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.

41 entries on 1 page. Showing entries 1 - 41.
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AscendingDNA change (cDNA)     

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DNA change (genomic) (hg19)     

DNA change (hg38)     

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ClinVar ID     

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+?/. 28i c.4253+5G>A r.spl p.? Unknown - likely pathogenic g.94496547C>T g.94030991C>T c.4253+5G>A - ABCA4_000560 - PubMed: Paloma 2001 - - Germline - - - - - DNA PCR, SSCA, SEQ - - CORD - PubMed: Paloma 2001 - ? ? Spain ? - - - - 1 Stéphanie Cornelis
+?/. 28i c.4253+5G>A r.spl p.? Unknown - likely pathogenic g.94496547C>T g.94030991C>T c.4253+5G>A - ABCA4_000560 - PubMed: Paloma 2001 - - Germline - - - - - DNA PCR, SSCA, SEQ - - CORD - PubMed: Paloma 2001 - ? ? Spain ? - - - - 1 Stéphanie Cornelis
?/. 28i c.4253+5G>A r.spl p.? Unknown - VUS g.94496547C>T g.94030991C>T IVS28+5G>A - ABCA4_000560 - PubMed: Rivera 2000 - - Germline - - - - - DNA DGGE, DHPLC, SSCA, PCR, SEQ - - STGD1 - PubMed: Rivera 2000 - ? ? Germany ? - - - - 1 Stéphanie Cornelis
?/. 28i c.4253+5G>A r.spl p.? Unknown - VUS g.94496547C>T g.94030991C>T IVS28+5g>a - ABCA4_000560 found no variant 2nd chromosome PubMed: Passerini 2010 - - Germline - - - - - DNA PCR, DHPLC, SEQ - - STGD1 - PubMed: Passerini 2010 - ? ? Italy ? - - - - 1 Stéphanie Cornelis
?/. 28i c.4253+5G>A r.spl p.? Unknown - VUS g.94496547C>T g.94030991C>T c.4253+5G>A, - - ABCA4_000560 - PubMed: Roberts 2012 - - Germline - - - - - DNA PE - APEX ? - PubMed: Roberts 2012 cohort of 73% Stargardt disease, 16% Retinitis pigmentosa, 11% macular dystrophy; variants described separately, additional variant may be present; 9 homozygote, 90 presumed compound heterozygotes (41 verified biallelic, family studies) ? ? South Africa In this cohort: 84% white, 9% African, 4% Indian, 3% mixed ancestry - - - - 1 Stéphanie Cornelis
+?/. 28i c.4253+5G>A r.spl p.? Unknown - likely pathogenic g.94496547C>T g.94030991C>T c.4253+5G>A - ABCA4_000560 - PubMed: Riveiro-Alvarez 2013 - - Germline ? - - - - DNA PE, DHPLC, MCA, SEQ, MLPA, SEQ-NG - APEX STGD1 - PubMed: Riveiro-Alvarez 2013 - ? ? Spain ? - - - - 1 Stéphanie Cornelis
+?/. 28i c.4253+5G>A r.spl p.? Unknown - likely pathogenic g.94496547C>T g.94030991C>T c.4253+5G>A - ABCA4_000560 - PubMed: Riveiro-Alvarez 2013 - - Germline ? - - - - DNA PE, DHPLC, MCA, SEQ, MLPA, SEQ-NG - APEX STGD1 - PubMed: Riveiro-Alvarez 2013 - ? ? Spain ? - - - - 1 Stéphanie Cornelis
?/. 28i c.4253+5G>A r.spl p.? Unknown - VUS g.94496547C>T g.94030991C>T c.4253+5G>A - ABCA4_000560 - PubMed: Riveiro-Alvarez 2013 - - Germline - - - - - DNA PE, DHPLC, MCA, SEQ, MLPA, SEQ-NG - APEX STGD1 - PubMed: Riveiro-Alvarez 2013 - ? ? Spain ? - - - - 1 Stéphanie Cornelis
?/. 28i c.4253+5G>A r.spl p.? Unknown - VUS g.94496547C>T g.94030991C>T c.4253+5G>A - ABCA4_000560 - PubMed: Riveiro-Alvarez 2013 - - Germline - - - - - DNA PE, DHPLC, MCA, SEQ, MLPA, SEQ-NG - APEX STGD1 - PubMed: Riveiro-Alvarez 2013 - ? ? Spain ? - - - - 1 Stéphanie Cornelis
+?/. 28i c.4253+5G>A r.spl p.? Unknown - likely pathogenic g.94496547C>T g.94030991C>T c.4253+5G>A - ABCA4_000560 - PubMed: Bauwens 2014 - - Germline - - - - - DNA SEQ-NG-I, PCR, SEQ - - ? - PubMed: Bauwens 2014 2-generation family, 2 affected M ? Belgium ? - - - - 1 Stéphanie Cornelis
+?/. 28i c.4253+5G>A r.spl p.? Unknown - likely pathogenic g.94496547C>T g.94030991C>T c.4253+5G>A - ABCA4_000560 - PubMed: Bauwens 2014 - - Germline - - - - - DNA SEQ-NG-I, PCR, SEQ - - ? - PubMed: Bauwens 2014 - M ? Belgium ? - - - - 1 Stéphanie Cornelis
+/. 28i c.4253+5G>A r.4129_4253del p.Ile1377HisfsTerTer3 Parent #1 ACMG pathogenic (recessive) g.94496547C>T g.94030991C>T - - ABCA4_000560 variant significantly enriched in >3000 likely Caucasian STGD1 patients compared to the non-Finnish ExAC population PubMed: Cornelis 2017, Journal: Cornelis 2017, Journal: Cornelis 2023 - - SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
+/+? 28i c.4253+5G>A r.spl p.? Maternal (confirmed) - pathogenic g.94496547C>T g.94030991C>T - - ABCA4_000560 - - - - Germline yes - - - - DNA SEQ-NG-I - Gene Panel (79 IRD genes) STGD IRD4.0_#43 Manuscript under review (González-del Pozo et al., 2018) - M no Spain - - - - - 1 María González-del Pozo
+/. 28i c.4253+5G>A r.4129_4253del p.(Ile1377Hisfs∗3) Unknown - NA g.94496547C>T g.94030991C>T - - ABCA4_000560 expression cloning midigene splicing construct: no correctly spliced RNA PubMed: Sangermano 2018 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
+?/. 28i c.4253+5G>A r.spl p.? Parent #1 - likely pathogenic g.94496547C>T g.94030991C>T - - ABCA4_000560 unknown variant 2nd allele PubMed: Khan 2019 - - Unknown no - - - - DNA SEQ, MIPsm - - STGD1 ? PubMed: Khan 2019 - - - Germany - - - - - 1 Stéphanie Cornelis
+/. 28i c.4253+5G>A r.spl? p.? Parent #1 - pathogenic (recessive) g.94496547C>T g.94030991C>T - - ABCA4_000560 - PubMed: Hu 2019 - - Germline - - - - - DNA SEQ-NG peripheral blood - STGD1 P6 PubMed: Hu 2019 - M yes China Asian 11y - yes none 1 Fangyuan Hu
+/. - c.4253+5G>A r.spl? p.? Unknown - pathogenic (recessive) g.94496547C>T - 1:94496547C>T ENST00000370225.3:c.4253+5G>A - ABCA4_000560 - PubMed: Carss 2017 - - Germline - - - - - DNA SEQ-NG - WGS retinal disease G001416 PubMed: Carss 2017 - M - United Kingdom (Great Britain) Europe - - - - 1 LOVD
+?/. - c.4253+5G>A r.[(del,=)] p.? Parent #1 - likely pathogenic g.94496547C>T g.94030991C>T - - ABCA4_000560 effect on splicing predicted from mini-gene splicing assay PubMed: Soens 2017 - - Germline - - - - - DNA SEQ - - retinal disease SRF_268 PubMed: Soens 2017 possible duplicate - - - - - - - - 1 LOVD
+?/. 28i c.4253+5G>A r.4129_4253del p.(Ile1377Hisfs*3) Unknown - likely pathogenic (recessive) g.94496547C>T g.94030991C>T c.4253+5G>A - ABCA4_000560 no variant 2nd chromosome; no segregation analysis done PubMed: Jiang 2016 - - Unknown - - - - - DNA PCR, SEQ - - retinal disease 10182 PubMed: Jiang 2016 - - ? China - - - - - 1 Stéphanie Cornelis
+?/. 28i c.4253+5G>A r.4129_4253del p.(Ile1377Hisfs*3) Unknown - likely pathogenic (recessive) g.94496547C>T g.94030991C>T c.4253+5G>A p.(?) - ABCA4_000560 no variant 2nd chromosome PubMed: Schulz 2017 - - Unknown - - - - - DNA arraySEQ, SEQ-NG - RetChip retinal disease Unknown 468 PubMed: Schulz 2017 191 F, 144 M in this study - ? Germany - - - - - 1 Stéphanie Cornelis
+?/. 28i c.4253+5G>A r.4129_4253del p.(Ile1377Hisfs*3) Parent #1 - likely pathogenic (recessive) g.94496547C>T g.94030991C>T c.4253+5G>A (p.?) - ABCA4_000560 - PubMed: Zernant 2017 - - Unknown yes - - - - DNA SEQ-NG-I - - retinal disease 3990 PubMed: Zernant 2017 - - ? United States - - - - - 1 Stéphanie Cornelis
+?/. 28i c.4253+5G>A r.4129_4253del p.(Ile1377Hisfs*3) Parent #1 - likely pathogenic (recessive) g.94496547C>T g.94030991C>T c.4253 + 5G > A - ABCA4_000560 - PubMed: González-del Pozo 2018 - - Unknown yes - - - - DNA SEQ-NG-I - - retinal disease Fam A: II:1 PubMed: González-del Pozo 2018 - M ? Spain - - - - - 1 Stéphanie Cornelis
+?/. 28i c.4253+5G>A r.4129_4253del p.(Ile1377Hisfs*3) Unknown - likely pathogenic (recessive) g.94496547C>T g.94030991C>T c.[4253+5G>A] - ABCA4_000560 no segregation analysis done PubMed: Bauwens 2019 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease P8G7 PubMed: Bauwens 2019 - F ? - - - - - - 1 Stéphanie Cornelis
+?/. 28i c.4253+5G>A r.4129_4253del p.(Ile1377Hisfs*3) Unknown - likely pathogenic (recessive) g.94496547C>T g.94030991C>T c.4253+5G>A - ABCA4_000560 - PubMed: Hu 2019 - - Unknown - - - - - DNA SEQ-NG - - retinal disease P6 PubMed: Hu 2019 - M ? China China - - - - 1 Stéphanie Cornelis
+?/. 28i c.4253+5G>A r.4129_4253del p.(Ile1377Hisfs*3) Unknown - likely pathogenic (recessive) g.94496547C>T g.94030991C>T c.4253+5G>A - ABCA4_000560 no variant 2nd chromosome PubMed: Hu 2019 - - Unknown - - - - - DNA SEQ-NG - - retinal disease Unknown 1056 PubMed: Hu 2019 - - ? China China - - - - 1 Stéphanie Cornelis
+?/. 28i c.4253+5G>A r.4129_4253del p.(Ile1377Hisfs*3) Parent #1 - likely pathogenic (recessive) g.94496547C>T g.94030991C>T c.4253+5G>A p.(Ile1377Hisfs*3) - ABCA4_000560 - PubMed: Del Pozo-Valero 2020 - - Germline yes - - - - DNA SEQ-NG - - retinal disease MD-0245 PubMed: Del Pozo-Valero 2020 - - ? Spain - - - - - 1 Stéphanie Cornelis
+?/. 28i c.4253+5G>A r.4129_4253del p.(Ile1377Hisfs*3) Both (homozygous) - likely pathogenic (recessive) g.94496547C>T g.94030991C>T c.4253+5G>A p.(Ile1377Hisfs*3) - ABCA4_000560 - PubMed: Del Pozo-Valero 2020 - - Germline - - - - - DNA SEQ-NG - - retinal disease RP-2956 PubMed: Del Pozo-Valero 2020 - - yes Spain - - - - - 1 Stéphanie Cornelis
+?/. 28i c.4253+5G>A r.4129_4253del p.(Ile1377Hisfs*3) Unknown - likely pathogenic (recessive) g.94496547C>T g.94030991C>T c.4253+5G>A p.(Ile1377Hisfs?3) - ABCA4_000560 - PubMed: Sun 2020 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease 5585 PubMed: Sun 2020 - F ? China China - - - - 1 Stéphanie Cornelis
+?/. 28i c.4253+5G>A r.4129_4253del p.(Ile1377Hisfs*3) Unknown - likely pathogenic (recessive) g.94496547C>T g.94030991C>T c.4253+5G>A Splice - ABCA4_000560 - PubMed: Fakin 2016 - - Unknown - - - - - DNA ? - - retinal disease 20816 PubMed: Fakin 2016 - - ? United Kingdom (Great Britain) - - - - - 1 Stéphanie Cornelis
+?/. 28i c.4253+5G>A r.4129_4253del p.(Ile1377Hisfs*3) Unknown - likely pathogenic (recessive) g.94496547C>T g.94030991C>T c.4253+5G>A p.(Ile1377Hisfs*3) - ABCA4_000560 - PubMed: Del Pozo-Valero 2020 - - Germline - - - - - DNA SEQ-NG - - retinal disease MD-0536 PubMed: Del Pozo-Valero 2020 - - ? Spain - - - - - 1 Stéphanie Cornelis
+?/. 28i c.4253+5G>A r.4129_4253del p.(Ile1377Hisfs*3) Parent #2 - likely pathogenic (recessive) g.94496547C>T g.94030991C>T c.4253+5G>A p.(Ile1377Hisfs*3) - ABCA4_000560 - PubMed: Del Pozo-Valero 2020 - - Germline yes - - - - DNA SEQ-NG - - retinal disease MD-1102 PubMed: Del Pozo-Valero 2020 - - ? Spain - - - - - 1 Stéphanie Cornelis
+?/. 28i c.4253+5G>A r.4129_4253del p.(Ile1377Hisfs*3) Unknown - likely pathogenic (recessive) g.94496547C>T g.94030991C>T c.4253+5G>A p.(Ile1377Hisfs*3) - ABCA4_000560 - PubMed: Del Pozo-Valero 2020 - - Germline - - - - - DNA SEQ-NG - - retinal disease RP-2867 PubMed: Del Pozo-Valero 2020 - - ? Spain - - - - - 1 Stéphanie Cornelis
+?/. 28i c.4253+5G>A r.4129_4253del p.(Ile1377Hisfs*3) Unknown - likely pathogenic (recessive) g.94496547C>T g.94030991C>T ENST00000370225.3:c.4253+5G>A NA 0/1 - ABCA4_000560 - PubMed: Carss 2017 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease G001416 PubMed: Carss 2017 - M ? England white - - - - 1 Stéphanie Cornelis
+?/. 28i c.4253+5G>A r.4129_4253del p.(Ile1377Hisfs*3) Unknown - likely pathogenic (recessive) g.94496547C>T g.94030991C>T c.4253‡5G>A; p.? - ABCA4_000560 - PubMed: Rodríguez-Muños 2020 - - Unknown - - - - - DNA SEQ-NG - - retinal disease RPN-283 PubMed: Rodríguez-Muños 2020 - M ? Spain Spain - - - - 1 Stéphanie Cornelis
+?/. 28i c.4253+5G>A r.4129_4253del p.(Ile1377Hisfs*3) Unknown - likely pathogenic (recessive) g.94496547C>T g.94030991C>T c.4253+5G>A Intronic het - ABCA4_000560 - Prevention Genetics - - Unknown - - - - - DNA SEQ - ABCA4 retinal disease 2013-255-028 Prevention Genetics - - ? - Belgian, Icelandic, French - - - - 1 Stéphanie Cornelis
+?/. 28i c.4253+5G>A r.(?) p.(?) Both (homozygous) - likely pathogenic g.94496547C>T g.94030991C>T ABCA4 IVS28 c.4253+5G>A p.(Ile1377Hisfs*3), IVS28 c.4253+5G>A p.(Ile1377Hisfs*3) - ABCA4_000560 homozygous PubMed: Martin Merida 2019 - - Germline/De novo (untested) ? - - - - DNA SEQ-NG-I - - retinal disease RP-2520 PubMed: Martin Merida 2019 - ? - Spain - - - - - 1 LOVD
+/. - c.4253+5G>A r.spl? p.(?) Unknown ACMG pathogenic g.94496547C>T g.94030991C>T ABCA4:NM_000350.2 c.4253+5G>A, p.? - ABCA4_000560 heterozygous, individual solved, variant causal PubMed: Rodriguez-Munoz 2020 - - Germline yes - - - - DNA SEQ-NG-I blood - retinal disease RPN-283 PubMed: Rodriguez-Munoz 2020 family fRPN-126, proband M - Spain - - - - - 1 LOVD
+?/. - c.4253+5G>A r.4129_4253del p.(Ile1377Hisfs*3) Unknown - likely pathogenic g.94496547C>T g.94030991C>T ABCA4 c.4253+5G>A, - ABCA4_000560 heterozygous PubMed: Turro 2020 - - Germline/De novo (untested) ? - - - - DNA SEQ-NG-I blood whole genome sequencing retinal disease G001416 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.4253+5G>A r.spl p.(Ile1377HisfsTer3) Parent #1 - pathogenic (recessive) g.94496547C>T g.94030991C>T - - ABCA4_000560 - PubMed: Tian 2024 - - Germline yes - - - - DNA SEQ - - retinal disease - PubMed: Tian 2024 - F - China - - - - - 1 Lu Tian
+?/. 28i c.4253+5G>A r.4129_4253del p.(Ile1377Hisfs*3) Unknown - likely pathogenic (recessive) g.94496547C>T - c.4253+5G>A - ABCA4_000560 - Sangermano 2018 - - Unknown - - - - - DNA MIPsm - smMIPs-based complete ABCA4 gene retinal disease 71085 PubMed: Khan 2020 - F - Japan - - - - - 1 LOVD
+?/. 28i c.4253+5G>A r.4129_4253del p.(Ile1377Hisfs*3) Unknown - likely pathogenic (recessive) g.94496547C>T - c.4253+5G>A - ABCA4_000560 unknown variant 2nd chromosome Sangermano 2018 - - Unknown ? - - - - DNA MIPsm - smMIPs-based complete ABCA4 gene retinal disease 66831 PubMed: Khan 2019PubMed: Khan 2020 - F - Germany - - - - - 1 LOVD
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