Full data view for gene EYS

This database is one of the "Eye disease" gene variant databases. When using this database, please refer to Messchaert et al. 2018.
Information The variants shown are described using the NM_001142800.1 transcript reference sequence.

25 entries on 1 page. Showing entries 1 - 25.
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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     

Origin     

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Frequency     

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Methylation     

Template     

Technique     

Tissue     

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Disease     

ID_report     

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Consanguinity     

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Owner     
+/+ 43 c.9405T>A r.(?) p.(Tyr3135*) Both (homozygous) - pathogenic g.64430522A>T g.63720626A>T p.Tyr3156X - EYS_000020 - PubMed: Collin 2008 - - Germline yes - - - - DNA arraySNP, PCR, SEQ - - retinal disease - PubMed: Collin 2008 - M no Netherlands Dutch - - - - 1 Rob W.J. Collin
+/+ 43 c.9405T>A r.(?) p.(Tyr3135*) Both (homozygous) - pathogenic g.64430522A>T g.63720626A>T p.Tyr3156X - EYS_000020 - PubMed: Collin 2008PubMed: Littink 2010 - - Germline yes - - - - DNA arraySNP, PCR, SEQ - - retinal disease - PubMed: Collin 2008 - F no Netherlands Dutch - - - - 1 Rob W.J. Collin
+/+ 43 c.9405T>A r.(?) p.(Tyr3135*) Both (homozygous) - pathogenic g.64430522A>T g.63720626A>T p.Tyr3156X - EYS_000020 - PubMed: Collin 2008 - - Germline yes - - - - DNA arraySNP, PCR, SEQ - - retinal disease - PubMed: Collin 2008 - M no Netherlands Dutch - - - - 1 Rob W.J. Collin
+/+ 43 c.9405T>A r.(?) p.(Tyr3135*) Both (homozygous) - pathogenic g.64430522A>T g.63720626A>T p.Tyr3156X - EYS_000020 - PubMed: Collin 2008 - - Germline yes - - - - DNA arraySNP, PCR, SEQ - - retinal disease - PubMed: Collin 2008 - F no Netherlands Dutch - - - - 1 Rob W.J. Collin
+/+ 43 c.9405T>A r.(?) p.(Tyr3135*) Both (homozygous) - pathogenic g.64430522A>T g.63720626A>T p.Tyr3156X - EYS_000020 - PubMed: Collin 2008 - - Germline yes - - - - DNA arraySNP, PCR, SEQ - - retinal disease - PubMed: Collin 2008 - F no Netherlands Dutch - - - - 1 Rob W.J. Collin
+/+ 43 c.9405T>A r.(?) p.(Tyr3135*) Both (homozygous) - pathogenic g.64430522A>T g.63720626A>T p.Y3135X - EYS_000020 - PubMed: Barragán 2010 - - Germline yes - - - - DNA PCR, SEQ - - retinal disease - PubMed: Barragán 2010 - M no Spain Spanish - - - - 1 Rob W.J. Collin
+/+ 43 c.9405T>A r.(?) p.(Tyr3135*) Both (homozygous) - pathogenic g.64430522A>T g.63720626A>T p.Y3135X - EYS_000020 - PubMed: Barragán 2010 - - Germline yes - - - - DNA PCR, SEQ - - retinal disease - PubMed: Barragán 2010 - F no Spain Spanish - - - - 1 Rob W.J. Collin
+/+ 43 c.9405T>A r.(?) p.(Tyr3135*) Both (homozygous) - pathogenic g.64430522A>T g.63720626A>T p.Y3135X - EYS_000020 - PubMed: Barragán 2010 - - Germline yes - - - - DNA PCR, SEQ - - retinal disease - PubMed: Barragán 2010 - F no Spain Spanish - - - - 1 Rob W.J. Collin
+/+ 43 c.9405T>A r.(?) p.(Tyr3135*) Both (homozygous) - pathogenic g.64430522A>T g.63720626A>T [His1302Gln; Tyr3135*] - EYS_000020 - PubMed: Messchaert 2018, Journal: Messchaert 2018 - - Germline - - - - - DNA SEQ - - retinal disease - PubMed: Messchaert 2018, Journal: Messchaert 2018 sister of 1 F - Netherlands Dutch - - - - 1 Rob W.J. Collin
+/+ 43 c.9405T>A r.(?) p.(Tyr3135*) Both (homozygous) - pathogenic g.64430522A>T g.63720626A>T p.(Tyr3135*) - EYS_000020 - PubMed: Messchaert 2018, Journal: Messchaert 2018 - - Germline - - - - - DNA PE - APEX retinal disease - PubMed: Messchaert 2018, Journal: Messchaert 2018 - ? - Netherlands Dutch - - - - 1 Rob W.J. Collin
+/+ 43 c.9405T>A r.(?) p.(Tyr3135*) Unknown - pathogenic g.64430522A>T g.63720626A>T p.(Tyr3135*) - EYS_000020 - PubMed: Messchaert 2018, Journal: Messchaert 2018 - - Germline - - - - - DNA SEQ-NG - - CORD - PubMed: Messchaert 2018, Journal: Messchaert 2018 - ? - Netherlands Dutch - - - - 1 Rob W.J. Collin
+/+ 43 c.9405T>A r.(?) p.(Tyr3135*) Unknown - pathogenic g.64430522A>T g.63720626A>T p.(Tyr3135*) - EYS_000020 - PubMed: Messchaert 2018, Journal: Messchaert 2018 - - Germline - - - - - DNA SEQ-NG - - retinal disease - PubMed: Messchaert 2018, Journal: Messchaert 2018 - ? - Netherlands Dutch - - - - 1 Rob W.J. Collin
+/+ 43 c.9405T>A r.(?) p.(Tyr3135*) Unknown - pathogenic g.64430522A>T g.63720626A>T p.(Tyr3135*) - EYS_000020 - PubMed: Messchaert 2018, Journal: Messchaert 2018 - - Germline - - - - - DNA SEQ-NG - - retinal disease - PubMed: Messchaert 2018, Journal: Messchaert 2018 - ? - Netherlands Dutch - - - - 1 Rob W.J. Collin
+/+ 43 c.9405T>A r.(?) p.(Tyr3135*) Both (homozygous) - pathogenic g.64430522A>T g.63720626A>T [His1302Gln; Tyr3135*] - EYS_000020 - PubMed: Messchaert 2018, Journal: Messchaert 2018 - - Germline - - - - - DNA SEQ - - retinal disease - PubMed: Messchaert 2018, Journal: Messchaert 2018 index patient F - Netherlands Dutch - - - - 1 Rob W.J. Collin
+/+ 43 c.9405T>A r.(?) p.(Tyr3135*) Maternal (confirmed) - pathogenic g.64430522A>T g.63720626A>T [3906C>A;9405T>A] - EYS_000020 - PubMed: Haer-Wigman 2017 - - Germline - - - - - DNA SEQ-NG - - retinal disease - PubMed: Haer-Wigman 2017 - ? no Netherlands Dutch - - - - 1 Rob W.J. Collin
+/. - c.9405T>A r.(?) p.(Tyr3135Ter) Unknown - pathogenic g.64430522A>T g.63720626A>T EYS(NM_001292009.1):c.9468T>A (p.Y3156*), EYS(NM_001292009.2):c.9468T>A (p.Y3156*) - EYS_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.9405T>A r.(?) p.(Tyr3135Ter) Unknown - pathogenic g.64430522A>T - EYS(NM_001292009.1):c.9468T>A (p.Y3156*), EYS(NM_001292009.2):c.9468T>A (p.Y3156*) - EYS_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 43 c.9405T>A r.9405u>a p.(Tyr3135*) Both (homozygous) - pathogenic (recessive) g.64430522A>T - c.9468T>A (Tyr3156*) - EYS_000020 - PubMed: Fadaie 2021 - - Germline yes - - - - DNA SEQ-NG - - retinal disease Pat11 PubMed: Fadaie 2021 - M - Israel - - - - - 1 Zeinab Fadaie
+/. - c.9405T>A r.(?) p.(Tyr3135*) Parent #1 - pathogenic (recessive) g.64430522A>T - [3906C>A;9468T>A] 9468T>A (Tyr3156*) - EYS_000020 - PubMed: Fadaie 2021 - - Germline yes - - - - DNA SEQ-NG - - retinal disease Pat9 PubMed: Fadaie 2021 family, 2 affected F - Netherlands - - - - - 2 Zeinab Fadaie
+?/. - c.9405T>A r.(?) p.(Tyr3135*) Paternal (confirmed) - likely pathogenic g.64430522A>T g.63720626A>T NM_001142800, c.9405T>A, p.Tyr3135Ter - EYS_000020 - PubMed: Ezquerra-Inchausti 2018 - - Germline yes - - - - DNA SEQ-NG blood - retinal disease II:1 PubMed: Ezquerra-Inchausti 2018 Family RP1, II:1 ? yes Spain - - - - - 1 LOVD
+?/. - c.9405T>A r.(?) p.(Tyr3135*) Paternal (confirmed) - likely pathogenic g.64430522A>T g.63720626A>T NM_001142800, c.9405T>A, p.Tyr3135Ter - EYS_000020 - PubMed: Ezquerra-Inchausti 2018 - - Germline yes - - - - DNA SEQ-NG blood - retinal disease II:1 PubMed: Ezquerra-Inchausti 2018 Family RP117, II:1 ? no Spain - - - - - 1 LOVD
+?/. 43 c.9405T>A r.(?) p.(Tyr3135*) Unknown - likely pathogenic g.64430522A>T g.63720626A>T EYS Ex.26 c.4045C>T p.(Arg1349*), Ex.43 c.9405T>A p.(Tyr3135*) - EYS_000020 compound heterozygous PubMed: Martin Merida 2019 - - Germline yes - - - - DNA SEQ-NG-I - - retinal disease RP-0540 PubMed: Martin Merida 2019 - ? - Spain - - - - - 1 LOVD
+?/. - c.9405T>A r.(?) p.(Tyr3135*) Parent #1 - likely pathogenic g.64430522A>T g.63720626A>T EYS, variant 1: c.9405T>A/p.Y3135*, variant 2: c.9405T>A/p.Y3135* - EYS_000020 error in annotation, variant matches transcript NM_001142800.1 and not the indicated NM_001292009.1, solved, homozygous PubMed: Weisschuh 2020 - - Unknown ? - - - - DNA SEQ-NG blood RET4 targeted sequencing panel - see paper retinal disease 678 PubMed: Weisschuh 2020 Filing key number: 246, autosomal recessive retinitis pigmentosa, no patient Ids, consecutive numbers given M - Germany - - - - - 1 LOVD
+/. - c.9405T>A r.(?) p.(Tyr3135Ter) Unknown - pathogenic g.64430522A>T - EYS(NM_001292009.1):c.9468T>A (p.Y3156*), EYS(NM_001292009.2):c.9468T>A (p.Y3156*) - EYS_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.9405T>A r.(?) p.(Tyr3135Ter) Unknown ACMG pathogenic g.64430522A>T g.63720626A>T - - EYS_000020 case unsolved PubMed: Hitti-Malin 2024, Journal: Hitti-Malin 2024 - - Germline - - - - - DNA SEQ - smMIP-based 105 iMD/AMD genes macular dystrophy 075139 PubMed: Hitti-Malin 2024, Journal: Hitti-Malin 2024 - - - - - - - - - 1 Johan den Dunnen
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