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.

30 entries on 1 page. Showing entries 1 - 30.
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Effect     

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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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Disease     

ID_report     

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?/. 30 c.4519G>A r.(?) p.(Gly1507Arg) Unknown - VUS g.94495021C>T g.94029465C>T p.Gly1507Arg - ABCA4_000538 - PubMed: Fujinami 2013 - - Germline ? 3, 22706, 0, 0.0001321 - - - DNA PCR, SEQ - - STGD1 - PubMed: Fujinami 2013 - ? ? - ? - - - - 1 Stéphanie Cornelis
+?/. 30 c.4519G>A r.(?) p.(Gly1507Arg) Unknown - likely pathogenic g.94495021C>T g.94029465C>T p.G1507R - ABCA4_000538 - PubMed: Sciezynska 2015 - - Germline ? 3, 22706, 0, 0.0001321 - - - DNA SEQ-NG-R - - STGD1 - PubMed: Ścieżyńska 2015 ? ? ? - Poland - - - - 1 Stéphanie Cornelis
+/. 30 c.4519G>A r.(4519g>a) p.(Gly1507Arg) Parent #1 ACMG pathogenic (recessive) g.94495021C>T g.94029465C>T - - ABCA4_000538 - PubMed: Cornelis 2017, Journal: Cornelis 2017, Journal: Cornelis 2023 - - SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.4519G>A r.(?) p.(Gly1507Arg) Unknown - likely pathogenic g.94495021C>T g.94029465C>T - - ABCA4_000538 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.4519G>A r.(?) p.(Gly1507Arg) Parent #1 - pathogenic g.94495021C>T g.94029465C>T - - ABCA4_000538 - - - - Germline - - - - - DNA SEQ-NG-I Peripheral blood - retinal disease - - - F - - - - - - - 1 Marta de Castro-Miró
?/. 30 c.4519G>A r.(?) p.(Gly1507Arg) Parent #1 - VUS g.94495021C>T g.94029465C>T - - ABCA4_000538 unknown variant 2nd allele PubMed: Khan 2019 - - Unknown no - - - - DNA SEQ, MIPsm - - STGD1 ? PubMed: Khan 2019 - - - Germany - - - - - 1 Stéphanie Cornelis
+/. - c.4519G>A r.(?) p.(Gly1507Arg) Unknown - pathogenic g.94495021C>T g.94029465C>T - - ABCA4_000538 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 - rs568792949 Germline - 2/1204 cases with retinitis pigmentosa - - - DNA SEQ-NG - - retinal disease - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 analysis 1204 retinitis pigmentosa cases - - Japan - - - - - 2 Yoshito Koyanagi
+/. - c.4519G>A r.(?) p.(Gly1507Arg) Unknown - pathogenic (recessive) g.94495021C>T - 1:94495021C>T ENST00000370225.3:c.4519G>A (Gly1507Arg) - ABCA4_000538 - PubMed: Carss 2017 - - Germline - - - - - DNA SEQ-NG - WGS retinal disease G007718 PubMed: Carss 2017 - F - United Kingdom (Great Britain) Europe - - - - 1 LOVD
?/. 30 c.4519G>A r.(?) p.(Gly1507Arg) Parent #1 - VUS g.94495021C>T g.94029465C>T Gly1507Arg - ABCA4_000538 - PubMed: Huckfeldt 2016 - - Unknown - - - - - DNA SSCA, TaqMan - SNPlex retinal disease 1 PubMed: Huckfeldt 2016 mother of patient 2 and 3 F ? United States - - - - - 1 Stéphanie Cornelis
?/. 30 c.4519G>A r.(?) p.(Gly1507Arg) Unknown - VUS g.94495021C>T g.94029465C>T c.4519G>A p.(G1507R) - ABCA4_000538 no variant 2nd chromosome PubMed: Schulz 2017 - - Unknown - - - - - DNA arraySEQ, SEQ-NG - RetChip retinal disease Unknown 479 PubMed: Schulz 2017 191 F, 144 M in this study - ? Germany - - - - - 1 Stéphanie Cornelis
?/. 30 c.4519G>A r.(?) p.(Gly1507Arg) Unknown - VUS g.94495021C>T g.94029465C>T c.4519G.A - ABCA4_000538 - PubMed: Klufas 2017 - - Unknown - - - - - DNA SEQ - - retinal disease 18 PubMed: Klufas 2017 - F ? United States - - - - - 1 Stéphanie Cornelis
?/. 30 c.4519G>A r.(?) p.(Gly1507Arg) Unknown - VUS g.94495021C>T g.94029465C>T c.4519G>A p.(Gly1507Arg) - ABCA4_000538 - PubMed: Del Pozo-Valero 2020 - - Germline - - - - - DNA SEQ-NG - - retinal disease MD-0341 PubMed: Del Pozo-Valero 2020 - - ? Spain - - - - - 1 Stéphanie Cornelis
?/. 30 c.4519G>A r.(?) p.(Gly1507Arg) Unknown - VUS g.94495021C>T g.94029465C>T ENST00000370225.3:c.4519G>A p.Gly1507Arg 0/1 - ABCA4_000538 - PubMed: Carss 2017 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease G007718 PubMed: Carss 2017 - F ? England white - - - - 1 Stéphanie Cornelis
?/. 30 c.4519G>A r.(?) p.(Gly1507Arg) Unknown - VUS g.94495021C>T g.94029465C>T c.4519G>A p.(Gly1507Arg) - ABCA4_000538 no variant 2nd chromosome PubMed: Koyanagi 2019 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease Unknown 1299 PubMed: Koyanagi 2019 mutations were not reported per patient. - ? - Japan - - - - 1 Stéphanie Cornelis
?/. 30 c.4519G>A r.(?) p.(Gly1507Arg) Unknown - VUS g.94495021C>T g.94029465C>T c.4519G>A p.(Gly1507Arg) - ABCA4_000538 no variant 2nd chromosome PubMed: Koyanagi 2019 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease Unknown 1306 PubMed: Koyanagi 2019 mutations were not reported per patient. - ? - Japan - - - - 1 Stéphanie Cornelis
?/. 30 c.4519G>A r.(?) p.(Gly1507Arg) Parent #2 - VUS g.94495021C>T g.94029465C>T c.4519G>A p.(Gly1507Arg) - ABCA4_000538 - PubMed: Lambertus 2016 - - Unknown - - - - - DNA ? - - retinal disease 33 PubMed: Lambertus 2016 - - ? Netherlands - - - - - 1 Stéphanie Cornelis
?/. 30 c.4519G>A r.(?) p.(Gly1507Arg) Unknown - VUS g.94495021C>T g.94029465C>T c.4519G>A - ABCA4_000538 no segregation analysis done PubMed: Sung 2020 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease F08 P09 PubMed: Sung 2020 - - ? - Han - - - - 1 Stéphanie Cornelis
?/. 30 c.4519G>A r.(?) p.(Gly1507Arg) Unknown - VUS g.94495021C>T g.94029465C>T c.4519G>A - ABCA4_000538 no segregation analysis done PubMed: Sung 2020 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease F25 P29 PubMed: Sung 2020 - - ? - Han - - - - 1 Stéphanie Cornelis
?/. 30 c.4519G>A r.(?) p.(Gly1507Arg) Unknown - VUS g.94495021C>T g.94029465C>T c.4519G>A p.Gly1507Arg het - ABCA4_000538 - Prevention Genetics - - Unknown - - - - - DNA SEQ - ABCA4 retinal disease 2014-279-009 Prevention Genetics - - ? - Hispanic - - - - 1 Stéphanie Cornelis
+?/. - c.4519G>A r.(?) p.(Gly1507Arg) Unknown - likely pathogenic g.94495021C>T g.94029465C>T ABCA4 c.4519G>A, p.Gly1507Arg - ABCA4_000538 heterozygous PubMed: Turro 2020 - - Germline/De novo (untested) ? - - - - DNA SEQ-NG-I blood whole genome sequencing retinal disease G007718 PubMed: Turro 2020 only individuals with mutations in retinal disease genes from this publication were inserted into LOVD ? - (United Kingdom (Great Britain)) - - - - - 1 LOVD
+?/. - c.4519G>A r.(?) p.(Gly1507Arg) Unknown ACMG likely pathogenic g.94495021C>T g.94029465C>T ABCA4 c.4070C>A(;)4519G>A, V2: c.4519G>A, (p.Gly1507Arg) - ABCA4_000538 alleles in cis or trans; heterozygous PubMed: Chen 2021 - - Unknown ? - - - - DNA SEQ-NG blood 212 inherited retinal disease-related genes retinal disease F267 PubMed: Chen 2021 - ? - Taiwan - - - - - 1 LOVD
+?/. - c.4519G>A r.(?) p.(Gly1507Arg) Unknown ACMG likely pathogenic g.94495021C>T g.94029465C>T ABCA4 c.1804C>T(;)4519G>A, V2: c.4519G>A, (p.Gly1507Arg) - ABCA4_000538 alleles in cis or trans; heterozygous PubMed: Chen 2021 - - Unknown ? - - - - DNA SEQ-NG blood 212 inherited retinal disease-related genes retinal disease F091 PubMed: Chen 2021 - ? - Taiwan - - - - - 1 LOVD
+?/. - c.4519G>A r.(?) p.(Gly1507Arg) Unknown - likely pathogenic g.94495021C>T g.94029465C>T ABCA4 c.1804C>T(;)4519G>A; p.(Gly1507Arg) - ABCA4_000538 heterozygous PubMed: Chen 2021 - - Germline/De novo (untested) ? Taiwan Biobank: 0; GnomAD_exome_East: 0; GnomAD_All: 0.000162 - - - DNA SEQ-NG - targeted 212 IRD-related genes retinal disease F091 PubMed: Chen 2021 - - - Taiwan - - - - - 1 LOVD
+?/. - c.4519G>A r.(?) p.(Gly1507Arg) Unknown - likely pathogenic g.94495021C>T g.94029465C>T ABCA4 c.4070C>A(;)4519G>A; p.(Gly1507Arg) - ABCA4_000538 heterozygous PubMed: Chen 2021 - - Germline/De novo (untested) ? Taiwan Biobank: 0; GnomAD_exome_East: 0; GnomAD_All: 0.000162 - - - DNA SEQ-NG - targeted 212 IRD-related genes retinal disease F267 PubMed: Chen 2021 - - - Taiwan - - - - - 1 LOVD
?/. 30 c.4519G>A r.(?) p.(Gly1507Arg) Unknown - VUS g.94495021C>T - c.4519G>A - ABCA4_000538 unknown variant 2nd chromosome PubMed: Khan 2020 - - Unknown ? - - - - DNA MIPsm - smMIPs-based complete ABCA4 gene retinal disease 66805 PubMed: Khan 2019PubMed: Khan 2020 - M - Germany - - - - - 1 LOVD
+?/. 30 c.4519G>A r.(?) p.(Gly1507Arg) Parent #2 ACMG pathogenic (recessive) g.94495021C>T - - - ABCA4_000538 - Bianco 2023, submitted - - Germline yes - - - - DNA SEQ-NG-I Peripheral Blood Sample - STGD1 601691#42 Bianco 2023, submitted - M no Italy - - - - - 1 Lorenzo Bianco
+/. - c.4519G>A r.(?) p.(Gly1507Arg) Unknown - pathogenic (recessive) g.94495021C>T g.94029465C>T - - ABCA4_000538 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Germline/De novo (untested) - - - - - DNA SEQ - - retinal disease MEH-nonmild-193 PubMed: Cornelis 2024, Journal: Cornelis 2024 - F - United Kingdom (Great Britain) - - - - - 1 Stéphanie Cornelis
+/. - c.4519G>A r.(?) p.(Gly1507Arg) Unknown - pathogenic (recessive) g.94495021C>T g.94029465C>T - - ABCA4_000538 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Germline/De novo (untested) - - - - - DNA SEQ - - retinal disease MEH-other-95 PubMed: Cornelis 2024, Journal: Cornelis 2024 - M - United Kingdom (Great Britain) - - - - - 1 Stéphanie Cornelis
+/. - c.4519G>A r.(?) p.(Gly1507Arg) Unknown ACMG pathogenic g.94495021C>T g.94029465C>T - - ABCA4_000538 case unsolved PubMed: Hitti-Malin 2024, Journal: Hitti-Malin 2024 - - Germline - - - - - DNA SEQ - smMIP-based 105 iMD/AMD genes macular dystrophy 072010 PubMed: Hitti-Malin 2024, Journal: Hitti-Malin 2024 - - - - - - - - - 1 Johan den Dunnen
+?/. 30 c.4519G>A r.(4519g>a) p.(Gly1507Arg) Unknown ACMG likely pathogenic g.94495021C>T g.94029465C>T - - ABCA4_000538 combination of variants not reported - - - Germline - - - - - DNA SEQ-NG - - STGD1 - - - - - Mexico - - - - - 1 Oscar Francisco Chacón Camacho
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