Full data view for gene RPGRIP1

This database is one of the "Eye disease" gene variant databases.
Information The variants shown are described using the NM_020366.3 transcript reference sequence.

33 entries on 1 page. Showing entries 1 - 33.
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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     
+/. 9 c.1107del r.(?) p.(Glu370Asnfs*5) Parent #1 - pathogenic g.21780621del g.21312462del - - RPGRIP1_000006 - PubMed: Abu-Safieh-2013 - - Germline - - - - - DNA SEQ-NG-I - - CORD - PubMed: Abu-Safieh-2013 - - - - - - - - - 1 Leen Abu Safieh
+/. 9 c.1107del r.(?) p.(Glu370Asnfs*5) Parent #2 - pathogenic g.21780621del g.21312462del - - RPGRIP1_000006 - PubMed: Abu-Safieh-2013 - - Germline - - - - - DNA SEQ-NG-I - - CORD - PubMed: Abu-Safieh-2013 - - - - - - - - - 1 Leen Abu Safieh
+/. 9 c.1107del r.(?) p.(Glu370Asnfs*5) Parent #1 - pathogenic g.21780621del g.21312462del - - RPGRIP1_000006 - PubMed: Abu-Safieh-2013 - - Germline - - - - - DNA SEQ-NG-I - - LCA - PubMed: Abu-Safieh-2013 - - - - - - - - - 1 Leen Abu Safieh
+/. 9 c.1107del r.(?) p.(Glu370Asnfs*5) Parent #2 - pathogenic g.21780621del g.21312462del - - RPGRIP1_000006 - PubMed: Abu-Safieh-2013 - - Germline - - - - - DNA SEQ-NG-I - - LCA - PubMed: Abu-Safieh-2013 - - - - - - - - - 1 Leen Abu Safieh
+/. - c.1107del r.(?) p.(Glu370AsnfsTer5) Unknown - pathogenic g.21780621del - RPGRIP1(NM_020366.4):c.1107delA (p.E370Nfs*5) - RPGRIP1_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.1107del r.(?) p.(Glu370Asnfs*5) Both (homozygous) - likely pathogenic g.21780621del g.21312462del 1107delA - RPGRIP1_000006 - PubMed: Ellingford 2016 - - Germline - - - - - DNA SEQ - 105-gene panel retinal disease 12015787 PubMed: Ellingford 2016 familial segregation analysis requested - - - - - - - - 1 LOVD
+?/. - c.1107del r.(?) p.(Glu370Asnfs*5) Both (homozygous) - likely pathogenic g.21780621del g.21312462del 1107delA - RPGRIP1_000006 - PubMed: Ellingford 2016 - - Germline - - - - - DNA SEQ - 105-gene panel retinal disease 13010086 PubMed: Ellingford 2016 patient - - - - - - - - 1 LOVD
+?/. - c.1107del r.(?) p.(Glu370AsnfsTer5) Unknown - likely pathogenic g.21780621del g.21312462del - - RPGRIP1_000006 - PubMed: Patel 2016 - - Germline - - - - - DNA SEQ-NG - gene panel retinal disease 11DG0522 PubMed: Patel 2016 - - - Saudi Arabia - - - - - 1 LOVD
+?/. - c.1107del r.(?) p.(Glu370AsnfsTer5) Both (homozygous) - likely pathogenic (recessive) g.21780621del g.21312462del 1107delA - RPGRIP1_000006 - PubMed: Khan 2014 - - Germline - - - - - DNA SEQ-NG - 14-gene panel retinal disease Pat1-1 PubMed: Khan 2014 family, 2 affected M yes Saudi Arabia - - - - - 2 LOVD
+?/. - c.1107del r.(?) p.(Glu370AsnfsTer5) Both (homozygous) - likely pathogenic (recessive) g.21780621del g.21312462del 1107delA - RPGRIP1_000006 - PubMed: Khan 2014 - - Germline - - - - - DNA SEQ-NG - 14-gene panel retinal disease Pat1-2 PubMed: Khan 2014 - F yes Saudi Arabia - - - - - 1 LOVD
+?/. - c.1107del r.(?) p.(Glu370AsnfsTer5) Both (homozygous) - likely pathogenic (recessive) g.21780621del g.21312462del 1107delA - RPGRIP1_000006 - PubMed: Khan 2014 - - Germline - - - - - DNA SEQ-NG - 14-gene panel retinal disease Pat4 PubMed: Khan 2014 - M yes Saudi Arabia - - - - - 1 LOVD
+?/. - c.1107del r.(?) p.(Glu370AsnfsTer5) Both (homozygous) - likely pathogenic (recessive) g.21780621del g.21312462del 1107delA - RPGRIP1_000006 - PubMed: Khan 2014 - - Germline - - - - - DNA SEQ-NG - 14-gene panel retinal disease Pat10 PubMed: Khan 2014 - F yes Saudi Arabia - - - - - 1 LOVD
+?/. - c.1107del r.(?) p.(Glu370AsnfsTer5) Both (homozygous) - likely pathogenic (recessive) g.21780621del g.21312462del 1107delA - RPGRIP1_000006 - PubMed: Khan 2014 - - Germline - - - - - DNA SEQ-NG - 14-gene panel retinal disease Pat13 PubMed: Khan 2014 - F yes Saudi Arabia - - - - - 1 LOVD
+?/. - c.1107del r.(?) p.(Glu370AsnfsTer5) Both (homozygous) - likely pathogenic (recessive) g.21780621del g.21312462del 1107delA - RPGRIP1_000006 - PubMed: Khan 2014 - - Germline - - - - - DNA SEQ-NG - 14-gene panel retinal disease Pat14 PubMed: Khan 2014 - F yes Saudi Arabia - - - - - 1 LOVD
+?/. - c.1107del r.(?) p.(Glu370AsnfsTer5) Both (homozygous) - likely pathogenic (recessive) g.21780621del g.21312462del 1107delA - RPGRIP1_000006 - PubMed: Khan 2014 - - Germline - - - - - DNA SEQ-NG - 14-gene panel retinal disease Pat15 PubMed: Khan 2014 - F yes Saudi Arabia - - - - - 1 LOVD
+?/. - c.1107del r.(?) p.(Glu370AsnfsTer5) Both (homozygous) - likely pathogenic (recessive) g.21780621del g.21312462del 1107delA - RPGRIP1_000006 - PubMed: Khan 2014 - - Germline - - - - - DNA SEQ-NG - 14-gene panel retinal disease Pat16 PubMed: Khan 2014 - F yes Saudi Arabia - - - - - 1 LOVD
+?/. - c.1107del r.(?) p.(Glu370AsnfsTer5) Both (homozygous) - likely pathogenic (recessive) g.21780621del g.21312462del 1107delA - RPGRIP1_000006 - PubMed: Khan 2014 - - Germline - - - - - DNA SEQ-NG - 14-gene panel retinal disease Pat18 PubMed: Khan 2014 - F yes Saudi Arabia - - - - - 1 LOVD
+?/. - c.1107del r.(?) p.(Glu370AsnfsTer5) Both (homozygous) - likely pathogenic (recessive) g.21780621del g.21312462del 1107delA - RPGRIP1_000006 - PubMed: Khan 2014 - - Germline - - - - - DNA SEQ-NG - 14-gene panel retinal disease Pat19-1 PubMed: Khan 2014 family, 2 affected F yes Saudi Arabia - - - - - 2 LOVD
+?/. - c.1107del r.(?) p.(Glu370AsnfsTer5) Both (homozygous) - likely pathogenic (recessive) g.21780621del g.21312462del 1107delA - RPGRIP1_000006 - PubMed: Khan 2014 - - Germline - - - - - DNA SEQ-NG - 14-gene panel retinal disease Pat19-2 PubMed: Khan 2014 - M yes Saudi Arabia - - - - - 1 LOVD
?/. 9 c.1107del r.(?) p.(Glu370Asnfs*5) Both (homozygous) - VUS g.21780621del - c.1107del - RPGRIP1_000006 - PubMed: Abu-Safieh-2013 - - Germline - - - - - DNA SEQ-NG blood exome sequencing retinal disease - PubMed: Abu-Safieh-2013 - - - Saudi Arabia - - - - - 1 LOVD
+/. 9 c.1107del r.(?) p.(Glu370Asnfs*5) Both (homozygous) - pathogenic g.21780621del - c.1107delA - RPGRIP1_000006 - PubMed: Eisenberger-2013 - rs61751266 Germline - - - - - DNA SEQ-NG-I, SEQ-NG-R, SEQ blood - retinal disease - PubMed: Eisenberger-2013 - M yes Saudi Arabia - - - - - 1 LOVD
+/. 9 c.1107del r.(?) p.(Glu370Asnfs*5) Both (homozygous) - pathogenic g.21780621del - c.1107delA - RPGRIP1_000006 - PubMed: Eisenberger-2013 - rs61751266 Germline - - - - - DNA SEQ-NG-I, SEQ-NG-R, SEQ blood - retinal disease - PubMed: Eisenberger-2013 - M ? Saudi Arabia - - - - - 1 LOVD
+/. 9 c.1107del r.(?) p.(Glu370Asnfs*5) Both (homozygous) - pathogenic g.21780621del - c.1107delA - RPGRIP1_000006 - PubMed: Eisenberger-2013 - rs61751266 Germline - - - - - DNA SEQ-NG-I, SEQ-NG-R, SEQ blood - retinal disease - PubMed: Eisenberger-2013 - F yes Saudi Arabia - - - - - 1 LOVD
+/. 9 c.1107del r.(?) p.(Glu370Asnfs*5) Both (homozygous) - pathogenic g.21780621del - c.1107delA - RPGRIP1_000006 - PubMed: Eisenberger-2013 - rs61751266 Germline - - - - - DNA SEQ-NG-I, SEQ-NG-R, SEQ blood - retinal disease - PubMed: Eisenberger-2013 - F yes Saudi Arabia - - - - - 1 LOVD
+?/. - c.1107del r.(?) p.(Glu370Asnfs*5) Both (homozygous) - likely pathogenic g.21780621del g.21312462del RPGRIP1 c.1107del p.(Glu370Asnfs *5) - RPGRIP1_000006 homozygous PubMed: Méjécase 2020 - - Unknown ? - - - - DNA SEQ-NG - retrospective case note review, targeted gene panel testing retinal disease 4 {PMID:Méjécase 2020:3278337 - ? - United Arab Emirates - - - - - 1 LOVD
+?/. 9 c.1107del r.(?) p.(Glu370AsnfsTer5) Parent #1 - likely pathogenic g.21780621del g.21312462del c.1107delA - RPGRIP1_000006 no variant 2nd chromosome PubMed: Zou 2021 - - Germline/De novo (untested) - - - - - DNA SEQ - - retinal disease 207_3 PubMed: Zou 2021 - - - China - - - - - 1 Johan den Dunnen
+?/. - c.1107del r.(?) p.(Glu370Asnfs*5) Both (homozygous) - likely pathogenic g.21780621del g.21312462del RPGRIP1 Lys342(1-bp del) - RPGRIP1_000006 no nucleotide annotation, extrapolated from sequence; homozygous PubMed: Dryja 2001 - - Germline yes - - - - DNA SEQ - - retinal disease 048-051 PubMed: Dryja 2001 family #9449, proband M - United States - - - - - 1 LOVD
+?/. - c.1107del r.(?) p.(Glu370Asnfs*5) Both (homozygous) - likely pathogenic g.21780621del g.21312462del RPGRIP1 c.1107delA, p.(Glu370Asnfs*5) - RPGRIP1_000006 homozygous PubMed: Khan 2013 - - Germline yes - - - - DNA ? - retrospective study, homozygosity-mapping guided candidate gene analysis or next-generation sequencing of a panel of candidate genes retinal disease 3 PubMed: Khan 2013 family 2, proband F yes Saudi Arabia - - - - - 1 LOVD
+?/. - c.1107del r.(?) p.(Glu370Asnfs*5) Both (homozygous) - likely pathogenic g.21780621del g.21312462del RPGRIP1 c.1107delA, p.(Glu370Asnfs*5) - RPGRIP1_000006 homozygous PubMed: Khan 2013 - - Germline yes - - - - DNA ? - retrospective study, homozygosity-mapping guided candidate gene analysis or next-generation sequencing of a panel of candidate genes retinal disease 4 PubMed: Khan 2013 family 2, proband's sibling M yes Saudi Arabia - - - - - 1 LOVD
+?/. - c.1107del r.(?) p.(Glu370Asnfs*5) Both (homozygous) - likely pathogenic g.21780621del g.21312462del RPGRIP1 c.1107delA, p.(Glu370Asnfs*5) - RPGRIP1_000006 homozygous PubMed: Khan 2013 - - Germline yes - - - - DNA ? - retrospective study, homozygosity-mapping guided candidate gene analysis or next-generation sequencing of a panel of candidate genes retinal disease 6 PubMed: Khan 2013 - M yes Saudi Arabia - - - - - 1 LOVD
+?/. - c.1107del r.(?) p.(Glu370Asnfs*5) Both (homozygous) - likely pathogenic g.21780621del g.21312462del RPGRIP1 c.1107delA, p.(Glu370Asnfs*5) - RPGRIP1_000006 homozygous PubMed: Khan 2013 - - Germline yes - - - - DNA ? - retrospective study, homozygosity-mapping guided candidate gene analysis or next-generation sequencing of a panel of candidate genes retinal disease 8 PubMed: Khan 2013 - F yes Saudi Arabia - - - - - 1 LOVD
+?/. - c.1107del r.(?) p.(Glu370Asnfs*5) Both (homozygous) - likely pathogenic g.21780621del g.21312462del RPGRIP1 c.1107delA, p.(Glu370Asnfs*5) - RPGRIP1_000006 homozygous PubMed: Khan 2013 - - Germline yes - - - - DNA ? - retrospective study, homozygosity-mapping guided candidate gene analysis or next-generation sequencing of a panel of candidate genes retinal disease 9 PubMed: Khan 2013 - F yes Saudi Arabia - - - - - 1 LOVD
+?/. - c.1107del r.(?) p.(Glu370Asnfs*5) Both (homozygous) ACMG likely pathogenic g.21780621del g.21312462del RPGRIP1,NM_020366.3,c.1107del, p.Glu370Asnfs*5 - RPGRIP1_000006 homozygous PubMed: Alfares 2018 - - Unknown ? frequency in 1500 in-house samples: 0 - - - DNA SEQ-NG - exome sequencing done at a commercial CAPaccredited laboratory retinal disease 22 PubMed: Alfares 2018 - M - - - - - - - 1 LOVD
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