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.

21 entries on 1 page. Showing entries 1 - 21.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

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Clinical classification     

DNA change (genomic) (hg19)     

DNA change (hg38)     

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DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

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VIP     

Methylation     

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Disease     

ID_report     

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+/. - c.1142-1G>A r.spl? p.? Unknown - pathogenic g.16010732C>T g.16009109C>T - - PROM1_000105 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 10i c.1142-1G>A r.spl p.? Both (homozygous) - pathogenic (recessive) g.16010732C>T g.16009109C>T - - PROM1_000105 - PubMed: Birtel 2018 - - Germline - - - - - DNA SEQ-NG - - retinal disease Pat110 PubMed: Birtel 2018 family F - Germany - - - - - 1 LOVD
?/. - c.1142-1G>A r.spl p.? Unknown - VUS g.16010732C>T g.16009109C>T - - PROM1_000105 - PubMed: Tiwari 2016 - - Germline - - - - - DNA SEQ-NG - WES retinal disease Case71918 PubMed: Tiwari 2016 see paper F - Switzerland - - - - - 1 LOVD
+/. 12i c.1142-1G>A r.spl p.(?) Paternal (inferred) ACMG pathogenic g.16010732C>T g.16009109C>T - - PROM1_000105 - 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 394 Tracewska 2021, MolVis in press proband M no Poland Slavic - - yes - 1 LOVD
?/. 9i c.1142-1G>A r.spl? p.? Both (homozygous) - VUS g.16010732C>T - c.1142–1G>A - PROM1_000105 - PubMed: Littink 2010 - - Germline - - - - - DNA SEQ - - retinal disease - PubMed: Littink 2010 - - no Netherlands Greek - - - - 1 LOVD
?/. 9i c.1142-1G>A r.spl? p.? Both (homozygous) - VUS g.16010732C>T - c.1142–1G>A - PROM1_000105 - PubMed: Littink 2010 - - Germline - - - - - DNA SEQ - - retinal disease - PubMed: Littink 2010 - - no Netherlands Greek - - - - 1 LOVD
+?/. - c.1142-1G>A r.spl p.(?) Parent #1 - likely pathogenic g.16010732C>T g.16009109C>T PROM1, variant 1: c.1142-1G>A/p.?, variant 2: c.1142-1G>A/p.? - PROM1_000105 solved, homozygous PubMed: Weisschuh 2020 - - Germline yes - - - - DNA SEQ-NG blood RET3 targeted sequencing panel - see paper retinal disease 878 PubMed: Weisschuh 2020 Filing key number: 366, cone-rod dystrophy, no patient Ids, consecutive numbers given F - Germany - - - - - 1 LOVD
+?/. - c.1142-1G>A r.spl p.(?) Parent #1 - likely pathogenic g.16010732C>T g.16009109C>T PROM1, variant 1: c.1142-1G>A/p.?, variant 2: c.1142-1G>A/p.? - PROM1_000105 solved, homozygous PubMed: Weisschuh 2020 - - Germline yes - - - - DNA SEQ-NG blood RET7 targeted sequencing panel - see paper retinal disease 1056 PubMed: Weisschuh 2020 Filing key number: 657, cone-rod dystrophy, no patient Ids, consecutive numbers given F - Germany - - - - - 1 LOVD
+?/. - c.1142-1G>A r.spl p.(?) Parent #1 - likely pathogenic g.16010732C>T g.16009109C>T PROM1, variant 1: c.1142-1G>A/p.?, variant 2: c.1142-1G>A/p.? - PROM1_000105 solved, homozygous PubMed: Weisschuh 2020 - - Germline yes - - - - DNA SEQ blood Sanger sequencing retinal disease 1057 PubMed: Weisschuh 2020 Filing key number: 657, cone-rod dystrophy, no patient Ids, consecutive numbers given M - Germany - - - - - 1 LOVD
+?/. - c.1142-1G>A r.spl p.(?) Parent #1 - likely pathogenic g.16010732C>T g.16009109C>T PROM1, variant 1: c.1142-1G>A/p.?, variant 2: c.1142-1G>A/p.? - PROM1_000105 solved, homozygous PubMed: Weisschuh 2020 - - Germline yes - - - - DNA SEQ blood Sanger sequencing retinal disease 1058 PubMed: Weisschuh 2020 Filing key number: 657, cone-rod dystrophy, no patient Ids, consecutive numbers given M - Germany - - - - - 1 LOVD
+?/. - c.1142-1G>A r.spl p.(?) Parent #1 - likely pathogenic g.16010732C>T g.16009109C>T PROM1, variant 1: c.1142-1G>A/p.?, variant 2: c.1142-1G>A/p.? - PROM1_000105 solved, homozygous PubMed: Weisschuh 2020 - - Unknown ? - - - - DNA SEQ blood Sanger sequencing retinal disease 1062 PubMed: Weisschuh 2020 Filing key number: 665, cone-rod dystrophy, no patient Ids, consecutive numbers given F - Germany - - - - - 1 LOVD
+?/. - c.1142-1G>A r.spl p.(?) Parent #1 - likely pathogenic g.16010732C>T g.16009109C>T PROM1, variant 1: c.1142-1G>A/p.?, variant 2: c.1142-1G>A/p.? - PROM1_000105 solved, homozygous PubMed: Weisschuh 2020 - - Unknown ? - - - - DNA SEQ-NG blood RET9 targeted sequencing panel - see paper retinal disease 1063 PubMed: Weisschuh 2020 Filing key number: 665, cone-rod dystrophy, no patient Ids, consecutive numbers given F - Germany - - - - - 1 LOVD
+?/. 9i c.1142-1G>A r.spl? p.? Parent #1 - likely pathogenic g.16010732C>T - c.1142-1G>A - PROM1_000105 - PubMed: Maggi_2021 - - Germline yes - - - - DNA SEQ - - retinal disease - PubMed: Maggi_2021 - F - Switzerland - - - - - 1 LOVD
+?/. 9i c.1142-1G>A r.spl? p.? Parent #1 - likely pathogenic g.16010732C>T - c.1142-1G>A - PROM1_000105 - PubMed: Maggi_2021 - - Germline yes - - - - DNA SEQ - - retinal disease - PubMed: Maggi_2021 - F - Switzerland - - - - - 1 LOVD
+?/. 9i c.1142-1G>A r.spl? p.? Parent #1 - likely pathogenic g.16010732C>T - c.1142-1G>A - PROM1_000105 - PubMed: Maggi_2021 - - Germline yes - - - - DNA SEQ - - retinal disease - PubMed: Maggi_2021 - F - Switzerland - - - - - 1 LOVD
+?/. 9i c.1142-1G>A r.spl? p.? Parent #1 - likely pathogenic g.16010732C>T - c.1142-1G>A - PROM1_000105 - PubMed: Maggi_2021 - - Germline yes - - - - DNA SEQ - - retinal disease - PubMed: Maggi_2021 - F - Switzerland - - - - - 1 LOVD
+?/. - c.1142-1G>A r.spl p.? Both (homozygous) ACMG pathogenic g.16010732C>T g.16009109C>T PROM1 c.1142-1G>A, Splice acceptor site - PROM1_000105 homozygous PubMed: Cehajic-Kapetanovic 2019 - - Unknown ? - - - - DNA SEQ-NG, SEQ - customized HaloPlex enrichment system kit - 117 retinal genes retinal disease AR11 PubMed: Cehajic-Kapetanovic 2019 - F - - - - - - - 1 LOVD
+?/. - c.1142-1G>A r.spl p.? Both (homozygous) ACMG pathogenic g.16010732C>T g.16009109C>T PROM1 c.1142-1G>A, Splice acceptor site - PROM1_000105 homozygous PubMed: Cehajic-Kapetanovic 2019 - - Unknown ? - - - - DNA SEQ-NG, SEQ - customized HaloPlex enrichment system kit - 117 retinal genes retinal disease AR9 PubMed: Cehajic-Kapetanovic 2019 - F - - - - - - - 1 LOVD
+?/. - c.1142-1G>A r.spl p.? Parent #2 ACMG pathogenic g.16010732C>T g.16009109C>T c.1142-1G>A, Splice acceptor site - PROM1_000105 compound heterozygous PubMed: Cehajic-Kapetanovic 2019 - - Unknown ? - - - - DNA SEQ-NG, SEQ - customized HaloPlex enrichment system kit - 117 retinal genes retinal disease AR12 PubMed: Cehajic-Kapetanovic 2019 - F - - - - - - - 1 LOVD
+/. 9i c.1142-1G>A r.spl? p.(?) Parent #2 - pathogenic g.16010732C>T - c.1142-1G>A - PROM1_000105 - PubMed: Panneman 2023 - - Unknown - - - - - DNA SEQ - RP-LCA smMIPs sequencing RP - PubMed: Panneman 2023 - M - - - - - - - 1 Daan Panneman
+/. 9i c.1142-1G>A r.spl? p.(?) Parent #2 - pathogenic g.16010732C>T - c.1142-1G>A - PROM1_000105 - PubMed: Panneman 2023 - - Unknown - - - - - DNA SEQ - RP-LCA smMIPs sequencing RP - PubMed: Panneman 2023 - M - - - - - - - 1 Daan Panneman
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