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.

103 entries on 2 pages. Showing entries 1 - 100.
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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.2029C>T r.(?) p.(Arg677*) Parent #1 - pathogenic g.55538471C>T g.54625911C>T - - RP1_000068 incomplete penetrance PubMed: Bowne 1999 - - De novo - - - - - DNA SEQ - - RPad - - 5-generation family, 7 affecteds (6F, 1M) - - United States - - - - - 7 Christina Zeitz
+/. 4 c.2029C>T r.(?) p.(Arg677*) Parent #1 - pathogenic g.55538471C>T g.54625911C>T 2098G>T (Glu700X) - RP1_000068 figure shows other variant, as given PubMed: Bowne 1999 - - Germline - - - - - DNA SEQ - - RPad - - 3-generation family, 8 affecteds (4F, 4M) - - United States - - - - - 8 Christina Zeitz
+/. 4 c.2029C>T r.(?) p.(Arg677*) Parent #1 - pathogenic g.55538471C>T g.54625911C>T - - RP1_000068 incomplete penetrance Guillonneau 1999 - - De novo - - - - - DNA SEQ - - RPad - - - - - - - - - - - 1 Christina Zeitz
+/. 4 c.2029C>T r.(?) p.(Arg677*) Parent #1 - pathogenic g.55538471C>T g.54625911C>T - - RP1_000068 incomplete penetrance PubMed: Pierce 1999 - - De novo - - - - - DNA SEQ - - RPad - - - - - - - - - - - 1 Christina Zeitz
+/. 4 c.2029C>T r.(?) p.(Arg677*) Parent #1 - pathogenic g.55538471C>T g.54625911C>T - - RP1_000068 incomplete penetrance PubMed: Sullivan 1999 - - De novo - - - - - DNA SEQ - - RPad - - - - - - - - - - - 1 Christina Zeitz
+/. 4 c.2029C>T r.(?) p.(Arg677*) Parent #1 - pathogenic g.55538471C>T g.54625911C>T - - RP1_000068 incomplete penetrance PubMed: Jacobson 2000 - - De novo - - - - - DNA SEQ - - RPad - - - - - - - - - - - 1 Christina Zeitz
+/. 4 c.2029C>T r.(?) p.(Arg677*) Parent #1 - pathogenic g.55538471C>T g.54625911C>T - - RP1_000068 incomplete penetrance PubMed: Payne 2000 - - De novo - - - - - DNA SEQ - - RPad - - - - - - - - - - - 1 Christina Zeitz
+/. 4 c.2029C>T r.(?) p.(Arg677*) Parent #1 - pathogenic g.55538471C>T g.54625911C>T - - RP1_000068 incomplete penetrance PubMed: Baum 2001 - - De novo - - - - - DNA SEQ - - RPad - - - - - - - - - - - 1 Christina Zeitz
+/. 4 c.2029C>T r.(?) p.(Arg677*) Parent #1 - pathogenic g.55538471C>T g.54625911C>T - - RP1_000068 incomplete penetrance PubMed: Berson 2001 - - De novo - - - - - DNA SEQ - - RPad - - - - - - - - - - - 1 Christina Zeitz
+/. 4 c.2029C>T r.(?) p.(Arg677*) Parent #1 - pathogenic g.55538471C>T g.54625911C>T - - RP1_000068 incomplete penetrance PubMed: Sohocki 2001 - - De novo - - - - - DNA SEQ - - RPad - - - - - - - - - - - 1 Christina Zeitz
+/. 4 c.2029C>T r.(?) p.(Arg677*) Parent #1 - pathogenic g.55538471C>T g.54625911C>T - - RP1_000068 incomplete penetrance PubMed: Xiaoli 2002 - - De novo - - - - - DNA SEQ - - RPad - - - - - - - - - - - 1 Christina Zeitz
+/. 4 c.2029C>T r.(?) p.(Arg677*) Parent #1 - pathogenic g.55538471C>T g.54625911C>T - - RP1_000068 incomplete penetrance Schwartz 2003 - - De novo - - - - - DNA SEQ - - RPad - - - - - - - - - - - 1 Christina Zeitz
+/. 4 c.2029C>T r.(?) p.(Arg677*) Parent #1 - pathogenic g.55538471C>T g.54625911C>T - - RP1_000068 incomplete penetrance PubMed: Ziviello 2005 - - De novo - - - - - DNA SEQ - - RPad - - - - - - - - - - - 1 Christina Zeitz
+/. 4 c.2029C>T r.(?) p.(Arg677*) Parent #1 - pathogenic g.55538471C>T g.54625911C>T - - RP1_000068 incomplete penetrance Chiang 2006 - - De novo - - - - - DNA SEQ - - RPad - - - - - - - - - - - 1 Christina Zeitz
+/. 4 c.2029C>T r.(?) p.(Arg677*) Parent #1 - pathogenic g.55538471C>T g.54625911C>T - - RP1_000068 incomplete penetrance PubMed: Gamundi 2006 - - De novo - - - - - DNA SEQ - - RPad - - - - - - - - - - - 1 Christina Zeitz
+/. 4 c.2029C>T r.(?) p.(Arg677*) Parent #1 - pathogenic g.55538471C>T g.54625911C>T - - RP1_000068 incomplete penetrance PubMed: Roberts 2006 - - De novo - - - - - DNA SEQ - - RPad - - - - - - - - - - - 1 Christina Zeitz
+/. 4 c.2029C>T r.(?) p.(Arg677*) Parent #1 - pathogenic g.55538471C>T g.54625911C>T - - RP1_000068 incomplete penetrance Sullivan 2006 - - De novo - - - - - DNA SEQ - - RPad - - - - - - - - - - - 1 Christina Zeitz
+/. 4 c.2029C>T r.(?) p.(Arg677*) Parent #1 - pathogenic g.55538471C>T g.54625911C>T - - RP1_000068 incomplete penetrance PubMed: Bowne 1999 - - De novo - - - - - DNA SEQ - - RPad - - 3-generation family, 3 affecteds (F, 2M) - - United States - - - - - 3 Christina Zeitz
+/. 4 c.2029C>T r.(?) p.(Arg677*) Parent #1 - pathogenic g.55538471C>T g.54625911C>T - - RP1_000068 incomplete penetrance PubMed: Bowne 1999 - - De novo - - - - - DNA SEQ - - RPad - - father and son M - United States - - - - - 2 Christina Zeitz
+/. 4 c.2029C>T r.(?) p.(Arg677*) Parent #1 - pathogenic g.55538471C>T g.54625911C>T - - RP1_000068 incomplete penetrance PubMed: Bowne 1999 - - De novo - - - - - DNA SEQ - - RPad - - mother and daughter F - United States - - - - - 2 Christina Zeitz
+/. 4 c.2029C>T r.(?) p.(Arg677*) Parent #1 - pathogenic g.55538471C>T g.54625911C>T - - RP1_000068 incomplete penetrance PubMed: Bowne 1999 - - De novo - - - - - DNA SEQ - - RPad - - 3-generation family, 6 affecteds (2F, 4M) - - United States - - - - - 6 Christina Zeitz
+/. - c.2029C>T r.(?) p.(Arg677Ter) Unknown - pathogenic g.55538471C>T g.54625911C>T RP1(NM_006269.2):c.2029C>T (p.R677*) - RP1_000068 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.2029C>T r.(?) p.(Arg677*) Unknown - pathogenic g.55538471C>T g.54625911C>T - - RP1_000068 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 - rs104894082 Germline - 2/1204 cases with retinitis pigmentosa - - - DNA SEQ-NG - - retinal disease - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 analysis 1204 retinitis pigmentosa cases - - Japan - - - - - 2 Yoshito Koyanagi
+/. - c.2029C>T r.(?) p.(Arg677Ter) Unknown - pathogenic g.55538471C>T g.54625911C>T RP1(NM_006269.2):c.2029C>T (p.R677*) - RP1_000068 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.2029C>T r.(?) p.(Arg677*) Parent #1 - pathogenic g.55538471C>T g.54625911C>T - - RP1_000068 - PubMed: Zenteno 2020 - - Germline - 1/143 cases - - - DNA SEQ, SEQ-NG - 199 gene panel retinal disease 3583 PubMed: Zenteno 2020 family - - Mexico - - - - - 1 Johan den Dunnen
+?/. 4 c.2029C>T r.(?) p.(Arg677*) Parent #1 - likely pathogenic g.55538471C>T - R677X - RP1_000068 - PubMed: Ziviello 2005 - - Germline - - - - - DNA DHPLC blood - retinal disease - PubMed: Ziviello 2005 - - - Italy - - - - - 2 Julia Lopez
+?/. - c.2029C>T r.(?) p.(Arg677*) Parent #1 - likely pathogenic (dominant) g.55538471C>T g.54625911C>T - - RP1_000068 - PubMed: Bryant 2018 - rs104894082 Germline - - - - - DNA SEQ-NG - WES retinal disease JB44 PubMed: Bryant 2018 - - - United States - - - - - 1 LOVD
+/. - c.2029C>T r.(?) p.(Arg677*) Unknown - pathogenic g.55538471C>T g.54625911C>T - - RP1_000068 - PubMed: Jones 2017 - - Germline - - - - - DNA SEQ, SEQ-NG - gene panel retinal disease FAM1-10295 PubMed: Jones 2017 relative M - United States - - - - - 1 LOVD
+/. - c.2029C>T r.(?) p.(Arg677*) Unknown - pathogenic g.55538471C>T g.54625911C>T - - RP1_000068 - PubMed: Jones 2017 - - Germline - - - - - DNA SEQ, SEQ-NG - gene panel retinal disease FAM1-10347 PubMed: Jones 2017 relative M - United States - - - - - 1 LOVD
+/. 4 c.2029C>T r.(?) p.(Arg677*) Parent #1 ACMG pathogenic (dominant) g.55538471C>T g.54625911C>T - - RP1_000068 - PubMed: Van Cauwenbergh 2017 - - Germline - - - - - DNA SEQ-NG - - retinal disease FAM_015 PubMed: Van Cauwenbergh 2017 - - - Belgium - - - - - 1 LOVD
+/. 4 c.2029C>T r.(?) p.(Arg677*) Parent #1 - pathogenic g.55538471C>T - 2029C>T - RP1_000068 - PubMed: Sullivan 2006 - - Germline yes - - - - DNA SEQ - - retinal disease - PubMed: Sullivan 2006 3 families - - United States - - - - - 20 Julia Lopez
+?/. - c.2029C>T r.(?) p.(Arg677*) Unknown - likely pathogenic g.55538471C>T g.54625911C>T - - RP1_000068 - PubMed: Ellingford 2016 - - Germline - - - - - DNA SEQ - 105-gene panel retinal disease 13004711 PubMed: Ellingford 2016 patient - - - - - - - - 1 LOVD
+?/. - c.2029C>T r.(?) p.(Arg677*) Unknown - likely pathogenic g.55538471C>T g.54625911C>T - - RP1_000068 - PubMed: Ellingford 2016 - - Germline - - - - - DNA SEQ - 105-gene panel retinal disease 12010631 PubMed: Ellingford 2016 familial segregation analysis requested - - - - - - - - 1 LOVD
+/. - c.2029C>T r.(?) p.(Arg677Ter) Parent #1 - pathogenic g.55538471C>T g.54625911C>T - - RP1_000068 - PubMed: Méndez-Vidal 2014 - - Germline - - - - - DNA arraySEQ - Asper retinal disease Pat8 PubMed: Méndez-Vidal 2014 - - - Spain - - - - - 1 LOVD
+?/. 4 c.2029C>T r.(?) p.(Arg677*) Unknown - likely pathogenic g.55538471C>T g.54625911C>T - - RP1_000068 - PubMed: Martin-Merida 2018 - - Germline ? 1/258 - - - DNA ? - various screening techniques within publication, not mentioned which particular individual had which techniques: SSCA, DGGE, arraySNP, SEQ-NG, WES retinal disease ? PubMed: Martin-Merida 2018 - - - Spain - - - - - 1 LOVD
+?/. - c.2029C>T r.(?) p.(Arg677*) Unknown ACMG pathogenic g.55538471C>T - - - RP1_000068 - - - - Germline/De novo (untested) - - - - - DNA SEQ-NG-I - - RP IR_SH_0063 - - M - Korea, South (Republic) - - - - - 1 Jinu Han
+/. 4 c.2029C>T r.(?) p.(Arg677*) Unknown ACMG pathogenic g.55538471C>T g.54625911C>T NM_006269.1:c.2029C>T, NP_006260.1:p.(Arg677Ter), NC_000008.10:g.55538471C>T - RP1_000068 - PubMed: Wang 2018 - - Germline ? - - - - DNA SEQ-NG - panel of 441 hereditary eye disease genes including 291 genes related to IRD retinal disease 2016111405 PubMed: Wang 2018 - M ? China Han Chinese - - - - 1 LOVD
+?/. 4 c.2029C>T r.(?) p.(Arg677*) Unknown - likely pathogenic g.55538471C>T - c.2029C>T - RP1_000068 - PubMed: Sullivan-2013 - - Unknown - - - - - DNA SEQ, PCR blood - retinal disease - PubMed: Sullivan-2013 - - no - - - - - - 1 LOVD
+/. 4 c.2029C>T r.(?) p.(Arg677*) Unknown ACMG pathogenic g.55538471C>T g.54625911C>T c.2029C>T, p.Arg677* - RP1_000068 Heterozygous PubMed: Birtel 2018 - rs104894082 Germline - - - - - DNA SEQ blood - retinal disease 38 PubMed: Birtel 2018 - F - Germany - - - - - 1 LOVD
+?/. 4 c.2029C>T r.(?) p.(Arg677*) Unknown - likely pathogenic g.55538471C>T g.54625911C>T c.2029C>T, p.(Arg677*) - RP1_000068 - PubMed: Nanda 2019 - - Germline - - - - - DNA SEQ-NG-I blood HaloPlex 45 to 111 genes retinal disease 7 PubMed: Nanda 2019 - F - United Kingdom (Great Britain) - - - - - 1 LOVD
+/. - c.2029C>T r.(?) p.(Arg677*) Unknown - pathogenic g.55538471C>T g.54625911C>T RP1 c.2029C>T, p.Arg677Ter - RP1_000068 Located at end of transcript, heterozygous PubMed: Zampaglione 2020 - - Unknown ? - - - - DNA SEQ-NG-I, SEQ blood - retinal disease OGI680_001363 PubMed: Zampaglione 2020 - ? - - - - - - - 1 LOVD
+?/. - c.2029C>T r.(?) p.(Arg677*) Unknown - likely pathogenic g.55538471C>T g.54625911C>T RP1 c.2029C>T, p.R677* - RP1_000068 heterozygous PubMed: Jauregui 2020 - - Unknown ? - - - - DNA SEQ-NG blood targeted sequencing retinal disease 48 PubMed: Jauregui 2020 - M - (United States) white - - - - 1 LOVD
+?/. - c.2029C>T r.(?) p.(Arg677*) Unknown - likely pathogenic g.55538471C>T g.54625911C>T RP1 c.2029C>T, p.Arg677Ter - RP1_000068 heterozygous PubMed: Turro 2020 - - Germline/De novo (untested) ? - - - - DNA SEQ-NG-I blood whole genome sequencing retinal disease G008911 PubMed: Turro 2020 only individuals with mutations in retinal disease genes from this publication were inserted into LOVD ? - - - - - - - 1 LOVD
+/. 4 c.2029C>T r.(?) p.(Arg677*) Unknown ACMG pathogenic g.55538471C>T g.54625911C>T RP1 c.2029C>T, p.(R677*) - RP1_000068 - PubMed: Xiao-2021 - - Unknown yes - - - - DNA SEQ-NG blood gene panel testing retinal disease 191352 PubMed: Xiao-2021 - M - China - - - - - 1 LOVD
+/. 4 c.2029C>T r.(?) p.(Arg677*) Unknown ACMG pathogenic g.55538471C>T g.54625911C>T RP1 c.2029C>T, p.(R677*) - RP1_000068 - PubMed: Xiao-2021 - - Unknown yes - - - - DNA SEQ-NG blood gene panel testing retinal disease 191525 PubMed: Xiao-2021 - M - China - - - - - 1 LOVD
+/. 4 c.2029C>T r.(?) p.(Arg677*) Unknown ACMG pathogenic g.55538471C>T g.54625911C>T RP1 c.2029C>T, p.(R677*) - RP1_000068 - PubMed: Xiao-2021 - - Unknown yes - - - - DNA SEQ-NG blood gene panel testing retinal disease 19961 PubMed: Xiao-2021 - M - China - - - - - 1 LOVD
+/. 4 c.2029C>T r.(?) p.(Arg677*) Unknown - pathogenic (dominant) g.55538471C>T - c.2029C>T - RP1_000068 - PubMed: Colombo-2020 - rs104894082 Germline - - - - - DNA SEQ - - retinal disease - PubMed: Colombo-2020 - F no - - - - - - 1 LOVD
+/. 4 c.2029C>T r.(?) p.(Arg677*) Unknown - pathogenic (dominant) g.55538471C>T - c.2029C>T - RP1_000068 - PubMed: Colombo-2020 - rs104894082 Germline - - - - - DNA SEQ - - retinal disease - PubMed: Colombo-2020 - F no - - - - - - 1 LOVD
+/. - c.2029C>T r.(?) p.(Arg677*) Unknown ACMG pathogenic g.55538471C>T g.54625911C>T RP1 c.[2029C>T];[2029=], V1: c.2029C>T, (p.Arg677Ter) - RP1_000068 heterozygous PubMed: Chen 2021 - - Unknown ? - - - - DNA SEQ-NG blood 212 inherited retinal disease-related genes retinal disease F221 PubMed: Chen 2021 - ? - Taiwan - - - - - 1 LOVD
+?/. - c.2029C>T r.(?) p.(Arg677*) Unknown - likely pathogenic g.55538471C>T g.54625911C>T RP1 c.2029C>T, p.Arg667* - RP1_000068 error in annotation, protein change should be p.Arg677* and not p.Arg667* PubMed: Georgiou 2021 - - Unknown ? - - - - DNA SEQ-NG blood retrospective study retinal disease P15 PubMed: Georgiou 2021 pedigree ID: 21079, genetic ID: 32583 F - (United Kingdom (Great Britain)) - - - - - 1 LOVD
+?/. - c.2029C>T r.(?) p.(Arg677Ter) Unknown - likely pathogenic (dominant) g.55538471C>T g.54625911C>T RP1 c.2029C>T, p.(Arg677Ter) - RP1_000068 heterozygous PubMed: deSousa Dias 2015 - - Germline yes - - - - DNA PCRm, SEQ blood - retinal disease RPN235 PubMed: deSousa Dias 2015 - ? - Spain - - - - - 1 LOVD
+?/. 4 c.2029C>T r.(?) p.(Arg677*) Maternal (inferred) - likely pathogenic (dominant) g.55538471C>T g.54625911C>T RP1 codon: 677, sequence: CGA->TGA, protein: Arg677Ter - RP1_000068 heterozygous PubMed: Pierce 1999 - rs104894082 Germline yes 0/187 control individuals - - - DNA STR, SEQ blood - retinal disease V-1 PubMed: Pierce 1999 Family RP01 F yes United States - - - - - 1 LOVD
+?/. 4 c.2029C>T r.(?) p.(Arg677*) Paternal (inferred) - likely pathogenic (dominant) g.55538471C>T g.54625911C>T RP1 codon: 677, sequence: CGA->TGA, protein: Arg677Ter - RP1_000068 heterozygous PubMed: Pierce 1999 - rs104894082 Germline yes 0/187 control individuals - - - DNA STR, SEQ blood - retinal disease V-10 PubMed: Pierce 1999 Family RP01 F yes United States - - - - - 1 LOVD
+?/. 4 c.2029C>T r.(?) p.(Arg677*) Both (homozygous) - likely pathogenic (dominant) g.55538471C>T g.54625911C>T RP1 codon: 677, sequence: CGA->TGA, protein: Arg677Ter - RP1_000068 homozygous PubMed: Pierce 1999 - rs104894082 Germline yes 0/187 control individuals - - - DNA STR, SEQ blood - retinal disease VI-11 PubMed: Pierce 1999 Family RP01, index patient F yes United States - - - - - 1 LOVD
+?/. 4 c.2029C>T r.(?) p.(Arg677*) Parent #1 - likely pathogenic (dominant) g.55538471C>T g.54625911C>T RP1 codon: 677, sequence: CGA->TGA, protein: Arg677Ter - RP1_000068 heterozygous PubMed: Pierce 1999 - rs104894082 Germline yes 0/187 control individuals - - - DNA STR, SEQ blood - retinal disease VI-12 PubMed: Pierce 1999 Family RP01 M yes United States - - - - - 1 LOVD
+?/. 4 c.2029C>T r.(?) p.(Arg677*) Parent #1 - likely pathogenic (dominant) g.55538471C>T g.54625911C>T RP1 codon: 677, sequence: CGA->TGA, protein: Arg677Ter - RP1_000068 heterozygous PubMed: Pierce 1999 - rs104894082 Germline yes 0/187 control individuals - - - DNA STR, SEQ blood - retinal disease VI-13 PubMed: Pierce 1999 Family RP01 M yes United States - - - - - 1 LOVD
+?/. 4 c.2029C>T r.(?) p.(Arg677*) Both (homozygous) - likely pathogenic (dominant) g.55538471C>T g.54625911C>T RP1 codon: 677, sequence: CGA->TGA, protein: Arg677Ter - RP1_000068 homozygous PubMed: Pierce 1999 - rs104894082 Germline yes 0/187 control individuals - - - DNA STR, SEQ blood - retinal disease VI-16 PubMed: Pierce 1999 Family RP01 M yes United States - - - - - 1 LOVD
+?/. 4 c.2029C>T r.(?) p.(Arg677*) Maternal (inferred) - likely pathogenic (dominant) g.55538471C>T g.54625911C>T RP1 codon: 677, sequence: CGA->TGA, protein: Arg677Ter - RP1_000068 heterozygous PubMed: Pierce 1999 - rs104894082 Germline yes 0/187 control individuals - - - DNA STR, SEQ blood - retinal disease VI-19 PubMed: Pierce 1999 Family RP01 M yes United States - - - - - 1 LOVD
+?/. 4 c.2029C>T r.(?) p.(Arg677*) Paternal (inferred) - likely pathogenic (dominant) g.55538471C>T g.54625911C>T RP1 codon: 677, sequence: CGA->TGA, protein: Arg677Ter - RP1_000068 heterozygous PubMed: Pierce 1999 - rs104894082 Germline yes 0/187 control individuals - - - DNA STR, SEQ blood - retinal disease VI-21 PubMed: Pierce 1999 Family RP01 F yes United States - - - - - 1 LOVD
+?/. 4 c.2029C>T r.(?) p.(Arg677*) Paternal (inferred) - likely pathogenic (dominant) g.55538471C>T g.54625911C>T RP1 codon: 677, sequence: CGA->TGA, protein: Arg677Ter - RP1_000068 heterozygous PubMed: Pierce 1999 - rs104894082 Germline yes 0/187 control individuals - - - DNA STR, SEQ blood - retinal disease VI-23 PubMed: Pierce 1999 Family RP01 M yes United States - - - - - 1 LOVD
+?/. 4 c.2029C>T r.(?) p.(Arg677*) Maternal (inferred) - likely pathogenic (dominant) g.55538471C>T g.54625911C>T RP1 codon: 677, sequence: CGA->TGA, protein: Arg677Ter - RP1_000068 heterozygous PubMed: Pierce 1999 - rs104894082 Germline yes 0/187 control individuals - - - DNA STR, SEQ blood - retinal disease VI-24 PubMed: Pierce 1999 Family RP01 M yes United States - - - - - 1 LOVD
+?/. 4 c.2029C>T r.(?) p.(Arg677*) Paternal (inferred) - likely pathogenic (dominant) g.55538471C>T g.54625911C>T RP1 codon: 677, sequence: CGA->TGA, protein: Arg677Ter - RP1_000068 heterozygous PubMed: Pierce 1999 - rs104894082 Germline yes 0/187 control individuals - - - DNA STR, SEQ blood - retinal disease VI-25 PubMed: Pierce 1999 Family RP01 F yes United States - - - - - 1 LOVD
+?/. 4 c.2029C>T r.(?) p.(Arg677*) Paternal (inferred) - likely pathogenic (dominant) g.55538471C>T g.54625911C>T RP1 codon: 677, sequence: CGA->TGA, protein: Arg677Ter - RP1_000068 heterozygous PubMed: Pierce 1999 - rs104894082 Germline yes 0/187 control individuals - - - DNA STR, SEQ blood - retinal disease VI-26 PubMed: Pierce 1999 Family RP01 M yes United States - - - - - 1 LOVD
+?/. 4 c.2029C>T r.(?) p.(Arg677*) Unknown - likely pathogenic (dominant) g.55538471C>T g.54625911C>T RP1 codon: 677, sequence: CGA->TGA, protein: Arg677Ter - RP1_000068 heterozygous PubMed: Pierce 1999 - rs104894082 Unknown ? 0/187 control individuals - - - DNA SEQ blood - retinal disease 6812 PubMed: Pierce 1999 single index patient ? - - American or Canadian - - - - 1 LOVD
+?/. 4 c.2029C>T r.(?) p.(Arg677*) Unknown - likely pathogenic (dominant) g.55538471C>T g.54625911C>T RP1 codon: 677, sequence: CGA->TGA, protein: Arg677Ter - RP1_000068 heterozygous PubMed: Pierce 1999 - rs104894082 Unknown ? 0/187 control individuals - - - DNA SEQ blood - retinal disease 6159 PubMed: Pierce 1999 single index patient ? - - American or Canadian - - - - 1 LOVD
+?/. 4 c.2029C>T r.(?) p.(Arg677*) Unknown - likely pathogenic (dominant) g.55538471C>T g.54625911C>T RP1 codon: 677, sequence: CGA->TGA, protein: Arg677Ter - RP1_000068 heterozygous PubMed: Pierce 1999 - rs104894082 Unknown ? 0/187 control individuals - - - DNA SEQ blood - retinal disease 6727 PubMed: Pierce 1999 single index patient ? - - American or Canadian - - - - 1 LOVD
+?/. 4 c.2029C>T r.(?) p.(Arg677*) Unknown - likely pathogenic (dominant) g.55538471C>T g.54625911C>T RP1 codon: 677, sequence: CGA->TGA, protein: Arg677Ter - RP1_000068 heterozygous PubMed: Pierce 1999 - rs104894082 Unknown ? 0/187 control individuals - - - DNA SEQ blood - retinal disease 6021 PubMed: Pierce 1999 single index patient ? - - American or Canadian - - - - 1 LOVD
+?/. 4 c.2029C>T r.(?) p.(Arg677*) Unknown - likely pathogenic (dominant) g.55538471C>T g.54625911C>T RP1 codon: 677, sequence: CGA->TGA, protein: Arg677Ter - RP1_000068 heterozygous PubMed: Pierce 1999 - rs104894082 Unknown ? 0/187 control individuals - - - DNA SEQ blood - retinal disease 6254 PubMed: Pierce 1999 single index patient ? - - American or Canadian - - - - 1 LOVD
+?/. 4 c.2029C>T r.(?) p.(Arg677*) Unknown - likely pathogenic (dominant) g.55538471C>T g.54625911C>T RP1 codon: 677, sequence: CGA->TGA, protein: Arg677Ter - RP1_000068 heterozygous PubMed: Pierce 1999 - rs104894082 Unknown ? 0/187 control individuals - - - DNA SEQ blood - retinal disease F357 PubMed: Pierce 1999 single index patient ? - - American or Canadian - - - - 1 LOVD
+?/. 4 c.2029C>T r.(?) p.(Arg677*) Unknown - likely pathogenic (dominant) g.55538471C>T g.54625911C>T RP1 codon: 677, sequence: CGA->TGA, protein: Arg677Ter - RP1_000068 heterozygous PubMed: Pierce 1999 - rs104894082 Unknown ? 0/187 control individuals - - - DNA SEQ blood - retinal disease D744 PubMed: Pierce 1999 single index patient ? - - American or Canadian - - - - 1 LOVD
+?/. 4 c.2029C>T r.(?) p.(Arg677*) Unknown - likely pathogenic (dominant) g.55538471C>T g.54625911C>T RP1 codon: 677, sequence: CGA->TGA, protein: Arg677Ter - RP1_000068 heterozygous PubMed: Pierce 1999 - rs104894082 Unknown ? 0/187 control individuals - - - DNA SEQ blood - retinal disease 6267 PubMed: Pierce 1999 single index patient ? - - American or Canadian - - - - 1 LOVD
+?/. 4 c.2029C>T r.(?) p.(Arg677*) Unknown - likely pathogenic (dominant) g.55538471C>T g.54625911C>T RP1 codon: 677, sequence: CGA->TGA, protein: Arg677Ter - RP1_000068 heterozygous PubMed: Pierce 1999 - rs104894082 Unknown ? 0/187 control individuals - - - DNA SEQ blood - retinal disease 6072 PubMed: Pierce 1999 single index patient ? - - American or Canadian - - - - 1 LOVD
+?/. 4 c.2029C>T r.(?) p.(Arg677*) Unknown - likely pathogenic (dominant) g.55538471C>T g.54625911C>T RP1 codon: 677, sequence: CGA->TGA, protein: Arg677Ter - RP1_000068 heterozygous PubMed: Pierce 1999 - rs104894082 Unknown ? 0/187 control individuals - - - DNA SEQ blood - retinal disease 6161 PubMed: Pierce 1999 single index patient ? - - American or Canadian - - - - 1 LOVD
+?/. 4 c.2029C>T r.(?) p.(Arg677*) Parent #1 - likely pathogenic (dominant) g.55538471C>T g.54625911C>T RP1 codon: 677, sequence: CGA->TGA, protein: R677X - RP1_000068 heterozygous PubMed: Guillonneau 1999 - rs104894082 Germline yes 0/100 control individuals - - - DNA SEQ blood - retinal disease ? PubMed: Guillonneau 1999 RP1 family ? - United States - - - - - 1 LOVD
+?/. 4 c.2029C>T r.(?) p.(Arg677*) Parent #1 - likely pathogenic (dominant) g.55538471C>T g.54625911C>T RP1 codon: 677, sequence: CGA->TGA, protein: R677X - RP1_000068 heterozygous PubMed: Guillonneau 1999 - rs104894082 Germline yes 0/100 control individuals - - - DNA SEQ blood - retinal disease ? PubMed: Guillonneau 1999 RP1 family ? - United States - - - - - 1 LOVD
+?/. 4 c.2029C>T r.(?) p.(Arg677*) Parent #1 - likely pathogenic (dominant) g.55538471C>T g.54625911C>T RP1 codon: 677, sequence: CGA->TGA, protein: R677X - RP1_000068 heterozygous PubMed: Guillonneau 1999 - rs104894082 Germline yes 0/100 control individuals - - - DNA SEQ blood - retinal disease ? PubMed: Guillonneau 1999 RP1 family ? - United States - - - - - 1 LOVD
+?/. 4 c.2029C>T r.(?) p.(Arg677*) Parent #1 - likely pathogenic (dominant) g.55538471C>T g.54625911C>T RP1 codon: 677, sequence: CGA->TGA, protein: R677X - RP1_000068 heterozygous PubMed: Guillonneau 1999 - rs104894082 Germline yes 0/100 control individuals - - - DNA SEQ blood - retinal disease ? PubMed: Guillonneau 1999 RP1 family ? - United States - - - - - 1 LOVD
+?/. 4 c.2029C>T r.(?) p.(Arg677*) Parent #1 - likely pathogenic (dominant) g.55538471C>T g.54625911C>T RP1 codon: 677, sequence: CGA->TGA, protein: R677X - RP1_000068 heterozygous PubMed: Guillonneau 1999 - rs104894082 Germline yes 0/100 control individuals - - - DNA SEQ blood - retinal disease ? PubMed: Guillonneau 1999 RP1 family ? - United States - - - - - 1 LOVD
+?/. 4 c.2029C>T r.(?) p.(Arg677*) Parent #1 - likely pathogenic (dominant) g.55538471C>T g.54625911C>T RP1 codon: 677, sequence: CGA->TGA, protein: R677X - RP1_000068 heterozygous PubMed: Guillonneau 1999 - rs104894082 Germline yes 0/100 control individuals - - - DNA SEQ blood - retinal disease ? PubMed: Guillonneau 1999 RP1 family ? - United States - - - - - 1 LOVD
+?/. 4 c.2029C>T r.(?) p.(Arg677*) Parent #1 - likely pathogenic (dominant) g.55538471C>T g.54625911C>T RP1 codon: 677, sequence: CGA->TGA, protein: R677X - RP1_000068 heterozygous PubMed: Guillonneau 1999 - rs104894082 Germline yes 0/100 control individuals - - - DNA SSCA blood - retinal disease ? PubMed: Guillonneau 1999 RP1 family ? - United States - - - - - 1 LOVD
+?/. 4 c.2029C>T r.(?) p.(Arg677*) Parent #1 - likely pathogenic (dominant) g.55538471C>T g.54625911C>T RP1 codon: 677, sequence: CGA->TGA, protein: R677X - RP1_000068 heterozygous PubMed: Guillonneau 1999 - rs104894082 Germline yes 0/100 control individuals - - - DNA SSCA blood - retinal disease ? PubMed: Guillonneau 1999 RP1 family ? - United States - - - - - 1 LOVD
+?/. 4 c.2029C>T r.(?) p.(Arg677*) Parent #1 - likely pathogenic (dominant) g.55538471C>T g.54625911C>T RP1 codon: 677, sequence: CGA->TGA, protein: R677X - RP1_000068 heterozygous PubMed: Guillonneau 1999 - rs104894082 Germline yes 0/100 control individuals - - - DNA SSCA blood - retinal disease ? PubMed: Guillonneau 1999 RP1 family ? - United States - - - - - 1 LOVD
+?/. 4 c.2029C>T r.(?) p.(Arg677*) Parent #1 - likely pathogenic (dominant) g.55538471C>T g.54625911C>T RP1 codon: 677, sequence: CGA->TGA, protein: R677X - RP1_000068 heterozygous PubMed: Guillonneau 1999 - rs104894082 Germline yes 0/100 control individuals - - - DNA SSCA blood - retinal disease ? PubMed: Guillonneau 1999 RP1 family ? - United States - - - - - 1 LOVD
+?/. 4 c.2029C>T r.(?) p.(Arg677*) Parent #1 - likely pathogenic (dominant) g.55538471C>T g.54625911C>T RP1 codon: 677, sequence: CGA->TGA, protein: R677X - RP1_000068 heterozygous PubMed: Guillonneau 1999 - rs104894082 Germline yes 0/100 control individuals - - - DNA SSCA blood - retinal disease ? PubMed: Guillonneau 1999 RP1 family ? - United States - - - - - 1 LOVD
+?/. 4 c.2029C>T r.(?) p.(Arg677*) Parent #1 - likely pathogenic (dominant) g.55538471C>T g.54625911C>T RP1 codon: 677, sequence: CGA->TGA, protein: R677X - RP1_000068 heterozygous PubMed: Guillonneau 1999 - rs104894082 Germline yes 0/100 control individuals - - - DNA SSCA blood - retinal disease ? PubMed: Guillonneau 1999 RP1 family ? - United States - - - - - 1 LOVD
+?/. 4 c.2029C>T r.(?) p.(Arg677*) Parent #1 - likely pathogenic (dominant) g.55538471C>T g.54625911C>T RP1 codon: 677, sequence: CGA->TGA, protein: R677X - RP1_000068 heterozygous PubMed: Guillonneau 1999 - rs104894082 Germline yes 0/100 control individuals - - - DNA SSCA blood - retinal disease ? PubMed: Guillonneau 1999 RP1 family ? - United States - - - - - 1 LOVD
+?/. 4 c.2029C>T r.(?) p.(Arg677*) Parent #1 - likely pathogenic (dominant) g.55538471C>T g.54625911C>T RP1 codon: 677, sequence: CGA->TGA, protein: R677X - RP1_000068 heterozygous PubMed: Guillonneau 1999 - rs104894082 Germline yes 0/100 control individuals - - - DNA SSCA blood - retinal disease ? PubMed: Guillonneau 1999 RP1 family ? - United States - - - - - 1 LOVD
+?/. 4 c.2029C>T r.(?) p.(Arg677*) Parent #1 - likely pathogenic (dominant) g.55538471C>T g.54625911C>T RP1 codon: 677, sequence: CGA->TGA, protein: R677X - RP1_000068 heterozygous PubMed: Guillonneau 1999 - rs104894082 Germline yes 0/100 control individuals - - - DNA SSCA blood - retinal disease ? PubMed: Guillonneau 1999 RP1 family ? - United States - - - - - 1 LOVD
+?/. 4 c.2029C>T r.(?) p.(Arg677*) Parent #1 - likely pathogenic (dominant) g.55538471C>T g.54625911C>T RP1 codon: 677, sequence: CGA->TGA, protein: R677X - RP1_000068 heterozygous PubMed: Guillonneau 1999 - rs104894082 Germline yes 0/100 control individuals - - - DNA SSCA blood - retinal disease ? PubMed: Guillonneau 1999 RP1 family ? - United States - - - - - 1 LOVD
+?/. 4 c.2029C>T r.(?) p.(Arg677*) Unknown - likely pathogenic (dominant) g.55538471C>T g.54625911C>T RP1 Arg677Ter - RP1_000068 heterozygous; the presence of mutant RP1 mRNA in lympho-blasts from patients with RP1 disease implies that the mutant message can escape nonsense-mediated mRNA decay and that a truncated RP1 protein may be produced in the retina; truncated Rp1-myc protein appears to be nonfunctional, not exerting a dominant negative effect in the photoreceptors of heterozygous mice; mice homozygous for the mutant Rp1-mycallele underwent a rapid-onset retinal degeneration characterized by incorrectly oriented outer segment discs that failed to stack properly into outer segments PubMed: Liu 2003 - rs104894082 In vitro (cloned) ? - - - - DNA ? - - retinal disease ? PubMed: Liu 2003 cell line and mice experiments, lymphoblasts from members of the RP01 pedigree with the Arg677Ter mutation in the RP1 gene ? - - - - - - - 1 LOVD
+?/. 4 c.2029C>T r.(?) p.(Arg677*) Maternal (inferred) - likely pathogenic (dominant) g.55538471C>T g.54625911C>T RP1 R677X - RP1_000068 heterozygous; abstract only PubMed: Zhang 2002 - rs104894082 Germline yes 1/101 - - - DNA CSGE, SEQ blood - retinal disease ? PubMed: Zhang 2002 abstract only ? - China - - - - - 1 LOVD
+?/. 4 c.2029C>T r.(?) p.(Arg677*) Unknown - likely pathogenic (dominant) g.55538471C>T g.54625911C>T RP1 Arg677Ter - RP1_000068 heterozygous; marker analysis confirms de novo origin PubMed: Schwartz 2003 - rs104894082 De novo ? 0/187 control individuals - - - DNA SEQ, SSCA, STR blood - retinal disease II:1 PubMed: Schwartz 2003 - M - United States - - - - - 1 LOVD
+/. 4 c.2029C>T r.(?) p.(Arg677*) Unknown - pathogenic g.55538471C>T g.54625911C>T RP1 2029C>T, R677X - RP1_000068 heterozygous PubMed: Chiang 2006 - - Germline ? - - - - DNA SEQ blood - retinal disease ? PubMed: Chiang 2006 no patient IDs ? - China - - - - - 1 LOVD
+/. 4 c.2029C>T r.(?) p.(Arg677*) Maternal (inferred) - pathogenic (dominant) g.55538471C>T g.54625911C>T RP1 c.2029CT, p.R677X - RP1_000068 heterozygous PubMed: Mukhopadhyay 2011 - rs104894082 Germline yes - - - - DNA SEQ blood - retinal disease IV:4 PubMed: Mukhopadhyay 2011 proband; 4-generation pedigree - the variant is said to be segregating, but no indication who was tested within the family F - United Kingdom (Great Britain) - - - - - 1 LOVD
+/. - c.2029C>T r.(?) p.(Arg677*) Paternal (inferred) - pathogenic (dominant) g.55538471C>T g.54625911C>T RP1 c.2029C>T, p.Arg677* - RP1_000068 heterozygous PubMed: Verbakel 2019 - - Unknown ? - - - - DNA SEQ-NG, SEQ blood whole exome sequencing: vision gene panel analysis retinal disease Q-III:4 PubMed: Verbakel 2019 family Q, proband M - - black - - - - 1 LOVD
+/. - c.2029C>T r.(?) p.(Arg677*) Maternal (inferred) - pathogenic (dominant) g.55538471C>T g.54625911C>T RP1 c.2029C>T, p.Arg677* - RP1_000068 heterozygous PubMed: Verbakel 2019 - - Unknown ? - - - - DNA SEQ-NG, SEQ blood whole exome sequencing: vision gene panel analysis retinal disease R-IV:2 PubMed: Verbakel 2019 family R, proband M - - white - - - - 1 LOVD
+/. - c.2029C>T r.(?) p.(Arg677Ter) Parent #1 - pathogenic g.55538471C>T g.54625911C>T RP1 c.[2029C>T];[2029=]; p.(Arg677Ter) - RP1_000068 heterozygous PubMed: Chen 2021 - - Germline yes Taiwan Biobank: 0; GnomAD_exome_East: 0; GnomAD_All: 0 - - - DNA SEQ-NG - targeted 212 IRD-related genes retinal disease F221 PubMed: Chen 2021 - - - Taiwan - - - - - 1 LOVD
+/. - c.2029C>T r.(?) p.(Arg677Ter) Paternal (inferred) ACMG pathogenic g.55538471C>T g.54625911C>T RP1 c.2029C>T, (p.Arg677Ter) - RP1_000068 heterozygous PubMed: Mizobuchi 2021 - rs104894082 Germline yes - - - - DNA SEQ-NG, SEQ blood whole-exome/whole-genome sequencing retinal disease 1_JU0511/1 PubMed: Mizobuchi 2021 family 1, individual JU0511/1, proband M - Japan Japanese - - - - 1 LOVD
+/. 4 c.2029C>T r.(?) p.(Arg677*) Unknown - pathogenic g.55538471C>T - c.2029C>T - RP1_000068 - PubMed: Panneman 2023 - - Unknown - - - - - DNA SEQ - RP-LCA smMIPs sequencing RP - PubMed: Panneman 2023 - F - - - - - - - 1 Daan Panneman
+/. 4 c.2029C>T r.(?) p.(Arg677*) Unknown - pathogenic g.55538471C>T - c.2029C>T - RP1_000068 - PubMed: Panneman 2023 - - Unknown - - - - - DNA SEQ - RP-LCA smMIPs sequencing RP - PubMed: Panneman 2023 - M - - - - - - - 1 Daan Panneman
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