2) Unknown - likely pathogenic g.38145807_38145810del g.38286554_38286557del ORF15+689_692del (ORF15G232fs*2) - RPGR_000229 obsolete ORF15 annotation; hemizygous PubMed: Fahim 2011 - - Germline/De novo (untested) ? - - - - DNA SEQ - - retinal disease 79 PubMed: Fahim 2011 no patient numbering, consecutive numbers given M - - - - - - - 1 LOVD
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