Full data view for gene ABCA4


The expert classification of the variants can be found here.

To other Inherited Retinal Disease gene variant database:
Information The variants shown are described using the NM_000350.2 transcript reference sequence.

48 entries on 1 page. Showing entries 1 - 48.
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AscendingDNA change (cDNA)     

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DNA change (genomic) (hg19)     

DNA change (hg38)     

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+?/. 38 c.5381C>A r.(?) p.(Ala1794Asp) Parent #1 - likely pathogenic g.94480178G>T g.94014622G>T - - ABCA4_000005 predicted to affect function, but insufficient evidence for definite conclusion PubMed: Neveling 2012 - - Germline no - - - - DNA SEQ, SEQ-NG-S - - retinal disease - PubMed: Neveling 2012 - M no - - - - - - 1 Kornelia Neveling
+?/. 38 c.5381C>A r.(?) p.(Ala1794Asp) Unknown - likely pathogenic g.94480178G>T g.94014622G>T - - ABCA4_000005 - PubMed: Bax 2014 - - Unknown ? - - - - DNA SEQ - - STGD - PubMed: Bax 2015 2-generation family, 1 affected, unaffected parents F no Netherlands - - - - - 1 Nathalie Bax
+/. 38 c.5381C>A r.(?) p.(Ala1794Asp) Unknown - pathogenic g.94480178G>T g.94014622G>T 5381C>A - ABCA4_000005 - PubMed: Maugeri 1999 - - Germline - ExAC 3, 121408, 0, 0.00002471 - - - DNA HD, SEQ - - STGD1 - PubMed: Maugeri 1999 - ? ? Sweden;Germany;Netherlands - - - - - 1 Stéphanie Cornelis
?/. 38 c.5381C>A r.(?) p.(Ala1794Asp) Unknown - VUS g.94480178G>T g.94014622G>T 5381C>T, Ala1794Asp - ABCA4_000005 - PubMed: Downes 2012 - - Germline - 3, 121408, 0, 0.00002471 - - - DNA SEQ, MLPA - - ? - PubMed: Downes 2012 - ? ? - ? - - - - 1 Stéphanie Cornelis
+/. 38 c.5381C>A r.(5381c>a) p.(Ala1794Asp) Parent #1 ACMG pathogenic (recessive) g.94480178G>T g.94014622G>T - - ABCA4_000005 - PubMed: Cornelis 2017, Journal: Cornelis 2017, Journal: Cornelis 2023 - - SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 38 c.5381C>A r.(?) p.(Ala1794Asp) Parent #1 - likely pathogenic g.94480178G>T g.94014622G>T - - ABCA4_000005 - PubMed: Khan 2019 - - Germline yes - - - - DNA SEQ, MIPsm - - STGD1 ? PubMed: Khan 2019 - - - France - - - - - 1 Stéphanie Cornelis
+?/. 38 c.5381C>A r.(?) p.(Ala1794Asp) Parent #1 - likely pathogenic g.94480178G>T g.94014622G>T - - ABCA4_000005 - PubMed: Khan 2019 - - Unknown no - - - - DNA SEQ, MIPsm - - STGD1 ? PubMed: Khan 2019 - - - France - - - - - 1 Stéphanie Cornelis
+/. - c.5381C>A r.(?) p.(Ala1794Asp) Unknown - pathogenic g.94480178G>T g.94014622G>T ABCA4(NM_000350.2):c.5381C>A (p.A1794D), ABCA4(NM_000350.3):c.5381C>A (p.A1794D) - ABCA4_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.5381C>A r.(?) p.(Ala1794Asp) Unknown - likely pathogenic g.94480178G>T g.94014622G>T ABCA4(NM_000350.2):c.5381C>A (p.A1794D), ABCA4(NM_000350.3):c.5381C>A (p.A1794D) - ABCA4_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.5381C>A r.(?) p.(Ala1794Asp) Unknown - pathogenic (recessive) g.94480178G>T - 1:94480178G>T ENST00000370225.3:c.5381C>A (Ala1794Asp) - ABCA4_000005 - PubMed: Carss 2017 - - Germline - - - - - DNA SEQ-NG - WGS retinal disease G001403 PubMed: Carss 2017 - M - United Kingdom (Great Britain) Europe - - - - 1 LOVD
+/. 38 c.5381C>A r.(?) p.(Ala1794Asp) Parent #2 - pathogenic (recessive) g.94480178G>T g.94014622G>T - - ABCA4_000005 - PubMed: Birtel 2018 - - Germline - - - - - DNA SEQ - - retinal disease Pat69 PubMed: Birtel 2018 patient M - Germany - - - - - 1 LOVD
+/. - c.5381C>A r.(?) p.(Ala1794Asp) Parent #1 - pathogenic (recessive) g.94480178G>T g.94014622G>T - - ABCA4_000005 - PubMed: Tiwari 2016 - - Germline - - - - - DNA SEQ-NG - WES retinal disease Case71876 PubMed: Tiwari 2016 see paper F - Switzerland - - - - - 1 LOVD
+?/. 38 c.5381C>A r.(?) p.(Ala1794Asp) Unknown - likely pathogenic (recessive) g.94480178G>T g.94014622G>T A1794D - ABCA4_000005 segregation analysis done when possible PubMed: Chen 2010 - - Unknown - - - - - DNA SEQ - - retinal disease S0044 PubMed: Chen 2010 - - ? United States - - - - - 1 Stéphanie Cornelis
+?/. 38 c.5381C>A r.(?) p.(Ala1794Asp) Unknown - likely pathogenic (recessive) g.94480178G>T g.94014622G>T c.5381C>A p.(A1794D) - ABCA4_000005 no variant 2nd chromosome PubMed: Schulz 2017 - - Unknown - - - - - DNA arraySEQ, SEQ-NG - RetChip retinal disease Unknown 516 PubMed: Schulz 2017 191 F, 144 M in this study - ? Germany - - - - - 1 Stéphanie Cornelis
+?/. 38 c.5381C>A r.(?) p.(Ala1794Asp) Parent #1 - likely pathogenic (recessive) g.94480178G>T g.94014622G>T c.[5381C>A] - ABCA4_000005 - PubMed: Bauwens 2019 - - Unknown yes - - - - DNA SEQ-NG-I - - retinal disease P11G1 PubMed: Bauwens 2019 - M ? - - - - - - 1 Stéphanie Cornelis
+?/. 38 c.5381C>A r.(?) p.(Ala1794Asp) Parent #1 - likely pathogenic (recessive) g.94480178G>T g.94014622G>T c.5381C>A p.(Ala1794Asp) - ABCA4_000005 - PubMed: Khan 2019 - - Unknown yes - - - - DNA SEQ-NG, MIPsm - smMIPs of exons and few intronic regions retinal disease 67146 PubMed: Khan 2019 - - ? France - - - - - 1 Stéphanie Cornelis
+?/. 38 c.5381C>A r.(?) p.(Ala1794Asp) Unknown - likely pathogenic (recessive) g.94480178G>T g.94014622G>T c.5381C>A p.(Ala1794Asp) - ABCA4_000005 no segregation analysis done PubMed: Khan 2019 - - Unknown - - - - - DNA SEQ-NG, MIPsm - smMIPs of exons and few intronic regions retinal disease 67325 PubMed: Khan 2019 - - ? France - - - - - 1 Stéphanie Cornelis
+?/. 38 c.5381C>A r.(?) p.(Ala1794Asp) Unknown - likely pathogenic (recessive) g.94480178G>T g.94014622G>T NM_000350.2:c.5381C>A:p.Ala1794Asp; - ABCA4_000005 - PubMed: Tiwari 2016 - - Unknown - - - - - DNA SEQ-NG - WES retinal disease 71876 PubMed: Tiwari 2016 - F ? Switzerland - - - - - 1 Stéphanie Cornelis
+?/. 38 c.5381C>A r.(?) p.(Ala1794Asp) Parent #1 - likely pathogenic (recessive) g.94480178G>T g.94014622G>T p.Ala1794Asp - ABCA4_000005 - PubMed: Birtel 2018 - - Unknown - - - - - DNA SEQ - - retinal disease 69 PubMed: Birtel 2018 - M no Germany - - - - - 1 Stéphanie Cornelis
+?/. 38 c.5381C>A r.(?) p.(Ala1794Asp) Unknown - likely pathogenic (recessive) g.94480178G>T g.94014622G>T c.5381C>A p.(Ala1794Asp) - ABCA4_000005 no segregation analysis done PubMed: Nassisi 2018 - - Unknown - - - - - DNA PE, SEQ - APEX retinal disease CIC04259 PubMed: Nassisi 2018 - - ? France - - - - - 1 Stéphanie Cornelis
+?/. 38 c.5381C>A r.(?) p.(Ala1794Asp) Parent #2 - likely pathogenic (recessive) g.94480178G>T g.94014622G>T c.5381C>A p.Ala1794Asp - ABCA4_000005 - PubMed: Salles 2018 - - Unknown yes - - - - DNA SEQ-NG-I - - retinal disease 42 PubMed: Salles 2018 - M ? Brazil - - - - - 1 Stéphanie Cornelis
+?/. 38 c.5381C>A r.(?) p.(Ala1794Asp) Parent #2 - likely pathogenic (recessive) g.94480178G>T g.94014622G>T c.5381C>A p.Ala1794Asp - ABCA4_000005 - PubMed: Salles 2018 - - Unknown yes - - - - DNA SEQ-NG-I - - retinal disease 50 PubMed: Salles 2018 - M ? Brazil - - - - - 1 Stéphanie Cornelis
+?/. 38 c.5381C>A r.(?) p.(Ala1794Asp) Parent #1 - likely pathogenic (recessive) g.94480178G>T g.94014622G>T M2 = c.6529G>A (p.(D2177N)) - ABCA4_000005 - PubMed: Neveling 2012 - - Unknown - - - - - DNA SEQ-NG, SEQ - - retinal disease 21010 PubMed: Neveling 2012 - M ? - - - - - - 1 Stéphanie Cornelis
+?/. 38 c.5381C>A r.(?) p.(Ala1794Asp) Unknown - likely pathogenic (recessive) g.94480178G>T g.94014622G>T het c.5381C>A p.Ala1794Asp - ABCA4_000005 - PubMed: Gliem 2020 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease 6 PubMed: Gliem 2020 - M ? Germany - - - - - 1 Stéphanie Cornelis
+?/. 38 c.5381C>A r.(?) p.(Ala1794Asp) Unknown - likely pathogenic (recessive) g.94480178G>T g.94014622G>T ENST00000370225.3:c.5381C>A p.Ala1794Asp 0/1 - ABCA4_000005 - PubMed: Carss 2017 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease G001403 PubMed: Carss 2017 - M ? England white - - - - 1 Stéphanie Cornelis
+?/. 38 c.5381C>A r.(?) p.(Ala1794Asp) Unknown - likely pathogenic (recessive) g.94480178G>T g.94014622G>T c.5381C>A p.(Ala1794Asp) - ABCA4_000005 - PubMed: Sodi 2018 - - Unknown - - - - - DNA SEQ - - retinal disease 54 PubMed: Sodi 2018 - - ? Italy - - - - - 1 Stéphanie Cornelis
+?/. 38 c.5381C>A r.(?) p.(Ala1794Asp) Unknown - likely pathogenic (recessive) g.94480178G>T g.94014622G>T c.5381C>A p.Ala1794Asp Het - ABCA4_000005 - Prevention Genetics - - Unknown - - - - - DNA SEQ-NG - CRD panel retinal disease 2015-341-010 Prevention Genetics - - ? - - - - - - 1 Stéphanie Cornelis
+?/. 38 c.5381C>A r.(?) p.(Ala1794Asp) Unknown - likely pathogenic (recessive) g.94480178G>T g.94014622G>T c.5381C>A, p.Ala1794Asp Heterozygous - ABCA4_000005 - PubMed: Goetz 2020 - - Unknown - 3, 121408, 0, 0.00002471 - - - DNA SEQ-NG-I - solid state SBS retinal disease 4094-4984 PubMed: Goetz 2020 - - ? - - - - - - 1 Stéphanie Cornelis
+?/. 38 c.5381C>A r.(?) p.(Ala1794Asp) Unknown - likely pathogenic (recessive) g.94480178G>T g.94014622G>T c.5381C>A, p.Ala1794Asp Heterozygous - ABCA4_000005 - PubMed: Goetz 2020 - - Unknown - 3, 121408, 0, 0.00002471 - - - DNA arraySEQ, SEQ - Gene Chip retinal disease 644-1159 PubMed: Goetz 2020 - - ? - - - - - - 1 Stéphanie Cornelis
+?/. - c.5381C>A r.(?) p.(Ala1794Asp) Unknown - likely pathogenic g.94480178G>T g.94014622G>T ABCA4 c.5381C>A, p.Ala1794Asp - ABCA4_000005 heterozygous PubMed: Turro 2020 - - Germline/De novo (untested) ? - - - - DNA SEQ-NG-I blood whole genome sequencing retinal disease G001403 PubMed: Turro 2020 only individuals with mutations in retinal disease genes from this publication were inserted into LOVD ? - (United Kingdom (Great Britain)) - - - - - 1 LOVD
+?/. 38 c.5381C>A r.(?) p.(Ala1794Asp) Unknown - likely pathogenic g.94480178G>T - c.5381C>A - ABCA4_000005 - PubMed: Maggi_2021 - - Germline - - - - - DNA SEQ - - retinal disease - PubMed: Maggi_2021 - F - Switzerland - - - - - 1 LOVD
+?/. 38 c.5381C>A r.(?) p.(Ala1794Asp) Unknown - likely pathogenic g.94480178G>T - c.5381C>A - ABCA4_000005 - PubMed: Maggi_2021 - - Germline - - - - - DNA SEQ - - retinal disease - PubMed: Maggi_2021 - F - Switzerland - - - - - 1 LOVD
+?/. 38 c.5381C>A r.(?) p.(Ala1794Asp) Unknown - likely pathogenic g.94480178G>T - c.5381C>A - ABCA4_000005 - PubMed: Maggi_2021 - - Germline - - - - - DNA SEQ - - retinal disease - PubMed: Maggi_2021 - F - Switzerland - - - - - 1 LOVD
+?/. - c.5381C>A r.(?) p.(Ala1794Asp) Unknown - likely pathogenic g.94480178G>T - ABCA4(NM_000350.2):c.5381C>A (p.A1794D), ABCA4(NM_000350.3):c.5381C>A (p.A1794D) - ABCA4_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 38 c.5381C>A r.(?) p.(Ala1794Asp) Parent #2 ACMG pathogenic (recessive) g.94480178G>T g.94014622G>T - - ABCA4_000005 - PubMed: Corradi 2023, Journal: Corradi 2023 - - Germline - - - - - DNA MIPsm, SEQ-NG - - retinal disease Pat254 PubMed: Corradi 2023, Journal: Corradi 2023 - F - - - - - - - 1 Zelia Corradi
+/. - c.5381C>A r.(?) p.(Ala1794Asp) Unknown - pathogenic (recessive) g.94480178G>T g.94014622G>T - - ABCA4_000005 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Unknown - - - - - DNA SEQ-NG - - retinal disease L-0227 PubMed: Cornelis 2024, Journal: Cornelis 2024 - M - France - - - - - 1 Frans Cremers
+/. - c.5381C>A r.(?) p.(Ala1794Asp) Unknown - pathogenic (recessive) g.94480178G>T g.94014622G>T - - ABCA4_000005 no variant 2nd chromosome PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Unknown - - - - - DNA DHPLC, SEQ - - retinal disease L-0676 PubMed: Cornelis 2024, Journal: Cornelis 2024 - F - France - - - - - 1 Frans Cremers
+/. - c.5381C>A r.(?) p.(Ala1794Asp) Unknown - pathogenic (recessive) g.94480178G>T g.94014622G>T - - ABCA4_000005 no variant 2nd chromosome PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Unknown - - - - - DNA DHPLC, SEQ - - retinal disease L-0733 PubMed: Cornelis 2024, Journal: Cornelis 2024 - M - France - - - - - 1 Frans Cremers
+/. - c.5381C>A r.(?) p.(Ala1794Asp) Unknown - pathogenic (recessive) g.94480178G>T g.94014622G>T - - ABCA4_000005 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Unknown - - - - - DNA DHPLC, SEQ - - retinal disease L-0747 PubMed: Cornelis 2024, Journal: Cornelis 2024 - F - France - - - - - 1 Frans Cremers
+/. - c.5381C>A r.(?) p.(Ala1794Asp) Parent #2 - pathogenic (recessive) g.94480178G>T g.94014622G>T - - ABCA4_000005 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Germline yes - - - - DNA SEQ-NG - - retinal disease L-0007 PubMed: Cornelis 2024, Journal: Cornelis 2024 - M - France - - - - - 1 Frans Cremers
+/. - c.5381C>A r.(?) p.(Ala1794Asp) Unknown - pathogenic (recessive) g.94480178G>T g.94014622G>T - - ABCA4_000005 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Unknown - - - - - DNA SEQ-NG - - retinal disease L-0241 PubMed: Cornelis 2024, Journal: Cornelis 2024 - M - France - - - - - 1 Frans Cremers
+/. - c.5381C>A r.(?) p.(Ala1794Asp) Unknown - pathogenic (recessive) g.94480178G>T g.94014622G>T - - ABCA4_000005 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Unknown - - - - - DNA SEQ-NG - - retinal disease L-0244 PubMed: Cornelis 2024, Journal: Cornelis 2024 - M - France - - - - - 1 Frans Cremers
+/. - c.5381C>A r.(?) p.(Ala1794Asp) Parent #2 - pathogenic (recessive) g.94480178G>T g.94014622G>T - - ABCA4_000005 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Germline yes - - - - DNA SEQ - - retinal disease L-0275 PubMed: Cornelis 2024, Journal: Cornelis 2024 - M - France - - - - - 1 Frans Cremers
+/. - c.5381C>A r.(?) p.(Ala1794Asp) Parent #2 - pathogenic (recessive) g.94480178G>T g.94014622G>T - - ABCA4_000005 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Germline yes - - - - DNA SEQ-NG - - retinal disease L-0431 PubMed: Cornelis 2024, Journal: Cornelis 2024 - F - France - - - - - 1 Frans Cremers
+/. - c.5381C>A r.(?) p.(Ala1794Asp) Parent #2 - pathogenic (recessive) g.94480178G>T g.94014622G>T - - ABCA4_000005 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Germline yes - - - - DNA MCA, SEQ - - retinal disease L-0903 PubMed: Cornelis 2024, Journal: Cornelis 2024 - F - France - - - - - 1 Frans Cremers
+/. - c.5381C>A r.(?) p.(Ala1794Asp) Unknown - pathogenic (recessive) g.94480178G>T g.94014622G>T - - ABCA4_000005 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Germline/De novo (untested) - - - - - DNA SEQ - - retinal disease MEH-nonmild-258 PubMed: Cornelis 2024, Journal: Cornelis 2024 - M - United Kingdom (Great Britain) - - - - - 1 Stéphanie Cornelis
+/. - c.5381C>A r.(?) p.(Ala1794Asp) Unknown - pathogenic (recessive) g.94480178G>T g.94014622G>T - - ABCA4_000005 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Germline/De novo (untested) - - - - - DNA SEQ - - retinal disease MEH-other-10 PubMed: Cornelis 2024, Journal: Cornelis 2024 family, 2 affected F - United Kingdom (Great Britain) - - - - - 2 Stéphanie Cornelis
+/. - c.5381C>A r.(?) p.(Ala1794Asp) Unknown - pathogenic (recessive) g.94480178G>T g.94014622G>T - - ABCA4_000005 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Germline/De novo (untested) - - - - - DNA SEQ - - retinal disease MEH-nonmild-35 PubMed: Cornelis 2024, Journal: Cornelis 2024 relative of MEH-other-10 M - United Kingdom (Great Britain) - - - - - 1 Stéphanie Cornelis
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