Full data view for gene RP1

This database is one of the "Eye disease" gene variant databases.
Information The variants shown are described using the NM_006269.1 transcript reference sequence.

40 entries on 1 page. Showing entries 1 - 40.
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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.2285_2289del r.(?) p.(Leu762Tyrfs*17) Parent #1 - pathogenic g.55538727_55538731del g.54626167_54626171del 2284_2289del - RP1_000053 reported as 762fs* PubMed: Payne 2000 - - Germline - - - - - DNA SEQ - - RPad - - - - - - - - - - - 1 Christina Zeitz
+/. 4 c.2285_2289del r.(?) p.(Leu762Tyrfs*17) Parent #1 - pathogenic g.55538727_55538731del g.54626167_54626171del 2280_2284del - RP1_000053 - PubMed: Bowne 1999 - - Germline - - - - - DNA SEQ - - RPad - - 3-generation family, 2 affecteds (2M) M - United States - - - - - 2 Christina Zeitz
+/. 4 c.2285_2289del r.(?) p.(Leu762Tyrfs*17) Parent #1 - pathogenic g.55538727_55538731del g.54626167_54626171del 2280_2284del - RP1_000053 - PubMed: Pierce 1999 - - Germline - - - - - DNA SEQ - - RPad - - - - - - - - - - - 1 Christina Zeitz
+/. 4 c.2285_2289del r.(?) p.(Leu762Tyrfs*17) Parent #1 - pathogenic g.55538727_55538731del g.54626167_54626171del 2280_2284del - RP1_000053 - PubMed: Jacobson 2000 - - Germline - - - - - DNA SEQ - - RPad - - - - - - - - - - - 1 Christina Zeitz
+/. 4 c.2285_2289del r.(?) p.(Leu762Tyrfs*17) Parent #1 - pathogenic g.55538727_55538731del g.54626167_54626171del 2280_2284del - RP1_000053 - PubMed: Payne 2000 - - Germline - - - - - DNA SEQ - - RPad - - - - - - - - - - - 2 Christina Zeitz
+/. 4 c.2285_2289del r.(?) p.(Leu762Tyrfs*17) Parent #1 - pathogenic g.55538727_55538731del g.54626167_54626171del 2280_2284del - RP1_000053 - PubMed: Berson 2001 - - Germline - - - - - DNA SEQ - - RPad - - - - - - - - - - - 1 Christina Zeitz
+/. 4 c.2285_2289del r.(?) p.(Leu762Tyrfs*17) Parent #1 - pathogenic g.55538727_55538731del g.54626167_54626171del 2280_2284del - RP1_000053 - PubMed: Sohocki 2001 - - Germline - - - - - DNA SEQ - - RPad - - - - - - - - - - - 1 Christina Zeitz
+/. 4 c.2285_2289del r.(?) p.(Leu762Tyrfs*17) Parent #1 - pathogenic g.55538727_55538731del g.54626167_54626171del 2280_2284del - RP1_000053 - Sullivan 2006 - - Germline - - - - - DNA SEQ - - RPad - - - - - - - - - - - 1 Christina Zeitz
+/. 4 c.2285_2289del r.(?) p.(Leu762Tyrfs*17) Parent #1 - pathogenic g.55538727_55538731del g.54626167_54626171del 2280_2284del - RP1_000053 - PubMed: Bowne 1999 - - Germline - - - - - DNA SEQ - - RPad - - 2-generation family, 2 affecteds (F, M) - - United States - - - - - 2 Christina Zeitz
+/. 4 c.2285_2289del r.(?) p.(Leu762Tyrfs*17) Parent #1 - pathogenic g.55538727_55538731del g.54626167_54626171del 2280_2284del - RP1_000053 - PubMed: Bowne 1999 - - Germline - - - - - DNA SEQ - - RPad - - 5-generation family, 7 affecteds (2F, 5M) - - United States - - - - - 7 Christina Zeitz
+/. 4 c.2285_2289del r.(?) p.(Leu762Tyrfs*17) Parent #1 - pathogenic g.55538727_55538731del g.54626167_54626171del 2280_2284del - RP1_000053 - PubMed: Bowne 1999 - - Germline - - - - - DNA SEQ - - RPad - - 3-generation family, 2 affecteds (F, M) - - United States - - - - - 2 Christina Zeitz
+/. 4 c.2285_2289del r.(?) p.(Leu762Tyrfs*17) Parent #1 - pathogenic g.55538727_55538731del g.54626167_54626171del 2280_2284del - RP1_000053 - PubMed: Bowne 1999 - - Germline - - - - - DNA SEQ - - RPad - - 3-generation family, 3 affecteds (F, 2M) - - United States - - - - - 3 Christina Zeitz
+/. - c.2285_2289del r.(?) p.(Leu762TyrfsTer17) Unknown - pathogenic g.55538727_55538731del g.54626167_54626171del RP1(NM_006269.1):c.2285_2289delTAAAT (p.L762Yfs*17), RP1(NM_006269.2):c.2285_2289delTAAAT (p.L762Yfs*17) - RP1_000053 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.2285_2289del r.(?) p.(Leu762Tyrfs*17) Parent #1 - pathogenic (dominant) g.55538727_55538731del - 2285_2289delTAAAT - RP1_000053 - PubMed: Chen 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - - retinal disease FamBPatII4/III3/III5/IV4 PubMed: Chen 2018 5-generation family, 4 affected (3F, M) F;M yes China - - - - - 4 Johan den Dunnen
+?/. - c.2285_2289del r.(?) p.(Leu762Tyrfs*17) Unknown - likely pathogenic g.55538727_55538731del g.54626167_54626171del 2280_2284delTAAAT - RP1_000053 - PubMed: Stone 2017 - - Germline - - - - - DNA SEQ-NG - - retinal disease 252 PubMed: Stone 2017 1 affected M - (United States) - - - - - 1 LOVD
+?/. - c.2285_2289del r.(?) p.(Leu762Tyrfs*17) Unknown - likely pathogenic g.55538727_55538731del g.54626167_54626171del 2280_2284delTAAAT - RP1_000053 - PubMed: Stone 2017 - - Germline - - - - - DNA SEQ-NG - - retinal disease 253 PubMed: Stone 2017 family, 3 affected M - (United States) - - - - - 3 LOVD
+?/. - c.2285_2289del r.(?) p.(Leu762Tyrfs*17) Unknown - likely pathogenic g.55538727_55538731del g.54626167_54626171del 2280_2284delTAAAT - RP1_000053 - PubMed: Stone 2017 - - Germline - - - - - DNA SEQ-NG - - retinal disease 319 PubMed: Stone 2017 1 affected F - (United States) - - - - - 1 LOVD
+?/. - c.2285_2289del r.(?) p.(Leu762Tyrfs*17) Unknown - likely pathogenic g.55538727_55538731del g.54626167_54626171del 2280_2284delTAAAT - RP1_000053 - PubMed: Stone 2017 - - Germline - - - - - DNA SEQ-NG - - retinal disease 320 PubMed: Stone 2017 1 affected F - (United States) - - - - - 1 LOVD
+?/. - c.2285_2289del r.(?) p.(Leu762Tyrfs*17) Unknown - likely pathogenic g.55538727_55538731del g.54626167_54626171del 2280_2284delTAAAT - RP1_000053 - PubMed: Stone 2017 - - Germline - - - - - DNA SEQ-NG - - retinal disease 321 PubMed: Stone 2017 family, 3 affected F - (United States) - - - - - 3 LOVD
+?/. - c.2285_2289del r.(?) p.(Leu762Tyrfs*17) Unknown - likely pathogenic g.55538727_55538731del g.54626167_54626171del 2280_2284delTAAAT - RP1_000053 - PubMed: Stone 2017 - - Germline - - - - - DNA SEQ-NG - - retinal disease 497 PubMed: Stone 2017 family, 2 affected F - (United States) - - - - - 2 LOVD
+/. 4 c.2285_2289del r.(?) p.(Leu762Tyrfs*17) Parent #1 - pathogenic g.55538727_55538731del - 2285_2289del - RP1_000053 - PubMed: Sullivan 2006 - - Germline yes - - - - DNA SEQ - - retinal disease - PubMed: Sullivan 2006 3 families - - United States - - - - - 4 Julia Lopez
+/. - c.2285_2289del r.(?) p.(Leu762Tyrfs*17) Parent #1 - pathogenic g.55538727_55538731del g.54626167_54626171del 2285_2289delTAAAT - RP1_000053 - PubMed: Carrigan 2016 - - Germline - - - - - DNA SEQ-NG - gene panel retinal disease - PubMed: Carrigan 2016 - - - Ireland - - - - - 1 LOVD
+?/. - c.2285_2289del r.(?) p.(Leu762Tyrfs*17) Unknown - likely pathogenic g.55538727_55538731del g.54626167_54626171del 2285_2289delTAAAT - RP1_000053 - PubMed: Ellingford 2016 - - Germline - - - - - DNA SEQ - 105-gene panel retinal disease 13001457 PubMed: Ellingford 2016 patient - - - - - - - - 1 LOVD
+/. - c.2285_2289del r.(?) p.(Leu762TyrfsTer17) Parent #1 - pathogenic g.55538727_55538731del g.54626167_54626171del 2285_2289delTAAAT - RP1_000053 - PubMed: Watson 2014 - - Germline - - - - - DNA SEQ-NG - 162-gene panel retinal disease PatC PubMed: Watson 2014 family - - United Kingdom (Great Britain) - - - - - 1 LOVD
+/. 4 c.2285_2289del r.spl p.(Leu762Tyrfs*17) Paternal (inferred) ACMG pathogenic g.55538727_55538731del g.54626167_54626171del - - RP1_000053 - Tracewska 2021, MolVis in press - - Germline yes 0 (in-house database, ~5000 samples) - - - DNA SEQ-NG-I, SEQ blood targeted resequencing using MIPs library prep, 108-gene panel retinal disease 341 Tracewska 2021, MolVis in press proband M no Poland Slavic - - yes - 1 LOVD
+?/. 4 c.2285_2289del r.(?) p.(Leu762Tyrfs*17) Unknown - likely pathogenic g.55538727_55538731del - c.2285_2289del - RP1_000053 - PubMed: Sullivan-2013 - - Unknown - - - - - DNA SEQ, PCR blood - retinal disease - PubMed: Sullivan-2013 - - no - - - - - - 1 LOVD
+?/. 4 c.2285_2289del r.(?) p.(Leu762Tyrfs*17) Unknown - likely pathogenic g.55538727_55538731del g.54626167_54626171del c.2285_2289del, p.(Leu762Tyrfs*17) - RP1_000053 - PubMed: Nanda 2019 - - Germline - - - - - DNA SEQ-NG-I blood HaloPlex 45 to 111 genes retinal disease 3 PubMed: Nanda 2019 - M - United Kingdom (Great Britain) - - - - - 1 LOVD
+?/. 4 c.2285_2289del r.(?) p.(Leu762Tyrfs*17) Unknown - likely pathogenic g.55538727_55538731del g.54626167_54626171del c.2285_2289del, p.(Leu762Tyrfs*17) - RP1_000053 - PubMed: Nanda 2019 - - Germline - - - - - DNA SEQ-NG-I blood HaloPlex 45 to 111 genes retinal disease 12 PubMed: Nanda 2019 - M - United Kingdom (Great Britain) - - - - - 1 LOVD
+?/. - c.2285_2289del r.(?) p.(Leu762Tyrfs*17) Unknown - likely pathogenic g.55538727_55538731del g.54626167_54626171del RP1 c.2285_2289del, p.L762YfsX17 - RP1_000053 heterozygous PubMed: Jauregui 2020 - - Unknown ? - - - - DNA SEQ-NG blood targeted sequencing retinal disease 43 PubMed: Jauregui 2020 - F - (United States) white - - - - 1 LOVD
+?/. - c.2285_2289del r.(?) p.(Leu762Tyrfs*17) Unknown - likely pathogenic g.55538727_55538731del g.54626167_54626171del RP1 c.2285_2289del, p.L762YfsX17 - RP1_000053 heterozygous PubMed: Jauregui 2020 - - Unknown ? - - - - DNA SEQ-NG blood targeted sequencing retinal disease 46 PubMed: Jauregui 2020 - M - (United States) white - - - - 1 LOVD
+?/. - c.2285_2289del r.(?) p.(Leu762Tyrfs*17) Unknown - likely pathogenic g.55538727_55538731del g.54626167_54626171del RP1 c.2285_2289del, p.L762YfsX17 - RP1_000053 heterozygous PubMed: Jauregui 2020 - - Unknown ? - - - - DNA SEQ-NG blood targeted sequencing retinal disease 50 PubMed: Jauregui 2020 - F - (United States) white - - - - 1 LOVD
+?/. - c.2285_2289del r.(?) p.(Leu762Tyrfs*17) Unknown - likely pathogenic g.55538727_55538731del g.54626167_54626171del RP1 c.2285_2289del, p.L762YfsX17 - RP1_000053 heterozygous PubMed: Jauregui 2020 - - Unknown ? - - - - DNA SEQ-NG blood targeted sequencing retinal disease 51 PubMed: Jauregui 2020 - F - (United States) white - - - - 1 LOVD
+/. - c.2285_2289del r.(?) p.(Leu762Tyrfs*17) Unknown - pathogenic g.55538727_55538731del g.54626167_54626171del RP1 c.2285_2289delTAAAT, p.Leu762TyrfsTer17 - RP1_000053 heterozygous PubMed: Turro 2020 - - Germline/De novo (untested) ? - - - - DNA SEQ-NG-I blood whole genome sequencing retinal disease G009831 PubMed: Turro 2020 only individuals with mutations in retinal disease genes from this publication were inserted into LOVD ? - - - - - - - 1 LOVD
+?/. 4 c.2285_2289del r.(?) p.(Leu762Tyrfs*17) Maternal (inferred) - likely pathogenic (dominant) g.55538727_55538731del g.54626167_54626171del RP1 codon: 762, sequence: TAAAT del, protein: Leu762(5-bp del) - RP1_000053 heterozygous PubMed: Pierce 1999 - rs869320726 Germline yes 0/95 control individuals - - - DNA STR, SEQ blood - retinal disease II-1 PubMed: Pierce 1999 Family of index patient 2480 F - - American or Canadian - - - - 1 LOVD
+?/. 4 c.2285_2289del r.(?) p.(Leu762Tyrfs*17) Paternal (confirmed) - likely pathogenic (dominant) g.55538727_55538731del g.54626167_54626171del RP1 codon: 762, sequence: TAAAT del, protein: Leu762(5-bp del) - RP1_000053 heterozygous PubMed: Pierce 1999 - rs869320726 Germline yes 0/95 control individuals - - - DNA STR, SEQ blood - retinal disease II-2 PubMed: Pierce 1999 Family of index patient 7050, proband M - - American or Canadian - - - - 1 LOVD
+?/. 4 c.2285_2289del r.(?) p.(Leu762Tyrfs*17) Paternal (confirmed) - likely pathogenic (dominant) g.55538727_55538731del g.54626167_54626171del RP1 codon: 762, sequence: TAAAT del, protein: Leu762(5-bp del) - RP1_000053 heterozygous PubMed: Pierce 1999 - rs869320726 Germline yes 0/95 control individuals - - - DNA STR, SEQ blood - retinal disease II-1 PubMed: Pierce 1999 Family of index patient 7050, proband's sister F - - American or Canadian - - - - 1 LOVD
+?/. 4 c.2285_2289del r.(?) p.(Leu762Tyrfs*17) Unknown - likely pathogenic (dominant) g.55538727_55538731del g.54626167_54626171del RP1 codon: 762, sequence: TAAAT del, protein: Leu762(5-bp del) - RP1_000053 heterozygous PubMed: Pierce 1999 - rs869320726 Germline yes 0/95 control individuals - - - DNA STR, SEQ blood - retinal disease II-3 PubMed: Pierce 1999 Family of index patient 7050, proband's father M - - American or Canadian - - - - 1 LOVD
+?/. - c.2285_2289del r.(?) p.(Leu762Tyrfs*17) Maternal (confirmed) - likely pathogenic (dominant) g.55538727_55538731del g.54626167_54626171del RP1 c.2285_2289del, p.Leu762Tyrfs*17 - RP1_000053 heterozygous PubMed: Verbakel 2019 - - Germline yes - - - - DNA SEQ-NG, SEQ blood whole exome sequencing: vision gene panel analysis retinal disease N-III:9 PubMed: Verbakel 2019 family N, proband F - - East Asian - - - - 1 LOVD
+?/. - c.2285_2289del r.(?) p.(Leu762Tyrfs*17) Unknown - likely pathogenic (dominant) g.55538727_55538731del g.54626167_54626171del RP1 c.2285_2289del, p.Leu762Tyrfs*17 - RP1_000053 heterozygous PubMed: Verbakel 2019 - - Germline yes - - - - DNA SEQ-NG, SEQ blood whole exome sequencing: vision gene panel analysis retinal disease N-II:2 PubMed: Verbakel 2019 family N, proband's mother F - - - - - - - 1 LOVD
+?/. - c.2285_2289del r.(?) p.(Leu762Tyrfs*17) Unknown - likely pathogenic (dominant) g.55538727_55538731del g.54626167_54626171del RP1 c.2285_2289del, p.Leu762Tyrfs*17 - RP1_000053 heterozygous PubMed: Verbakel 2019 - - Unknown ? - - - - DNA SEQ-NG, SEQ blood whole exome sequencing: vision gene panel analysis retinal disease O-II:1 PubMed: Verbakel 2019 family O, proband F - - white - - - - 1 LOVD
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