Full data view for gene PROM1

This database is one of the "Eye disease" gene variant databases.
Information The variants shown are described using the NM_006017.2 transcript reference sequence.

129 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     
?/. 10 c.1117C>T r.(?) p.(Arg373Cys) Unknown - VUS g.16014922G>A g.16013299G>A - - PROM1_000003 - - - - Germline - - - - - DNA SEQ-NG-I - - - - - - - - - - - - - - 1 Christopher Watson
+/+ 10 c.1117C>T r.(?) p.(Arg373Cys) Unknown - pathogenic g.16014922G>A g.16013299G>A - - PROM1_000003 deleterious variant PubMed: Yang 2008 - - Germline - - - - - DNA SEQ - - STGD4 - PubMed: Kniazeva 1999 - - - - Caribbean - - - - 23 Pascal Escher
+/+ 10 c.1117C>T r.(?) p.(Arg373Cys) Unknown - pathogenic g.16014922G>A g.16013299G>A - - PROM1_000003 deleterious variant PubMed: Yang 2008 - - Germline - - - - - DNA SEQ - - MCDR2 - PubMed: Michaelides 2003 - - - United Kingdom (Great Britain) British - - - - 10 Pascal Escher
+/+ 10 c.1117C>T r.(?) p.(Arg373Cys) Unknown - pathogenic g.16014922G>A g.16013299G>A - - PROM1_000003 deleterious variant PubMed: Yang 2008 - - Germline - - - - - DNA SEQ - - ? - Michaelides et al., Submitted - - - Italy Italian - - - - 8 Pascal Escher
+/+ 10 c.1117C>T r.(?) p.(Arg373Cys) Unknown - pathogenic g.16014922G>A g.16013299G>A - - PROM1_000003 deleterious variant Michaelides et al., Submitted - - Germline - - - - - DNA SEQ - - MCDR2 - Michaelides et al., Submitted - - - United Kingdom (Great Britain) British - - - - 3 Pascal Escher
+/+ 10 c.1117C>T r.(?) p.(Arg373Cys) Unknown - pathogenic g.16014922G>A g.16013299G>A - - PROM1_000003 deleterious variant Michaelides et al., Submitted - - Germline - - - - - DNA SEQ - - ARPHM;PVNH2 - Michaelides et al., Submitted - - - United Kingdom (Great Britain) British - - - - 3 Pascal Escher
+/. - c.1117C>T r.(?) p.(Arg373Cys) Unknown - pathogenic g.16014922G>A g.16013299G>A PROM1(NM_001145847.1):c.1090C>T (p.R364C), PROM1(NM_006017.3):c.1117C>T (p.R373C) - PROM1_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1117C>T r.(?) p.(Arg373Cys) Unknown - pathogenic g.16014922G>A g.16013299G>A PROM1(NM_001145847.1):c.1090C>T (p.R364C), PROM1(NM_006017.3):c.1117C>T (p.R373C) - PROM1_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1117C>T r.(?) p.(Arg373Cys) Unknown - pathogenic g.16014922G>A g.16013299G>A PROM1(NM_001145847.1):c.1090C>T (p.R364C), PROM1(NM_006017.3):c.1117C>T (p.R373C) - PROM1_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1117C>T r.(?) p.(Arg373Cys) Unknown - pathogenic g.16014922G>A g.16013299G>A - - PROM1_000003 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 - rs137853006 Germline - 1/1204 cases with retinitis pigmentosa - - - DNA SEQ-NG - - retinal disease - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 analysis 1204 retinitis pigmentosa cases - - Japan - - - - - 1 Yoshito Koyanagi
+?/. 10 c.1117C>T r.(?) p.(Arg373Cys) Parent #1 - likely pathogenic g.16014922G>A g.16013299G>A - - PROM1_000003 - PubMed: Boulanger-Scemama 2015, PubMed: Boulanger-Scemama 2019 - rs137853006 Germline - - - - - DNA SEQ, SEQ-NG - 123 gene panel retinal disease CIC00535 PubMed: Boulanger-Scemama 2015, PubMed: Boulanger-Scemama 2019 - - - France - - - - - 1 Global Variome, with Curator vacancy
+/. - c.1117C>T r.(?) p.(Arg373Cys) Parent #1 ACMG pathogenic (dominant) g.16014922G>A - - - PROM1_000003 - PubMed: Kim 2019 - - Germline - 1/86 cases - - - DNA SEQ, SEQ-NG - 204 gene panel retinal disease - PubMed: Kim 2019 - - - Korea - - - - - 1 Global Variome, with Curator vacancy
+/. - c.1117C>T r.(?) p.(Arg373Cys) Parent #1 - pathogenic g.16014922G>A g.16013299G>A - - PROM1_000003 - PubMed: Zenteno 2020 - - Germline - 1/143 cases - - - DNA SEQ, SEQ-NG - 199 gene panel retinal disease EC07 PubMed: Zenteno 2020 - - - Mexico - - - - - 1 Johan den Dunnen
+/. - c.1117C>T r.(?) p.(Arg373Cys) Parent #1 - pathogenic g.16014922G>A g.16013299G>A - - PROM1_000003 - PubMed: Zenteno 2020 - - Germline - 1/143 cases - - - DNA SEQ, SEQ-NG - 199 gene panel retinal disease 4079 PubMed: Zenteno 2020 - - - Mexico - - - - - 1 Johan den Dunnen
+/. - c.1117C>T r.(?) p.(Arg373Cys) Unknown - pathogenic (recessive) g.16014922G>A - 4:16014922G>A ENST00000510224.1:c.1117C>T (Arg373Cys) - PROM1_000003 - PubMed: Carss 2017 - - Germline - - - - - DNA SEQ-NG - WES retinal disease B240022 PubMed: Carss 2017 - F - United Kingdom (Great Britain) - - - - - 1 LOVD
+/. - c.1117C>T r.(?) p.(Arg373Cys) Unknown - pathogenic g.16014922G>A - 4:16014922G>A ENST00000510224.1:c.1117C>T (Arg373Cys) - PROM1_000003 - PubMed: Carss 2017 - - Germline - - - - - DNA SEQ-NG - WGS retinal disease W000382 PubMed: Carss 2017 - M - United Kingdom (Great Britain) Europe - - - - 1 LOVD
+/. 10 c.1117C>T r.(?) p.(Arg373Cys) Parent #1 - pathogenic (dominant) g.16014922G>A g.16013299G>A - - PROM1_000003 - PubMed: Birtel 2018 - - Germline - - - - - DNA SEQ-NG - - retinal disease Pat185 PubMed: Birtel 2018 family M - Germany - - - - - 1 LOVD
+/. 10 c.1117C>T r.(?) p.(Arg373Cys) Parent #1 - pathogenic g.16014922G>A g.16013299G>A C1117T - PROM1_000003 - PubMed: Sheremet 2017 - rs137853006 Germline - - - - - DNA SEQ peripheral blood lymphocytes - retinal disease Pat20-I PubMed: Sheremet 2017 family, 2 affected F - Russia - - - - - 2 LOVD
+/. 10 c.1117C>T r.(?) p.(Arg373Cys) Parent #1 - pathogenic g.16014922G>A g.16013299G>A C1117T - PROM1_000003 - PubMed: Sheremet 2017 - rs137853006 Germline - - - - - DNA SEQ peripheral blood lymphocytes - retinal disease Pat21-II PubMed: Sheremet 2017 - F - Russia - - - - - 1 LOVD
+?/. - c.1117C>T r.(?) p.(Arg373Cys) Unknown - likely pathogenic g.16014922G>A g.16013299G>A - - PROM1_000003 - PubMed: Stone 2017 - - Germline - - - - - DNA SEQ-NG - - retinal disease 352 PubMed: Stone 2017 1 affected F - (United States) - - - - - 1 LOVD
+?/. - c.1117C>T r.(?) p.(Arg373Cys) Unknown - likely pathogenic g.16014922G>A g.16013299G>A - - PROM1_000003 - PubMed: Stone 2017 - - Germline - - - - - DNA SEQ-NG - - retinal disease 879 PubMed: Stone 2017 family, 2 affected F - (United States) - - - - - 2 LOVD
+?/. - c.1117C>T r.(?) p.(Arg373Cys) Unknown - likely pathogenic g.16014922G>A g.16013299G>A - - PROM1_000003 - PubMed: Stone 2017 - - Germline - - - - - DNA SEQ-NG - - retinal disease 912 PubMed: Stone 2017 family, 4 affected F - (United States) - - - - - 4 LOVD
+?/. - c.1117C>T r.(?) p.(Arg373Cys) Unknown - likely pathogenic g.16014922G>A g.16013299G>A - - PROM1_000003 - PubMed: Stone 2017 - - Germline - - - - - DNA SEQ-NG - - retinal disease 913 PubMed: Stone 2017 family, 8 affected F - (United States) - - - - - 8 LOVD
+/. 12 c.1117C>T r.(?) p.(Arg373Cys) Parent #1 ACMG pathogenic (dominant) g.16014922G>A g.16013299G>A - - PROM1_000003 - PubMed: Van Cauwenbergh 2017 - - Germline yes - - - - DNA arraySNP, SEQ - - retinal disease FAM_045 PubMed: Van Cauwenbergh 2017 - - - Belgium - - - - - 1 LOVD
+/. 12 c.1117C>T r.(?) p.(Arg373Cys) Parent #1 ACMG pathogenic (dominant) g.16014922G>A g.16013299G>A - - PROM1_000003 - PubMed: Van Cauwenbergh 2017 - - Germline yes - - - - DNA arraySNP, SEQ - - retinal disease FAM_046 PubMed: Van Cauwenbergh 2017 - - - Belgium - - - - - 1 LOVD
+/. 12 c.1117C>T r.(?) p.(Arg373Cys) Parent #1 ACMG pathogenic (dominant) g.16014922G>A g.16013299G>A - - PROM1_000003 - PubMed: Van Cauwenbergh 2017 - - Germline yes - - - - DNA arraySNP, SEQ - - retinal disease FAM_047 PubMed: Van Cauwenbergh 2017 - - - Belgium - - - - - 1 LOVD
+?/. - c.1117C>T r.(?) p.(Arg373Cys) Parent #1 - likely pathogenic g.16014922G>A g.16013299G>A - - PROM1_000003 - PubMed: Oishi 2016 - rs137853006 Germline - - - - - DNA SEQ-NG - gene panel retinal disease K6073/K6205 PubMed: Oishi 2016 4-generation family, 5 affected (5F) F - Japan - - - - - 5 LOVD
+?/. - c.1117C>T r.(?) p.(Arg373Cys) Parent #1 - likely pathogenic (dominant) g.16014922G>A g.16013299G>A - - PROM1_000003 - PubMed: Weisschuh 2016 - - Germline - - - - - DNA SEQ-NG - gene panel, WES retinal disease RCD 82 PubMed: Weisschuh 2016 family - - Germany - - - - - 1 LOVD
+?/. - c.1117C>T r.(?) p.(Arg373Cys) Parent #1 - likely pathogenic (dominant) g.16014922G>A g.16013299G>A - - PROM1_000003 - PubMed: Weisschuh 2016 - - Germline - - - - - DNA SEQ-NG - gene panel retinal disease RCD512 PubMed: Weisschuh 2016 family - - Germany - - - - - 1 LOVD
+/. - c.1117C>T r.(?) p.(Arg373Cys) Unknown - pathogenic g.16014922G>A g.16013299G>A - - PROM1_000003 - PubMed: Ge 2015 - - Germline - - - - - DNA SEQ-NG - 195-gene panel retinal disease N6+A.15 PubMed: Ge 2015 simplex case - - United States - - - - - 1 LOVD
+?/. - c.1117C>T r.(?) p.(Arg373Cys) Parent #1 - likely pathogenic g.16014922G>A g.16013299G>A - - PROM1_000003 - PubMed: Huang 2015 - - Germline yes - - - - DNA SEQ-NG - 284 gene panel retinal disease W92-1 PubMed: Huang 2015 - M - China - - - - - 1 LOVD
+?/. - c.1117C>T r.(?) p.(Arg373Cys) Parent #1 - likely pathogenic g.16014922G>A g.16013299G>A - - PROM1_000003 - PubMed: Huang 2015 - - Germline yes - - - - DNA SEQ-NG - 284 gene panel retinal disease W142-1 PubMed: Huang 2015 - M - China - - - - - 1 LOVD
+/. - c.1117C>T r.(?) p.(Arg373Cys) Parent #1 - pathogenic g.16014922G>A g.16013299G>A - - PROM1_000003 - PubMed: Watson 2014 - - Germline - - - - - DNA SEQ-NG - 162-gene panel retinal disease MA7 PubMed: Watson 2014 family - - United Kingdom (Great Britain) - - - - - 1 LOVD
+?/. 12 c.1117C>T r.(?) p.(Arg373Cys) Unknown - likely pathogenic g.16014922G>A g.16013299G>A - - PROM1_000003 - 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.1117C>T r.(?) p.(Arg373Cys) Unknown ACMG VUS g.16014922G>A - - - PROM1_000003 - - - - Germline/De novo (untested) - - - - - DNA SEQ-NG-I - - RP IR_SH_0012 - - M - Korea, South (Republic) - - - - - 1 Jinu Han
+?/. 10 c.1117C>T r.(?) p.(Arg373Cys) Unknown - likely pathogenic g.16014922G>A - c.1117C>T - PROM1_000003 - PubMed: O'Sullivan-2012 - - Unknown - - - - - DNA SEQ-NG blood - retinal disease - PubMed: O'Sullivan-2012 - - - United Kingdom (Great Britain) - - - - - 1 LOVD
+/. 10 c.1117C>T r.(?) p.(Arg373Cys) Unknown - pathogenic g.16014922G>A - p.PROM1-R373C - PROM1_000003 - PubMed: Schorderet-2013 - - Germline yes - - - - DNA SEQ-NG, SEQp blood targeted exon capture/IROme assay retinal disease - PubMed: Schorderet-2013 - - - Switzerland Swiss, Algerian or Tunisian - - - - 1 LOVD
+?/. - c.1117C>T r.(?) p.(Arg373Cys) Unknown - likely pathogenic g.16014922G>A g.16013299G>A c.1117C-->T; p.Arg373Cys - PROM1_000003 no Sanger sequencing; heterozygous PubMed: Patel 2019 - - Germline ? - - - - DNA SEQ-NG blood - MCDR2 325 PubMed: Patel 2019 - ? - United Kingdom (Great Britain) - - - - - 1 LOVD
+/. - c.1117C>T r.(?) p.(Arg373Cys) Unknown ACMG pathogenic g.16014922G>A g.16013299G>A PROM1 c.1117C>T, p.(Arg373Cys) - PROM1_000003 - PubMed: Jespersgaar 2019 - - Germline ? - - - - DNA SEQ-NG-I blood 125 genes associated with inherited retinal disorders, see paper supplemental data retinal disease 175 PubMed: Jespersgaar 2019 - ? - Denmark - - - - - 1 LOVD
+/. - c.1117C>T r.(?) p.(Arg373Cys) Unknown ACMG pathogenic g.16014922G>A g.16013299G>A PROM1 c.1117C>T, p.(Arg373Cys) - PROM1_000003 - PubMed: Jespersgaar 2019 - - Germline ? - - - - DNA SEQ-NG-I blood 125 genes associated with inherited retinal disorders, see paper supplemental data retinal disease 177 PubMed: Jespersgaar 2019 - ? - Denmark - - - - - 1 LOVD
+/. - c.1117C>T r.(?) p.(Arg373Cys) Unknown ACMG pathogenic g.16014922G>A g.16013299G>A PROM1 c.1117C>T, p.R373C - PROM1_000003 - PubMed: Kim 2019 - - Germline ? - - - - DNA SEQ-NG-I blood 204 genes associated with inherited retinal disorders, see paper retinal disease ? PubMed: Kim 2019 - ? - Korea, South (Republic) - - - - - 1 LOVD
+?/. 10 c.1117C>T r.(?) p.(Arg373Cys) Unknown - likely pathogenic g.16014922G>A g.16013299G>A c.1117C>T, p.Arg373Cys - PROM1_000003 solved, heterozygous PubMed: Del Pozo-Valero - - Germline ? - - - - DNA SEQ-NG blood this cohort was screened with arraySNP (ASPER Ophthalmics), targeted gene panels, clinical/whole exome sequencing retinal disease RP-2604_III:1 PubMed: Del Pozo-Valero individual ID family_patient or only family number for probands with unknown pedigree ? - Spain - - - - - 1 LOVD
+?/. - c.1117C>T r.(?) p.(Arg373Cys) Unknown - likely pathogenic g.16014922G>A g.16013299G>A c.1117C>T, p.Arg373Cys - PROM1_000003 heterozygous PubMed: Gao 2019 - - Germline ? - - - - DNA SEQ-NG - - retinal disease RD18081320_A PubMed: Gao 2019 - ? - China - - - - - 1 LOVD
+?/. - c.1117C>T r.(?) p.(Arg373Cys) Unknown - likely pathogenic g.16014922G>A g.16013299G>A c.1117C>T, p.Arg373Cys - PROM1_000003 heterozygous PubMed: Gao 2019 - - Germline ? - - - - DNA SEQ-NG - - retinal disease RD18081321_A PubMed: Gao 2019 - ? - China - - - - - 1 LOVD
+?/. - c.1117C>T r.(?) p.(Arg373Cys) Unknown - likely pathogenic g.16014922G>A g.16013299G>A c.1117C>T, r.(?) - PROM1_000003 different transcript, ENST00000447510: 70: heterozygous PubMed: Wolock 2019 - - Germline - - - - - DNA SEQ-NG-I - - retinal disease 3459 PubMed: Wolock 2019 - - - United States - - - - - 1 LOVD
+?/. - c.1117C>T r.(?) p.(Arg373Cys) Unknown - likely pathogenic g.16014922G>A g.16013299G>A c.1090C>T, p.(Arg364Cys) - PROM1_000003 different transcript: NM_001145847.1(PROM1):c.1090C>T, heterozygous PubMed: Wang 2019 - - Germline yes - - - - DNA SEQ-NG blood panel of 126 genes retinal disease 14435 PubMed: Wang 2019 - M - China - - - - - 1 LOVD
+?/. - c.1117C>T r.(?) p.(Arg373Cys) Unknown - likely pathogenic g.16014922G>A g.16013299G>A c.1090C>T, p.(Arg364Cys) - PROM1_000003 different transcript: NM_001145847.1(PROM1):c.1090C>T, heterozygous PubMed: Wang 2019 - - Germline ? - - - - DNA SEQ-NG blood panel of 126 genes retinal disease 14540 PubMed: Wang 2019 - F - China - - - - - 1 LOVD
+?/. - c.1117C>T r.(?) p.(Arg373Cys) Parent #1 - likely pathogenic g.16014922G>A g.16013299G>A PROM1, variant 1: c.1117C>T/p.R373C - PROM1_000003 solved, heterozygous PubMed: Weisschuh 2020 - - Unknown ? - - - - DNA SEQ-NG blood RET4 targeted sequencing panel - see paper retinal disease 722 PubMed: Weisschuh 2020 Filing key number: 270, Stargardt Disease, no patient Ids, consecutive numbers given M - Germany - - - - - 1 LOVD
+?/. - c.1117C>T r.(?) p.(Arg373Cys) Parent #1 - likely pathogenic g.16014922G>A g.16013299G>A PROM1, variant 1: c.1117C>T/p.R373C - PROM1_000003 solved, heterozygous PubMed: Weisschuh 2020 - - Unknown ? - - - - DNA SEQ-NG blood RET9 targeted sequencing panel - see paper retinal disease 845 PubMed: Weisschuh 2020 Filing key number: 348, cone-rod dystrophy, no patient Ids, consecutive numbers given M - Germany - - - - - 1 LOVD
+?/. - c.1117C>T r.(?) p.(Arg373Cys) Parent #1 - likely pathogenic g.16014922G>A g.16013299G>A PROM1, variant 1: c.1117C>T/p.R373C - PROM1_000003 solved, heterozygous PubMed: Weisschuh 2020 - - Germline yes - - - - DNA SEQ blood Sanger sequencing retinal disease 860 PubMed: Weisschuh 2020 Filing key number: 355, autosomal dominant retinitis pigmentosa, no patient Ids, consecutive numbers given F - Germany - - - - - 1 LOVD
+?/. - c.1117C>T r.(?) p.(Arg373Cys) Parent #1 - likely pathogenic g.16014922G>A g.16013299G>A PROM1, variant 1: c.1117C>T/p.R373C - PROM1_000003 solved, heterozygous PubMed: Weisschuh 2020 - - Germline yes - - - - DNA SEQ-NG blood RET4 targeted sequencing panel - see paper retinal disease 861 PubMed: Weisschuh 2020 Filing key number: 355, autosomal dominant retinitis pigmentosa, no patient Ids, consecutive numbers given F - Germany - - - - - 1 LOVD
+?/. - c.1117C>T r.(?) p.(Arg373Cys) Parent #1 - likely pathogenic g.16014922G>A g.16013299G>A PROM1, variant 1: c.1117C>T/p.R373C - PROM1_000003 solved, heterozygous PubMed: Weisschuh 2020 - - Unknown ? - - - - DNA SEQ-NG blood RET9 targeted sequencing panel - see paper retinal disease 882 PubMed: Weisschuh 2020 Filing key number: 368, macular dystrophy, no patient Ids, consecutive numbers given F - Germany - - - - - 1 LOVD
+?/. - c.1117C>T r.(?) p.(Arg373Cys) Parent #1 - likely pathogenic g.16014922G>A g.16013299G>A PROM1, variant 1: c.1117C>T/p.R373C - PROM1_000003 solved, heterozygous PubMed: Weisschuh 2020 - - Unknown ? - - - - DNA SEQ-NG blood RET6 targeted sequencing panel - see paper retinal disease 1026 PubMed: Weisschuh 2020 Filing key number: 549, cone dystrophy, no patient Ids, consecutive numbers given F - Germany - - - - - 1 LOVD
+?/. - c.1117C>T r.(?) p.(Arg373Cys) Parent #1 - likely pathogenic g.16014922G>A g.16013299G>A PROM1, variant 1: c.1117C>T/p.R373C - PROM1_000003 solved, heterozygous PubMed: Weisschuh 2020 - - Germline yes - - - - DNA SEQ-NG blood RET8 targeted sequencing panel - see paper retinal disease 1075 PubMed: Weisschuh 2020 Filing key number: 703, cone-rod dystrophy, no patient Ids, consecutive numbers given M - Germany - - - - - 1 LOVD
+?/. - c.1117C>T r.(?) p.(Arg373Cys) Parent #1 - likely pathogenic g.16014922G>A g.16013299G>A PROM1, variant 1: c.1117C>T/p.R373C - PROM1_000003 solved, heterozygous PubMed: Weisschuh 2020 - - Germline yes - - - - DNA SEQ blood Sanger sequencing retinal disease 1076 PubMed: Weisschuh 2020 Filing key number: 703, cone-rod dystrophy, no patient Ids, consecutive numbers given M - Germany - - - - - 1 LOVD
+?/. - c.1117C>T r.(?) p.(Arg373Cys) Unknown - likely pathogenic (dominant) g.16014922G>A g.16013299G>A PROM1 c.1117C > T , p.(Arg373Cys) - PROM1_000003 - PubMed: Hu 2020 - - Germline yes - - - - DNA SEQ-NG blood panel-based next-generation sequencing STGD F10:III:1 PubMed: Hu 2020 has an affected mother with the same mutation M no China - - - - - 2 Anna Tracewska
+?/. - c.1117C>T r.(?) p.(Arg373Cys) Unknown - likely pathogenic g.16014922G>A g.16013299G>A PROM1 c.1117C>T, p.Arg373Cys - PROM1_000003 heterozygous PubMed: Turro 2020 - - Germline/De novo (untested) ? - - - - DNA SEQ-NG-I blood whole genome sequencing retinal disease W000382 PubMed: Turro 2020 only individuals with mutations in retinal disease genes from this publication were inserted into LOVD ? - - - - - - - 1 LOVD
+?/. 10 c.1117C>T r.(?) p.(Arg373Cys) Unknown - likely pathogenic g.16014922G>A g.16013299G>A PROM1 c.1117>T, p.Arg373Cys - PROM1_000003 error in annotation, reference nucleotide was missing, heterozygous PubMed: Gliem 2020 - - Unknown ? - - - - DNA SEQ-NG-I blood whole exome sequencing retinal disease 142 PubMed: Gliem 2020 - F - (Germany) - - - - - 1 LOVD
+?/. 10 c.1117C>T r.(?) p.(Arg373Cys) Unknown - likely pathogenic g.16014922G>A g.16013299G>A PROM1 c.1117>T, p.Arg373Cys - PROM1_000003 error in annotation, reference nucleotide was missing, heterozygous PubMed: Gliem 2020 - - Unknown ? - - - - DNA SEQ-NG-I blood whole exome sequencing retinal disease 144 PubMed: Gliem 2020 - F - (Germany) - - - - - 1 LOVD
+?/. 10 c.1117C>T r.? p.(Arg373Cys) Unknown - likely pathogenic (dominant) g.16014922G>A - c.1117C>T - PROM1_000003 - PubMed: Liu-2020 - - Germline - - - - - DNA SEQ-NG - hereditary eye disease enrichment panel (HEDEP) retinal disease - PubMed: Liu-2020 - F - - - - - - - 1 LOVD
+?/. - c.1117C>T r.(?) p.(Arg373Cys) Unknown - likely pathogenic (dominant) g.16014922G>A g.16013299G>A PROM1 c.1117C>T, p.Arg373Cys - PROM1_000003 heterozygous PubMed: Kohl 2012 - - Unknown ? - - - - DNA SEQ blood - retinal disease ? PubMed: Kohl 2012 - ? - Germany - - - - - 1 LOVD
+?/. 8 c.1117C>T r.(?) p.(Arg373Cys) Unknown - likely pathogenic (dominant) g.16014922G>A g.16013299G>A PROM1 R373C - PROM1_000003 heterozygous PubMed: Michaelides 2010 - - Germline yes - - - - DNA SEQ blood - retinal disease CII:1 PubMed: Michaelides 2010 proband F - - - - - - - 1 LOVD
+?/. 8 c.1117C>T r.(?) p.(Arg373Cys) Maternal (confirmed) - likely pathogenic (dominant) g.16014922G>A g.16013299G>A PROM1 R373C - PROM1_000003 heterozygous PubMed: Michaelides 2010 - - Germline yes - - - - DNA SEQ blood - retinal disease CIII:1 PubMed: Michaelides 2010 proband's daughter 1 F - - - - - - - 1 LOVD
+?/. 8 c.1117C>T r.(?) p.(Arg373Cys) Maternal (confirmed) - likely pathogenic (dominant) g.16014922G>A g.16013299G>A PROM1 R373C - PROM1_000003 heterozygous PubMed: Michaelides 2010 - - Germline yes - - - - DNA SEQ blood - retinal disease CIII:3 PubMed: Michaelides 2010 proband's daughter 2 F - - - - - - - 1 LOVD
+?/. 8 c.1117C>T r.(?) p.(Arg373Cys) Maternal (confirmed) - likely pathogenic (dominant) g.16014922G>A g.16013299G>A PROM1 R373C - PROM1_000003 heterozygous PubMed: Michaelides 2010 - - Germline yes - - - - DNA SEQ blood - retinal disease CIII:6 PubMed: Michaelides 2010 proband's daughter 3 F - - - - - - - 1 LOVD
+?/. 8 c.1117C>T r.(?) p.(Arg373Cys) Maternal (confirmed) - likely pathogenic (dominant) g.16014922G>A g.16013299G>A PROM1 R373C - PROM1_000003 heterozygous PubMed: Michaelides 2010 - - Germline yes - - - - DNA SEQ blood - retinal disease CIV:1 PubMed: Michaelides 2010 proband's granddaughter 1 F - - - - - - - 1 LOVD
+?/. 8 c.1117C>T r.(?) p.(Arg373Cys) Maternal (confirmed) - likely pathogenic (dominant) g.16014922G>A g.16013299G>A PROM1 R373C - PROM1_000003 heterozygous PubMed: Michaelides 2010 - - Germline yes - - - - DNA SEQ blood - retinal disease CIV:5 PubMed: Michaelides 2010 proband's granddaughter 2 F - - - - - - - 1 LOVD
+?/. 8 c.1117C>T r.(?) p.(Arg373Cys) Paternal (inferred) - likely pathogenic (dominant) g.16014922G>A g.16013299G>A PROM1 R373C - PROM1_000003 heterozygous PubMed: Michaelides 2010 - - Germline yes - - - - DNA SEQ blood - retinal disease DII:2 PubMed: Michaelides 2010 proband's mother F - - - - - - - 1 LOVD
+?/. 8 c.1117C>T r.(?) p.(Arg373Cys) Maternal (confirmed) - likely pathogenic (dominant) g.16014922G>A g.16013299G>A PROM1 R373C - PROM1_000003 heterozygous PubMed: Michaelides 2010 - - Germline yes - - - - DNA SEQ blood - retinal disease DIII:1 PubMed: Michaelides 2010 proband F - - - - - - - 1 LOVD
+?/. 8 c.1117C>T r.(?) p.(Arg373Cys) Paternal (inferred) - likely pathogenic (dominant) g.16014922G>A g.16013299G>A PROM1 R373C - PROM1_000003 heterozygous PubMed: Michaelides 2010 - - Germline yes - - - - DNA SEQ blood - retinal disease EIII:1 PubMed: Michaelides 2010 proband F - - - - - - - 1 LOVD
+?/. 8 c.1117C>T r.(?) p.(Arg373Cys) Paternal (inferred) - likely pathogenic (dominant) g.16014922G>A g.16013299G>A PROM1 R373C - PROM1_000003 heterozygous PubMed: Michaelides 2010 - - Germline yes - - - - DNA SEQ blood - retinal disease EIII:3 PubMed: Michaelides 2010 proband's sister F - - - - - - - 1 LOVD
+?/. 8 c.1117C>T r.(?) p.(Arg373Cys) Unknown - likely pathogenic (dominant) g.16014922G>A g.16013299G>A PROM1 R373C - PROM1_000003 heterozygous PubMed: Arrigoni 2011 - - Germline yes - - - - DNA SEQ blood - retinal disease A-III:6 PubMed: Arrigoni 2011 maternal grandmother F - - - - - - - 1 LOVD
+?/. 8 c.1117C>T r.(?) p.(Arg373Cys) Unknown - likely pathogenic (dominant) g.16014922G>A g.16013299G>A PROM1 R373C - PROM1_000003 heterozygous PubMed: Arrigoni 2011 - - Germline yes - - - - DNA SEQ blood - retinal disease A-IV:4 PubMed: Arrigoni 2011 maternal aunt F - - - - - - - 1 LOVD
+?/. 8 c.1117C>T r.(?) p.(Arg373Cys) Unknown - likely pathogenic (dominant) g.16014922G>A g.16013299G>A PROM1 R373C - PROM1_000003 heterozygous PubMed: Arrigoni 2011 - - Germline yes - - - - DNA SEQ blood - retinal disease A-IV:2 PubMed: Arrigoni 2011 mother F - - - - - - - 1 LOVD
+?/. 8 c.1117C>T r.(?) p.(Arg373Cys) Unknown - likely pathogenic (dominant) g.16014922G>A g.16013299G>A PROM1 R373C - PROM1_000003 heterozygous PubMed: Arrigoni 2011 - - Germline yes - - - - DNA SEQ blood - retinal disease A-V:1 PubMed: Arrigoni 2011 proband - - - - - - - - 1 LOVD
+?/. 8 c.1117C>T r.(?) p.(Arg373Cys) Unknown - likely pathogenic (dominant) g.16014922G>A g.16013299G>A PROM1 R373C - PROM1_000003 heterozygous PubMed: Arrigoni 2011 - - Germline yes - - - - DNA SEQ blood - retinal disease B-I:1 PubMed: Arrigoni 2011 mother F - - - - - - - 1 LOVD
+?/. 8 c.1117C>T r.(?) p.(Arg373Cys) Unknown - likely pathogenic (dominant) g.16014922G>A g.16013299G>A PROM1 R373C - PROM1_000003 heterozygous PubMed: Arrigoni 2011 - - Germline yes - - - - DNA SEQ blood - retinal disease B-II:1 PubMed: Arrigoni 2011 daughter F - - - - - - - 1 LOVD
+?/. 8 c.1117C>T r.(?) p.(Arg373Cys) Unknown - likely pathogenic (dominant) g.16014922G>A g.16013299G>A PROM1 p.R373C - PROM1_000003 heterozygous PubMed: Kim 2017 - - Germline ? - - - - DNA SEQ-NG-I, SEQ blood panel sequencing retinal disease ? PubMed: Kim 2017 - M - - - - - - - 1 LOVD
+?/. - c.1117C>T r.(?) p.(Arg373Cys) Unknown - likely pathogenic g.16014922G>A g.16013299G>A PROM1 c.1117C>T - PROM1_000003 heterozygous PubMed: Strauss 2018 - - Unknown ? - - - - DNA ? - retrospective study retinal disease 1 PubMed: Strauss 2018 - - - - - - - - - 1 LOVD
+?/. - c.1117C>T r.(?) p.(Arg373Cys) Unknown - likely pathogenic g.16014922G>A g.16013299G>A PROM1 c.1117C>T - PROM1_000003 heterozygous PubMed: Strauss 2018 - - Unknown ? - - - - DNA ? - retrospective study retinal disease 2 PubMed: Strauss 2018 - - - - - - - - - 1 LOVD
+?/. - c.1117C>T r.(?) p.(Arg373Cys) Unknown - likely pathogenic g.16014922G>A g.16013299G>A PROM1 c.1117C>T - PROM1_000003 heterozygous PubMed: Strauss 2018 - - Unknown ? - - - - DNA ? - retrospective study retinal disease 3 PubMed: Strauss 2018 - - - - - - - - - 1 LOVD
+?/. - c.1117C>T r.(?) p.(Arg373Cys) Unknown - likely pathogenic g.16014922G>A g.16013299G>A PROM1 c.1117C>T - PROM1_000003 heterozygous PubMed: Strauss 2018 - - Unknown ? - - - - DNA ? - retrospective study retinal disease 4 PubMed: Strauss 2018 - - - - - - - - - 1 LOVD
+?/. - c.1117C>T r.(?) p.(Arg373Cys) Unknown - likely pathogenic g.16014922G>A g.16013299G>A PROM1 c.1117C>T - PROM1_000003 heterozygous PubMed: Strauss 2018 - - Unknown ? - - - - DNA ? - retrospective study retinal disease 7 PubMed: Strauss 2018 - - - - - - - - - 1 LOVD
+?/. - c.1117C>T r.(?) p.(Arg373Cys) Unknown - likely pathogenic g.16014922G>A g.16013299G>A PROM1 c.1117C>T - PROM1_000003 heterozygous PubMed: Strauss 2018 - - Unknown ? - - - - DNA ? - retrospective study retinal disease 8 PubMed: Strauss 2018 - - - - - - - - - 1 LOVD
+?/. - c.1117C>T r.(?) p.(Arg373Cys) Unknown - likely pathogenic g.16014922G>A g.16013299G>A PROM1 c.1117C>T - PROM1_000003 heterozygous PubMed: Strauss 2018 - - Unknown ? - - - - DNA ? - retrospective study retinal disease 9 PubMed: Strauss 2018 - - - - - - - - - 1 LOVD
+?/. - c.1117C>T r.(?) p.(Arg373Cys) Unknown - likely pathogenic g.16014922G>A g.16013299G>A PROM1 c.1117C>T - PROM1_000003 heterozygous PubMed: Strauss 2018 - - Unknown ? - - - - DNA ? - retrospective study retinal disease 13 PubMed: Strauss 2018 - - - - - - - - - 1 LOVD
+?/. - c.1117C>T r.(?) p.(Arg373Cys) Unknown - likely pathogenic g.16014922G>A g.16013299G>A PROM1 c.1117C>T - PROM1_000003 heterozygous PubMed: Strauss 2018 - - Unknown ? - - - - DNA ? - retrospective study retinal disease 14 PubMed: Strauss 2018 - - - - - - - - - 1 LOVD
+?/. - c.1117C>T r.(?) p.(Arg373Cys) Unknown - likely pathogenic g.16014922G>A g.16013299G>A PROM1 c.1117C>T - PROM1_000003 heterozygous PubMed: Strauss 2018 - - Unknown ? - - - - DNA ? - retrospective study retinal disease 15 PubMed: Strauss 2018 - - - - - - - - - 1 LOVD
+?/. - c.1117C>T r.(?) p.(Arg373Cys) Unknown - likely pathogenic g.16014922G>A g.16013299G>A PROM1 c.1117C>T - PROM1_000003 heterozygous PubMed: Strauss 2018 - - Unknown ? - - - - DNA ? - retrospective study retinal disease 18 PubMed: Strauss 2018 - - - - - - - - - 1 LOVD
+?/. - c.1117C>T r.(?) p.(Arg373Cys) Unknown ACMG pathogenic g.16014922G>A g.16013299G>A PROM1 c.1117C>T, p.Arg373Cys - PROM1_000003 heterozygous PubMed: Cehajic-Kapetanovic 2019 - - Unknown ? - - - - DNA SEQ-NG, SEQ - customized HaloPlex enrichment system kit - 117 retinal genes retinal disease AD1 PubMed: Cehajic-Kapetanovic 2019 - F - - - - - - - 1 LOVD
+?/. - c.1117C>T r.(?) p.(Arg373Cys) Unknown ACMG pathogenic g.16014922G>A g.16013299G>A PROM1 c.1117C>T, p.Arg373Cys - PROM1_000003 heterozygous PubMed: Cehajic-Kapetanovic 2019 - - Unknown ? - - - - DNA SEQ-NG, SEQ - customized HaloPlex enrichment system kit - 117 retinal genes retinal disease AD2 PubMed: Cehajic-Kapetanovic 2019 - M - - - - - - - 1 LOVD
+?/. - c.1117C>T r.(?) p.(Arg373Cys) Unknown ACMG pathogenic g.16014922G>A g.16013299G>A PROM1 c.1117C>T, p.Arg373Cys - PROM1_000003 heterozygous PubMed: Cehajic-Kapetanovic 2019 - - Unknown ? - - - - DNA SEQ-NG, SEQ - customized HaloPlex enrichment system kit - 117 retinal genes retinal disease AD3 PubMed: Cehajic-Kapetanovic 2019 - F - - - - - - - 1 LOVD
+?/. - c.1117C>T r.(?) p.(Arg373Cys) Unknown ACMG pathogenic g.16014922G>A g.16013299G>A PROM1 c.1117C>T, p.Arg373Cys - PROM1_000003 heterozygous PubMed: Cehajic-Kapetanovic 2019 - - Unknown ? - - - - DNA SEQ-NG, SEQ - customized HaloPlex enrichment system kit - 117 retinal genes retinal disease AD4 PubMed: Cehajic-Kapetanovic 2019 - F - - - - - - - 1 LOVD
+?/. - c.1117C>T r.(?) p.(Arg373Cys) Unknown ACMG pathogenic g.16014922G>A g.16013299G>A PROM1 c.1117C>T, p.Arg373Cys - PROM1_000003 heterozygous PubMed: Cehajic-Kapetanovic 2019 - - Unknown ? - - - - DNA SEQ-NG, SEQ - customized HaloPlex enrichment system kit - 117 retinal genes retinal disease AD5 PubMed: Cehajic-Kapetanovic 2019 - F - - - - - - - 1 LOVD
+?/. - c.1117C>T r.(?) p.(Arg373Cys) Unknown ACMG pathogenic g.16014922G>A g.16013299G>A PROM1 c.1117C>T, p.Arg373Cys - PROM1_000003 heterozygous PubMed: Cehajic-Kapetanovic 2019 - - Unknown ? - - - - DNA SEQ-NG, SEQ - customized HaloPlex enrichment system kit - 117 retinal genes retinal disease AD6 PubMed: Cehajic-Kapetanovic 2019 - F - - - - - - - 1 LOVD
+/. 11 c.1117C>T r.(?) p.(Arg373Cys) Paternal (inferred) - pathogenic g.16014922G>A g.16013299G>A PROM1 c.1117C>T, p.Arg373Cys - PROM1_000003 heterozygous PubMed: Fujinami 2020 - - Germline yes - - - - DNA SEQ-NG, SEQ - whole-exome sequencing retinal disease 1 PubMed: Fujinami 2020 family 1, proband M - - - - - - - 1 LOVD
+/. 11 c.1117C>T r.(?) p.(Arg373Cys) Paternal (confirmed) - pathogenic g.16014922G>A g.16013299G>A PROM1 c.1117C>T, p.Arg373Cys - PROM1_000003 heterozygous PubMed: Fujinami 2020 - - Germline yes - - - - DNA SEQ-NG, SEQ - whole-exome sequencing retinal disease 1 PubMed: Fujinami 2020 family 1, proband's daughter F - - - - - - - 1 LOVD
+/. 11 c.1117C>T r.(?) p.(Arg373Cys) Paternal (confirmed) - pathogenic g.16014922G>A g.16013299G>A PROM1 c.1117C>T, p.Arg373Cys - PROM1_000003 heterozygous PubMed: Fujinami 2020 - - Germline yes - - - - DNA SEQ-NG, SEQ - whole-exome sequencing retinal disease 2 PubMed: Fujinami 2020 family 2, proband M - - - - - - - 1 LOVD
+/. 11 c.1117C>T r.(?) p.(Arg373Cys) Unknown - pathogenic g.16014922G>A g.16013299G>A PROM1 c.1117C>T, p.Arg373Cys - PROM1_000003 heterozygous PubMed: Fujinami 2020 - - Germline yes - - - - DNA SEQ-NG, SEQ - whole-exome sequencing retinal disease 2 PubMed: Fujinami 2020 family 2, proband's mother M - - - - - - - 1 LOVD
+/. 11 c.1117C>T r.(?) p.(Arg373Cys) Paternal (inferred) - pathogenic g.16014922G>A g.16013299G>A PROM1 c.1117C>T, p.Arg373Cys - PROM1_000003 heterozygous PubMed: Fujinami 2020 - - Germline yes - - - - DNA SEQ-NG, SEQ - whole-exome sequencing retinal disease 3 PubMed: Fujinami 2020 family 3, proband F - - - - - - - 1 LOVD
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