Full data view for gene TULP1

This database is one of the "Eye disease" gene variant databases.
Information The variants shown are described using the NM_003322.3 transcript reference sequence.

20 entries on 1 page. Showing entries 1 - 20.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Allele     

Classification method     

Clinical classification     

DNA change (genomic) (hg19)     

DNA change (hg38)     

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ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

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Re-site     

VIP     

Methylation     

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Disease     

ID_report     

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Data_av     

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Owner     
+?/? 13i c.1496-6C>A r.(spl?) p.(=) Both (homozygous) - likely pathogenic g.35466243G>T g.35498466G>T IVS14-6C>A - TULP1_000041 Technique: also used LInkage Analysis PubMed: Gu 1998 - - Germline - - - - - DNA RT-PCR, SEQ, SSCA - - RPar - PubMed: Gu 1998 -0 M ? Germany - - - - - 1 Raheel Qamar
-?/? 13i c.1496-6C>A r.(spl?) p.(=) Both (homozygous) - likely benign g.35466243G>T g.35498466G>T IVS14-6C->A/TGTCCAT->TGTACAT - TULP1_000041 - PubMed: Hagstrom 1998 - - Germline - - - - - DNA SSCA, PCRdig, SEQ, PAGE - - - - PubMed: Hagstrom 1998 ? ? ? United States - - - - - 1 Raheel Qamar
+?/? 13i c.1496-6C>A r.(spl?) p.(=) Both (homozygous) - likely pathogenic g.35466243G>T g.35498466G>T IVS14-6C>A - TULP1_000041 Technique: also used LInkage Analysis PubMed: Gu 1998 - - Germline - - - - - DNA RT-PCR, SEQ, SSCA - - RPar - PubMed: Gu 1998 -0 M ? Germany - - - - - 1 Raheel Qamar
+/. - c.1496-6C>A r.spl p.? Parent #1 - pathogenic g.35466243G>T g.35498466G>T - - TULP1_000041 - PubMed: Comander 2017 - - Germline - - - - - DNA SEQ-NG - gene panel retinal disease Pat33 PubMed: Comander 2017 proband F - United States - - - - - 1 Johan den Dunnen
+?/. - c.1496-6C>A r.spl p.? Parent #1 - likely pathogenic g.35466243G>T g.35498466G>T IVS14-6C>A - TULP1_000041 - PubMed: Stone 2017 - - Germline - - - - - DNA SEQ-NG - - retinal disease 81 PubMed: Stone 2017 1 affected M - (United States) - - - - - 1 LOVD
+/. 14i c.1496-6C>A r.spl p.? Parent #1 - pathogenic g.35466243G>T g.35498466G>T - - TULP1_000041 - PubMed: Bernardis 2016 - - Germline - - - - - DNA SEQ-NG - 72-gene panel retinal disease IRD041 PubMed: Bernardis 2016 - - Italy - - - - - 1 LOVD
+?/. - c.1496-6C>A r.spl p.? Parent #2 - likely pathogenic (recessive) g.35466243G>T g.35498466G>T - - TULP1_000041 - PubMed: Weisschuh 2016 - - Germline - - - - - DNA SEQ-NG - gene panel retinal disease RCD281 PubMed: Weisschuh 2016 family - - Germany - - - - - 1 LOVD
?/. - c.1496-6C>A r.spl? p.(?) Unknown ACMG VUS g.35466243G>T g.35498466G>T TULP1 c.1495+6T>C, p.(?), c.1496-6C>A, p.(?) - TULP1_000041 - PubMed: Jespersgaar 2019 - - Germline ? - - - - DNA SEQ-NG-I blood 125 genes associated with inherited retinal disorders, see paper supplemental data retinal disease 472 PubMed: Jespersgaar 2019 - ? - Denmark - - - - - 1 LOVD
+?/. - c.1496-6C>A r.spl? p.(?) Unknown - likely pathogenic g.35466243G>T g.35498466G>T TULP1 c.1496-6C>A - TULP1_000041 Located at end of transcript, heterozygous PubMed: Zampaglione 2020 - - Unknown ? - - - - DNA SEQ-NG-I, SEQ blood - retinal disease 121-055 PubMed: Zampaglione 2020 - ? - - - - - - - 1 LOVD
+?/. - c.1496-6C>A r.spl? p.(?) Unknown - likely pathogenic g.35466243G>T g.35498466G>T TULP1 c.1496-6C>A - TULP1_000041 Located at end of transcript, heterozygous PubMed: Zampaglione 2020 - - Unknown ? - - - - DNA SEQ-NG-I, SEQ blood - retinal disease 121-260 PubMed: Zampaglione 2020 - ? - - - - - - - 1 LOVD
+?/. - c.1496-6C>A r.spl? p.(?) Parent #1 - likely pathogenic g.35466243G>T g.35498466G>T TULP1, variant 1: c.1496-6C>A/p.?, variant 2: c.1496-6C>A/p.? - TULP1_000041 solved, homozygous PubMed: Weisschuh 2020 - - Unknown ? - - - - DNA SEQ-NG blood RET9 targeted sequencing panel - see paper retinal disease 1222 PubMed: Weisschuh 2020 Filing key number: 963, sporadic retinitis pigmentosa, no patient Ids, consecutive numbers given M - Germany - - - - - 1 LOVD
+?/. - c.1496-6C>A r.spl? p.(?) Parent #1 - likely pathogenic g.35466243G>T g.35498466G>T TULP1, variant 1: c.1025G>A/p.R342Q, variant 2: c.1496-6C>A/p.? - TULP1_000041 solved, compound heterozygous PubMed: Weisschuh 2020 - - Unknown ? - - - - DNA SEQ blood Sanger sequencing retinal disease 735 PubMed: Weisschuh 2020 Filing key number: 281, cone-rod dystrophy, no patient Ids, consecutive numbers given F - Germany - - - - - 1 LOVD
+?/. - c.1496-6C>A r.spl? p.(?) Parent #1 - likely pathogenic g.35466243G>T g.35498466G>T TULP1, variant 1: c.1025G>A/p.R342Q, variant 2: c.1496-6C>A/p.? - TULP1_000041 solved, compound heterozygous PubMed: Weisschuh 2020 - - Unknown ? - - - - DNA SEQ-NG blood RET7 targeted sequencing panel - see paper retinal disease 736 PubMed: Weisschuh 2020 Filing key number: 281, cone-rod dystrophy, no patient Ids, consecutive numbers given M - Germany - - - - - 1 LOVD
+?/. - c.1496-6C>A r.spl? p.(?) Parent #1 - likely pathogenic g.35466243G>T g.35498466G>T TULP1, variant 1: c.1471T>C/p.F491L, variant 2: c.1496-6C>A/p.? - TULP1_000041 solved, compound heterozygous PubMed: Weisschuh 2020 - - Unknown ? - - - - DNA SEQ-NG blood RET8 targeted sequencing panel - see paper retinal disease 1051 PubMed: Weisschuh 2020 Filing key number: 640, cone-rod dystrophy, no patient Ids, consecutive numbers given F - Germany - - - - - 1 LOVD
+?/. - c.1496-6C>A r.spl? p.(?) Both (homozygous) - likely pathogenic g.35466243G>T g.35498466G>T TULP1 c.1496-6C>A, - TULP1_000041 homozygous PubMed: Turro 2020 - - Germline/De novo (untested) ? - - - - DNA SEQ-NG-I blood whole genome sequencing retinal disease G005259 PubMed: Turro 2020 only individuals with mutations in retinal disease genes from this publication were inserted into LOVD ? - (United Kingdom (Great Britain)) - - - - - 1 LOVD
+?/. 13i c.1496-6C>A r.spl? p.? Unknown - likely pathogenic (recessive) g.35466243G>T - c.1496-6C>A - TULP1_000041 - PubMed: Colombo-2020 - rs281865171 Germline - - - - - DNA SEQ - - retinal disease - PubMed: Colombo-2020 - M no - - - - - - 1 LOVD
+?/. 13i c.1496-6C>A r.spl? p.? Unknown - likely pathogenic (recessive) g.35466243G>T - c.1496-6C>A - TULP1_000041 - PubMed: Colombo-2020 - rs281865171 Germline - - - - - DNA SEQ - - retinal disease - PubMed: Colombo-2020 - F no - - - - - - 1 LOVD
+/. 13i c.1496-6C>A r.spl? p.(?) Parent #1 - pathogenic g.35466243G>T - c.1496-6C>A - TULP1_000041 - PubMed: Panneman 2023 - - Unknown - - - - - DNA SEQ - RP-LCA smMIPs sequencing RP - PubMed: Panneman 2023 - M - - - - - - - 1 Daan Panneman
+?/. - c.1496-6C>A r.spl? p.? Unknown ACMG likely pathogenic (recessive) g.35466243G>T g.35498466G>T - - TULP1_000041 ACMG PM2, PP5_STRONG, BP4, PS4_MODERATE PubMed: Weisschuh 2024 - - Germline - - - - - DNA SEQ-NG - WGS ? SRP-1146 PubMed: Weisschuh 2024 patient, no family history F - Germany - - - - - 1 Johan den Dunnen
+/. - c.1496-6C>A r.spl? p.? Unknown ACMG pathogenic g.35466243G>T g.35498466G>T - - TULP1_000041 case unsolved PubMed: Hitti-Malin 2024, Journal: Hitti-Malin 2024 - - Germline - - - - - DNA SEQ - smMIP-based 105 iMD/AMD genes macular dystrophy 072852 PubMed: Hitti-Malin 2024, Journal: Hitti-Malin 2024 - - - - - - - - - 1 Johan den Dunnen
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