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.

47 entries on 1 page. Showing entries 1 - 47.
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?/. 12 c.1609C>T r.(?) p.(Arg537Cys) Unknown - likely pathogenic g.94528819G>A g.94063263G>A - - ABCA4_000078 - PubMed: Zernant 2014 - - Germline - - - - - DNA SEQ-NG-I - - STGD1 - PubMed: Zernant 2014 - - - United States African American - - - - 1 Jana Zernant
+?/. 12 c.1609C>T r.(?) p.(Arg537Cys) Maternal (confirmed) - likely pathogenic g.94528819G>A g.94063263G>A CGT > TGT - ABCA4_000078 - PubMed: Briggs 2001 - - Germline - ExAC 2, 121412, 0, 0.00001647 - - - DNA SSCA, SEQ - - STGD1 - PubMed: Briggs 2001 2-generation family, 2 affected M ? - ? - - - - 1 Stéphanie Cornelis
+?/. 12 c.1609C>T r.(?) p.(Arg537Cys) Maternal (confirmed) - likely pathogenic g.94528819G>A g.94063263G>A CGT > TGT - ABCA4_000078 - PubMed: Briggs 2001 - - Germline - ExAC 2, 121412, 0, 0.00001647 - - - DNA SSCA, SEQ - - STGD1 - PubMed: Briggs 2001 Sibling of 032-046; 2-generation family, 2 affected F ? - ? - - - - 1 Stéphanie Cornelis
+/. 12 c.1609C>T r.(?) p.(Arg537Cys) Unknown - pathogenic g.94528819G>A g.94063263G>A CGT > TGT - ABCA4_000078 - PubMed: Briggs 2001 - - Germline - ExAC 2, 121412, 0, 0.00001647 - - - DNA SSCA, SEQ - - STGD1 - PubMed: Briggs 2001 - ? ? - ? - - - - 1 Stéphanie Cornelis
+?/. 12 c.1609C>T r.(?) p.(Arg537Cys) Unknown - likely pathogenic g.94528819G>A g.94063263G>A c.1609C>T - ABCA4_000078 - PubMed: Zernant 2011 - - Germline - 2, 121412, 0, 0.00001647 - - - DNA PE, SEQ-NG, SEQ - APEX ? - PubMed: Zernant 2011 c.1745A>G, p.(Asn582Ser) was also identified in this patient ? ? - ? - - - - 1 Stéphanie Cornelis
+?/. 12 c.1609C>T r.(?) p.(Arg537Cys) Unknown - likely pathogenic g.94528819G>A g.94063263G>A c.1609C>T - ABCA4_000078 - PubMed: Riveiro-Alvarez 2013 - - Germline ? 2, 121412, 0, 0.00001647 - - - DNA PE, DHPLC, MCA, SEQ, MLPA, SEQ-NG - APEX STGD1 - PubMed: Riveiro-Alvarez 2013 - ? ? Spain ? - - - - 1 Stéphanie Cornelis
+/. 12 c.1609C>T r.(1609c>u) p.(Arg537Cys) Parent #1 ACMG pathogenic (recessive) g.94528819G>A g.94063263G>A - - ABCA4_000078 - PubMed: Cornelis 2017, Journal: Cornelis 2017, Journal: Cornelis 2023 - - SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 12 c.1609C>T r.(?) p.(Arg537Cys) Parent #1 - likely pathogenic g.94528819G>A g.94063263G>A - - ABCA4_000078 - PubMed: Khan 2019 - - Germline yes - - - - DNA SEQ, MIPsm - - STGD1 ? PubMed: Khan 2019 - - - France - - - - - 1 Stéphanie Cornelis
+/. - c.1609C>T r.(?) p.(Arg537Cys) Paternal (confirmed) ACMG pathogenic g.94528819G>A - - - ABCA4_000078 This variant is in cis with the c.5881G>A variant and no variant on 2nd allele was identified. Zixi Sun 2020, submitted - - Germline - - - - - DNA SEQ-NG - gene panel STGD 7878 Zixi Sun 2020, submitted - F - China - - - - - 1 Zixi Sun
+/. - c.1609C>T r.(?) p.(Arg537Cys) Unknown - pathogenic (recessive) g.94528819G>A - 1:94528819G>A ENST00000370225.3:c.1609C>T (Arg537Cys) - ABCA4_000078 - PubMed: Carss 2017 - - Germline - - - - - DNA SEQ-NG - WGS retinal disease W000142 PubMed: Carss 2017 - M - United Kingdom (Great Britain) Africa - - - - 1 LOVD
+?/. - c.1609C>T r.(?) p.(Arg537Cys) Both (homozygous) - likely pathogenic g.94528819G>A g.94063263G>A - - ABCA4_000078 - PubMed: Ellingford 2016 - - Germline - - - - - DNA SEQ - 105-gene panel retinal disease 12001090 PubMed: Ellingford 2016 patient - - - - - - - - 1 LOVD
+?/. 12 c.1609C>T r.(?) p.(Arg537Cys) Unknown - likely pathogenic (recessive) g.94528819G>A g.94063263G>A p.R537C - ABCA4_000078 no segregation analysis done PubMed: Jiang 2016 - - Unknown - - - - - DNA PCR, SEQ - - retinal disease 10083 PubMed: Jiang 2016 - - ? China - - - - - 1 Stéphanie Cornelis
+?/. 12 c.1609C>T r.(?) p.(Arg537Cys) Unknown - likely pathogenic (recessive) g.94528819G>A g.94063263G>A c.1609C>T (p.Arg537Cys) - ABCA4_000078 - PubMed: Kellner 2009 - - Unknown - - - - - DNA PE, SEQ - APEX retinal disease 2933 PubMed: Kellner 2009 - F ? Germany - - - - - 1 Stéphanie Cornelis
+?/. 12 c.1609C>T r.(?) p.(Arg537Cys) Unknown - likely pathogenic (recessive) g.94528819G>A g.94063263G>A c.1609C>T (p.Arg537Cys) - ABCA4_000078 - PubMed: Kellner 2009 - - Unknown - - - - - DNA PE, SEQ - APEX retinal disease 2700 PubMed: Kellner 2009 - F ? Germany - - - - - 1 Stéphanie Cornelis
+?/. 12 c.1609C>T r.(?) p.(Arg537Cys) Unknown - likely pathogenic (recessive) g.94528819G>A g.94063263G>A c.1609C>T p.(R537C) - ABCA4_000078 no variant 2nd chromosome PubMed: Schulz 2017 - - Unknown - - - - - DNA arraySEQ, SEQ-NG - RetChip retinal disease Unknown 406 PubMed: Schulz 2017 191 F, 144 M in this study - ? Germany - - - - - 1 Stéphanie Cornelis
+?/. 12 c.1609C>T r.(?) p.(Arg537Cys) Unknown - likely pathogenic (recessive) g.94528819G>A g.94063263G>A c.1609C>T (p.Arg537Cys) - ABCA4_000078 no segregation analysis done PubMed: Zernant 2017 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease 3337 PubMed: Zernant 2017 - - ? United States - - - - - 1 Stéphanie Cornelis
+?/. 12 c.1609C>T r.(?) p.(Arg537Cys) Unknown - likely pathogenic (recessive) g.94528819G>A g.94063263G>A c.1609C>T p.(Arg537Cys) - ABCA4_000078 - PubMed: Del Pozo-Valero 2020 - - Germline - - - - - DNA SEQ-NG - - retinal disease MD-1353 PubMed: Del Pozo-Valero 2020 - - ? Spain - - - - - 1 Stéphanie Cornelis
+?/. 12 c.1609C>T r.(?) p.(Arg537Cys) Both (homozygous) - likely pathogenic (recessive) g.94528819G>A g.94063263G>A ABCA4 c.1609C>T p.(Arg537Cys) hom - ABCA4_000078 - PubMed: Ellingford 2016 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease 12001090 PubMed: Ellingford 2016 - - ? - - - - - - 1 Stéphanie Cornelis
+?/. 12 c.1609C>T r.(?) p.(Arg537Cys) Parent #1 - likely pathogenic (recessive) g.94528819G>A g.94063263G>A c.[1609C>T;5881G>A] p.[Arg537Cys;Gly1961Arg] - ABCA4_000078 - PubMed: Sun 2020 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease 7878 PubMed: Sun 2020 - F ? China China - - - - 1 Stéphanie Cornelis
+?/. 12 c.1609C>T r.(?) p.(Arg537Cys) Unknown - likely pathogenic (recessive) g.94528819G>A g.94063263G>A c.1609C>T p.Arg537Cys Het - ABCA4_000078 - Prevention Genetics - - Unknown - - - - - DNA SEQ-NG - CRD panel retinal disease 2017-055-031 Prevention Genetics - - ? - French Canadian - - - - 1 Stéphanie Cornelis
+?/. 12 c.1609C>T r.(?) p.(Arg537Cys) Unknown - likely pathogenic (recessive) g.94528819G>A g.94063263G>A c.1609C>T p.Arg537Cys het - ABCA4_000078 - Prevention Genetics - - Unknown - - - - - DNA SEQ-NG - STGDMD panel retinal disease 2017-097-183 Prevention Genetics - - ? - - - - - - 1 Stéphanie Cornelis
+?/. 12 c.1609C>T r.(?) p.(Arg537Cys) Unknown - likely pathogenic (recessive) g.94528819G>A g.94063263G>A c.1609C>T, p.Arg537Cys Heterozygous - ABCA4_000078 no variant 2nd chromosome PubMed: Goetz 2020 - - Unknown - 2, 121412, 0, 0.00001647 - - - DNA SEQ-NG-I - solid state SBS retinal disease 4473-5422 PubMed: Goetz 2020 - - ? - - - - - - 1 Stéphanie Cornelis
+?/. 12 c.1609C>T r.(?) p.(Arg537Cys) Unknown - likely pathogenic (recessive) g.94528819G>A g.94063263G>A c.1609C>T, p.Arg537Cys Heterozygous - ABCA4_000078 - PubMed: Goetz 2020 - - Unknown - 2, 121412, 0, 0.00001647 - - - DNA SEQ-NG-I - solid state SBS retinal disease 5266-6360 PubMed: Goetz 2020 - - ? - - - - - - 1 Stéphanie Cornelis
+?/. 12 c.1609C>T r.(?) p.(Arg537Cys) Unknown - likely pathogenic (recessive) g.94528819G>A g.94063263G>A c.1609C>T, p.Arg537Cys Heterozygous - ABCA4_000078 - PubMed: Goetz 2020 - - Unknown - 2, 121412, 0, 0.00001647 - - - DNA SEQ - - retinal disease 539-1050 PubMed: Goetz 2020 - - ? - - - - - - 1 Stéphanie Cornelis
+?/. 12 c.1609C>T r.(?) p.(Arg537Cys) Unknown - likely pathogenic (recessive) g.94528819G>A g.94063263G>A c.1609C>T, p.Arg537Cys Heterozygous - ABCA4_000078 - PubMed: Goetz 2020 - - Unknown - 2, 121412, 0, 0.00001647 - - - DNA SEQ - - retinal disease 6118-7676 PubMed: Goetz 2020 - - ? - - - - - - 1 Stéphanie Cornelis
+?/. 12 c.1609C>T r.(?) p.(Arg537Cys) Parent #2 - likely pathogenic (recessive) g.94528819G>A g.94063263G>A p.R537C - ABCA4_000078 - PubMed: Lee 2014 - - Unknown yes - - - - DNA PE, SEQ - APEX retinal disease P23 PubMed: Lee 2014 possibly reported before by Zernant and/or Burke - ? United States India - - - - 1 Stéphanie Cornelis
+?/. 12 c.1609C>T r.(?) p.(Arg537Cys) Parent #2 - likely pathogenic (recessive) g.94528819G>A g.94063263G>A c.1609C>T (p.Arg537Cys) - ABCA4_000078 - PubMed: Zernant 2017 - - Unknown yes - - - - DNA SEQ-NG-I - - retinal disease 3562 PubMed: Zernant 2017 - - ? United States - - - - - 1 Stéphanie Cornelis
+?/. 12 c.1609C>T r.(?) p.(Arg537Cys) Unknown - likely pathogenic (recessive) g.94528819G>A g.94063263G>A c.1609C>T (p.Arg537Cys) - ABCA4_000078 no segregation analysis done PubMed: Zernant 2017 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease 3170 PubMed: Zernant 2017 - - ? United States - - - - - 1 Stéphanie Cornelis
+?/. 12 c.1609C>T r.(?) p.(Arg537Cys) Unknown - likely pathogenic (recessive) g.94528819G>A g.94063263G>A p.R537C - ABCA4_000078 - PubMed: Tanaka 2018 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease 2 PubMed: Tanaka 2018 - M ? - white - - - - 1 Stéphanie Cornelis
+?/. 12 c.1609C>T r.(?) p.(Arg537Cys) Parent #1 - likely pathogenic (recessive) g.94528819G>A g.94063263G>A c.[455G>A;1609C>T] p.[(Arg152Gln;Arg537Cys)] - ABCA4_000078 - PubMed: Khan 2019 - - Unknown yes - - - - DNA SEQ-NG, MIPsm - smMIPs of exons and few intronic regions retinal disease 67238 PubMed: Khan 2019 - - ? France - - - - - 1 Stéphanie Cornelis
+?/. 12 c.1609C>T r.(?) p.(Arg537Cys) Unknown - likely pathogenic (recessive) g.94528819G>A g.94063263G>A ENST00000370225.3:c.1609C>T p.Arg537Cys 0/1 - ABCA4_000078 - PubMed: Carss 2017 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease W000142 PubMed: Carss 2017 - M ? England Africa - - - - 1 Stéphanie Cornelis
+?/. 12 c.1609C>T r.(?) p.(Arg537Cys) Unknown - likely pathogenic (recessive) g.94528819G>A g.94063263G>A c.1609C>T, p.Arg537Cys Heterozygous - ABCA4_000078 - PubMed: Goetz 2020 - - Unknown - 2, 121412, 0, 0.00001647 - - - DNA SEQ - - retinal disease 314-1696 PubMed: Goetz 2020 - - ? - - - - - - 1 Stéphanie Cornelis
+?/. 12 c.1609C>T r.(?) p.(Arg537Cys) Unknown - likely pathogenic (recessive) g.94528819G>A g.94063263G>A c.1609C>T, p.Arg537Cys Heterozygous - ABCA4_000078 - PubMed: Goetz 2020 - - Unknown - 2, 121412, 0, 0.00001647 - - - DNA SEQ-NG-I - solid state SBS retinal disease 4526-5493 PubMed: Goetz 2020 - - ? - - - - - - 1 Stéphanie Cornelis
+?/. 12 c.1609C>T r.(?) p.(Arg537Cys) Unknown - likely pathogenic (recessive) g.94528819G>A g.94063263G>A c.1609C>T, p.Arg537Cys Heterozygous - ABCA4_000078 - PubMed: Goetz 2020 - - Unknown - 2, 121412, 0, 0.00001647 - - - DNA SEQ - - retinal disease 5131-7134 PubMed: Goetz 2020 - - ? - - - - - - 1 Stéphanie Cornelis
+?/. 12 c.1609C>T r.(?) p.(Arg537Cys) Unknown - likely pathogenic (recessive) g.94528819G>A g.94063263G>A c.1609C>T, p.Arg537Cys Heterozygous - ABCA4_000078 - PubMed: Goetz 2020 - - Unknown - 2, 121412, 0, 0.00001647 - - - DNA SEQ-NG-I - solid state SBS retinal disease 5237-6357 PubMed: Goetz 2020 - - ? - - - - - - 1 Stéphanie Cornelis
+?/. - c.1609C>T r.(?) p.(Arg537Cys) Unknown - likely pathogenic g.94528819G>A g.94063263G>A ABCA4 c.1609C>T, p.Arg537Cys - ABCA4_000078 heterozygous PubMed: Turro 2020 - - Germline/De novo (untested) ? - - - - DNA SEQ-NG-I blood whole genome sequencing retinal disease W000142 PubMed: Turro 2020 only individuals with mutations in retinal disease genes from this publication were inserted into LOVD ? - - - - - - - 1 LOVD
+/. - c.1609C>T r.(?) p.(Arg537Cys) Parent #1 - pathogenic (recessive) g.94528819G>A g.94063263G>A - - ABCA4_000078 - PubMed: Tian 2024 - - Germline - - - - - DNA SEQ - - retinal disease - PubMed: Tian 2024 - F - China - - - - - 1 Lu Tian
+?/. - c.1609C>T r.(?) p.(Arg537Cys) Parent #2 - likely pathogenic (recessive) g.94528819G>A g.94063263G>A [1609C>T;5881G>A] - ABCA4_000078 - PubMed: Tian 2024 - - Germline yes - - - - DNA SEQ - - retinal disease - PubMed: Tian 2024 - F - China - - - - - 1 Lu Tian
+?/. 12 c.1609C>T r.(?) p.(Arg537Cys) Paternal (confirmed) ACMG pathogenic (recessive) g.94528819G>A - - - ABCA4_000078 - Bianco 2023, submitted - - Germline yes - - - - DNA SEQ-NG-I Peripheral Blood Sample - STGD1 601691#12 Bianco 2023, submitted - F no Italy - - - - - 1 Lorenzo Bianco
+/. - c.1609C>T r.(?) p.(Arg537Cys) Parent #1 - pathogenic (recessive) g.94528819G>A g.94063263G>A - - ABCA4_000078 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Germline yes - - - - DNA SEQ-NG - - retinal disease L-0037 PubMed: Cornelis 2024, Journal: Cornelis 2024 - F - France - - - - - 1 Frans Cremers
+/. - c.1609C>T r.(?) p.(Arg537Cys) Parent #1 - pathogenic (recessive) g.94528819G>A g.94063263G>A - - ABCA4_000078 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Germline yes - - - - DNA DHPLC, SEQ - - retinal disease L-0677 PubMed: Cornelis 2024, Journal: Cornelis 2024 - M - France - - - - - 1 Frans Cremers
+/. - c.1609C>T r.(?) p.(Arg537Cys) Parent #1 - pathogenic (recessive) g.94528819G>A g.94063263G>A - - ABCA4_000078 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Germline yes - - - - DNA MCA, SEQ - - retinal disease L-0877 PubMed: Cornelis 2024, Journal: Cornelis 2024 - M - France - - - - - 1 Frans Cremers
+/. - c.1609C>T r.(?) p.(Arg537Cys) Unknown - pathogenic (recessive) g.94528819G>A g.94063263G>A - - ABCA4_000078 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Germline/De novo (untested) - - - - - DNA SEQ - - retinal disease MEH-nonmild-213 PubMed: Cornelis 2024, Journal: Cornelis 2024 family, 2 affected M - United Kingdom (Great Britain) - - - - - 2 Stéphanie Cornelis
+/. - c.1609C>T r.(?) p.(Arg537Cys) Unknown - pathogenic (recessive) g.94528819G>A g.94063263G>A - - ABCA4_000078 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Germline/De novo (untested) - - - - - DNA SEQ - - retinal disease MEH-other-64 PubMed: Cornelis 2024, Journal: Cornelis 2024 relative of MEH-nonmild-213 F - United Kingdom (Great Britain) - - - - - 1 Stéphanie Cornelis
+/. - c.1609C>T r.(?) p.(Arg537Cys) Both (homozygous) - pathogenic (recessive) g.94528819G>A g.94063263G>A - - ABCA4_000078 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Germline/De novo (untested) - - - - - DNA SEQ - - retinal disease MEH-nonmild-451 PubMed: Cornelis 2024, Journal: Cornelis 2024 - M - United Kingdom (Great Britain) - - - - - 1 Stéphanie Cornelis
+/. 12 c.1609C>T r.(?) p.(Arg537Cys) Parent #1 ACMG pathogenic g.94528819G>A g.94063263G>A - - ABCA4_000078 - PubMed: Hitti-Malin 2024, Journal: Hitti-Malin 2024 - - Germline - - - - - DNA SEQ, SEQ-NG - smMIP-based 105 iMD/AMD genes macular dystrophy 072803 PubMed: Hitti-Malin 2024, Journal: Hitti-Malin 2024 - M - - - - - - - 1 Rebekkah Hitti-Malin
+/. - c.1609C>T r.(?) p.(Arg537Cys) Unknown - pathogenic g.94528819G>A - - - ABCA4_000078 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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