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.

39 entries on 1 page. Showing entries 1 - 39.
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Effect     

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AscendingDNA change (cDNA)     

RNA change     

Protein     

Allele     

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Clinical classification     

DNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

Frequency     

Re-site     

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Methylation     

Template     

Technique     

Tissue     

Remarks     

Disease     

ID_report     

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Remarks     

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+?/. - c.4253+5G>A r.4129_4253del p.(Ile1377Hisfs*3) Unknown - likely pathogenic g.94496547C>A g.94030991C>A ABCA4 c.4253+5G>T, - ABCA4_000559 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.4253+5G>A r.spl? p.? Unknown - likely pathogenic g.94496547C>T g.94030991C>T - - ABCA4_000559 - PubMed: Ben Yosef 2023 - - Unknown - - - - - DNA MIP - - STGD Fam12 PubMed: Ben Yosef 2023 family, 1 affected M no Israel Ethiopia;Jew - - - - 1 Tamar Ben-Yosef
+/. - c.4253+5G>A r.4129_4253del p.(Ile1377Hisfs*3) Unknown - pathogenic (recessive) g.94496547C>T g.94030991C>T - - ABCA4_000559 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Unknown - - - - - DNA SEQ-NG - - retinal disease L-0362 PubMed: Cornelis 2024, Journal: Cornelis 2024 - F - France - - - - - 1 Frans Cremers
+/. - c.4253+5G>A r.4129_4253del p.(Ile1377Hisfs*3) Parent #1 - pathogenic (recessive) g.94496547C>T g.94030991C>T - - ABCA4_000559 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Germline yes - - - - DNA SEQ-NG - - retinal disease L-0432 PubMed: Cornelis 2024, Journal: Cornelis 2024 - M - France - - - - - 1 Frans Cremers
+/. - c.4253+5G>A r.4129_4253del p.(Ile1377Hisfs*3) Parent #1 - pathogenic (recessive) g.94496547C>T g.94030991C>T - - ABCA4_000559 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Germline yes - - - - DNA SEQ-NG - - retinal disease L-0633 PubMed: Cornelis 2024, Journal: Cornelis 2024 - M - France - - - - - 1 Frans Cremers
+/. - c.4253+5G>A r.4129_4253del p.(Ile1377Hisfs*3) Parent #1 - pathogenic (recessive) g.94496547C>T g.94030991C>T - - ABCA4_000559 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Germline yes - - - - DNA DHPLC, SEQ - - retinal disease L-0865 PubMed: Cornelis 2024, Journal: Cornelis 2024 - M - France - - - - - 1 Frans Cremers
+/. - c.4253+5G>A r.4129_4253del p.(Ile1377Hisfs*3) Unknown - pathogenic (recessive) g.94496547C>T g.94030991C>T - - ABCA4_000559 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Unknown - - - - - DNA SEQ-NG - - retinal disease L-0480 PubMed: Cornelis 2024, Journal: Cornelis 2024 - M - France - - - - - 1 Frans Cremers
+/. - c.4253+5G>A r.(4129_4253del) p.(Ile1377Hisfs*3) Unknown ACMG pathogenic (recessive) g.94496547C>T g.94030991C>T - - ABCA4_000559 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Germline/De novo (untested) - - - - - DNA SEQ - - retinal disease MEH-nonmild-167 PubMed: Cornelis 2024, Journal: Cornelis 2024 - M - United Kingdom (Great Britain) - - - - - 1 Stéphanie Cornelis
+/. - c.4253+5G>A r.(4129_4253del) p.(Ile1377Hisfs*3) Unknown - pathogenic (recessive) g.94496547C>T g.94030991C>T - - ABCA4_000559 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Germline/De novo (untested) - - - - - DNA SEQ - - retinal disease MEH-mild-173 PubMed: Cornelis 2024, Journal: Cornelis 2024 - M - United Kingdom (Great Britain) - - - - - 1 Stéphanie Cornelis
+/. - c.4253+5G>A r.(4129_4253del) p.(Ile1377Hisfs*3) Unknown - pathogenic (recessive) g.94496547C>T g.94030991C>T - - ABCA4_000559 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Germline/De novo (untested) - - - - - DNA SEQ - - retinal disease MEH-other-14 PubMed: Cornelis 2024, Journal: Cornelis 2024 - F - United Kingdom (Great Britain) - - - - - 1 Stéphanie Cornelis
+?/. 28i c.4253+5G>T r.spl p.? Unknown - likely pathogenic g.94496547C>A g.94030991C>A 4253+5G>T - ABCA4_000559 - PubMed: Lewis 1999 - - Germline ? ExAC 1, 120798, 0, 0.000008278 - - - DNA SSCA, HD, SEQ - - STGD1 - PubMed: Lewis 1999 3-generation family, 2 affected M ? United States white - - - - 1 Stéphanie Cornelis
+?/. 28i c.4253+5G>T r.spl p.? Unknown - likely pathogenic g.94496547C>A g.94030991C>A c.4253+5G>T - ABCA4_000559 - PubMed: Fujinami 2013 - - Germline - 1, 120798, 0, 0.000008278 - - - DNA PCR, SEQ - - STGD1 - PubMed: Fujinami 2013 - ? ? - ? - - - - 1 Stéphanie Cornelis
?/. 28i c.4253+5G>T r.spl? p.(?) Unknown - VUS g.94496547C>A g.94030991C>A 4253+5G/T - ABCA4_000559 - PubMed: Allikmets 1998 - - Germline - 1, 120798, 0, 0.000008278 - - - DNA SEQ - - STGD1 - PubMed: Allikmets 1998 ? ? ? - ? - - - - 1 Stéphanie Cornelis
+?/. 28i c.4253+5G>T r.spl? p.(?) Maternal (inferred) - likely pathogenic g.94496547C>A g.94030991C>A c.4253+5G>T - ABCA4_000559 - PubMed: Duncker 2015 - - Germline ? 1, 120798, 0, 0.000008278 - - - DNA PE, SEQ-NG-I - APEX ? - PubMed: Duncker 2015 ? F ? - Black - - - - 1 Stéphanie Cornelis
+/. 28i c.4253+5G>T r.[4129_4253del,=] p.[Ile1377HisfsTer3,=] Parent #1 ACMG pathogenic (recessive) g.94496547C>A g.94030991C>A - - ABCA4_000559 - PubMed: Cornelis 2017, Journal: Cornelis 2017, Journal: Cornelis 2023 - - SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
+/. 28i c.4253+5G>T r.[4129_4253del,=] p.[(Ile1377Hisfs∗3,=)] Unknown - NA g.94496547C>A g.94030991C>A - - ABCA4_000559 expression cloning midigene splicing construct: 0.054 correctly spliced RNA PubMed: Sangermano 2018 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
+?/. 28i c.4253+5G>T r.spl p.? Parent #1 - likely pathogenic g.94496547C>A g.94030991C>A - - ABCA4_000559 - PubMed: Khan 2019 - - Unknown no - - - - DNA SEQ, MIPsm - - STGD1 ? PubMed: Khan 2019 - - - France - - - - - 1 Stéphanie Cornelis
+/. - c.4253+5G>T r.spl? p.? Unknown - pathogenic (recessive) g.94496547C>A - 1:94496547C>A ENST00000370225.3:c.4253+5G>T - ABCA4_000559 - PubMed: Carss 2017 - - Germline - - - - - DNA SEQ-NG - WGS retinal disease G007718 PubMed: Carss 2017 - F - United Kingdom (Great Britain) Europe - - - - 1 LOVD
+?/. 28i c.4253+5G>T r.[4129_4253del,=] p.[Ile1377Hisfs*3,=] Unknown - likely pathogenic (recessive) g.94496547C>A g.94030991C>A c.4253+5G>T (p.?) - ABCA4_000559 no segregation analysis done PubMed: Zernant 2017 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease 3313 PubMed: Zernant 2017 - - ? United States - - - - - 1 Stéphanie Cornelis
+?/. 28i c.4253+5G>T r.[4129_4253del,=] p.[Ile1377Hisfs*3,=] Unknown - likely pathogenic (recessive) g.94496547C>A g.94030991C>A c.4253+5G>T p.[Ile1377Hisfs*3,=] - ABCA4_000559 no segregation analysis done PubMed: Khan 2019 - - Unknown - - - - - DNA SEQ-NG, MIPsm - smMIPs of exons and few intronic regions retinal disease 67240 PubMed: Khan 2019 - - ? France - - - - - 1 Stéphanie Cornelis
+?/. 28i c.4253+5G>T r.[4129_4253del,=] p.[Ile1377Hisfs*3,=] Unknown - likely pathogenic (recessive) g.94496547C>A g.94030991C>A c.IVS28+5G>T, Heterozygous - ABCA4_000559 - PubMed: Goetz 2020 - - Unknown - 1, 120798, 0, 0.000008278 - - - DNA SEQ - - retinal disease 2583-3267 PubMed: Goetz 2020 - - ? - - - - - - 1 Stéphanie Cornelis
+?/. 28i c.4253+5G>T r.[4129_4253del,=] p.[Ile1377Hisfs*3,=] Unknown - likely pathogenic (recessive) g.94496547C>A g.94030991C>A c.4253+5G>T, Heterozygous - ABCA4_000559 no variant 2nd chromosome PubMed: Goetz 2020 - - Unknown - 1, 120798, 0, 0.000008278 - - - DNA SEQ-NG-I - solid state SBS retinal disease 4070-4950 PubMed: Goetz 2020 - - ? - - - - - - 1 Stéphanie Cornelis
+?/. 28i c.4253+5G>T r.[4129_4253del,=] p.[Ile1377Hisfs*3,=] Unknown - likely pathogenic (recessive) g.94496547C>A g.94030991C>A c.4253+5G>T, Heterozygous - ABCA4_000559 - PubMed: Goetz 2020 - - Unknown - 1, 120798, 0, 0.000008278 - - - DNA SEQ-NG-I - solid state SBS retinal disease 5744-6945 PubMed: Goetz 2020 - - ? - - - - - - 1 Stéphanie Cornelis
+?/. 28i c.4253+5G>T r.[4129_4253del,=] p.[Ile1377Hisfs*3,=] Unknown - likely pathogenic (recessive) g.94496547C>A g.94030991C>A IVS28+5G>T - ABCA4_000559 - PubMed: Burke 2011 - - Unknown - - - - - DNA PE, SEQ - APEX retinal disease 3 PubMed: Burke 2011 - F ? United States - - - - - 1 Stéphanie Cornelis
+?/. 28i c.4253+5G>T r.[4129_4253del,=] p.[Ile1377Hisfs*3,=] Parent #2 - likely pathogenic (recessive) g.94496547C>A g.94030991C>A IVS28_x005F_x0003_5G_x005F_x0004_T - ABCA4_000559 - PubMed: Cideciyan 2012PubMed: Huang 2014 - - Unknown yes - - - - DNA ? - - retinal disease P2‡; P9‡ PubMed: Cideciyan 2012PubMed: Huang 2014 Sibling of P17 F ? United States - - - - - 1 Stéphanie Cornelis
+?/. 28i c.4253+5G>T r.[4129_4253del,=] p.[Ile1377Hisfs*3,=] Parent #2 - likely pathogenic (recessive) g.94496547C>A g.94030991C>A IVS28_x005F_x0003_5G_x005F_x0004_T - ABCA4_000559 - PubMed: Cideciyan 2012 - - Unknown yes - - - - DNA ? - - retinal disease P17‡ PubMed: Cideciyan 2012 - F ? United States - - - - - 1 Stéphanie Cornelis
+?/. 28i c.4253+5G>T r.[4129_4253del,=] p.[Ile1377Hisfs*3,=] Parent #2 - likely pathogenic (recessive) g.94496547C>A g.94030991C>A c.4253+5G>T - - ABCA4_000559 - PubMed: Cideciyan 2015 - - Unknown yes - - - - DNA SEQ-NG-I - - retinal disease 76 PubMed: Cideciyan 2015 sibling of patients 77 & 78 F ? - - - - - - 1 Stéphanie Cornelis
+?/. 28i c.4253+5G>T r.[4129_4253del,=] p.[Ile1377Hisfs*3,=] Parent #2 - likely pathogenic (recessive) g.94496547C>A g.94030991C>A c.4253+5G>T - - ABCA4_000559 - PubMed: Cideciyan 2015 - - Unknown yes - - - - DNA SEQ-NG-I - - retinal disease 77 PubMed: Cideciyan 2015 sibling of patients 76 & 78 F ? - - - - - - 1 Stéphanie Cornelis
+?/. 28i c.4253+5G>T r.[4129_4253del,=] p.[Ile1377Hisfs*3,=] Parent #2 - likely pathogenic (recessive) g.94496547C>A g.94030991C>A c.4253+5G>T - - ABCA4_000559 - PubMed: Cideciyan 2015 - - Unknown yes - - - - DNA SEQ-NG-I - - retinal disease 78 PubMed: Cideciyan 2015 sibling of patients 76 & 77 F ? - - - - - - 1 Stéphanie Cornelis
+?/. 28i c.4253+5G>T r.[4129_4253del,=] p.[Ile1377Hisfs*3,=] Unknown - likely pathogenic (recessive) g.94496547C>A g.94030991C>A c.4253+5G>T (p.?) - ABCA4_000559 no segregation analysis done PubMed: Zernant 2017 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease 3241 PubMed: Zernant 2017 - - ? United States - - - - - 1 Stéphanie Cornelis
+?/. 28i c.4253+5G>T r.[4129_4253del,=] p.[Ile1377Hisfs*3,=] Parent #2 - likely pathogenic (recessive) g.94496547C>A g.94030991C>A c.4253+5G>T (p.?) - ABCA4_000559 - PubMed: Zernant 2017 - - Unknown yes - - - - DNA SEQ-NG-I - - retinal disease 4542 PubMed: Zernant 2017 - - ? United States - - - - - 1 Stéphanie Cornelis
+?/. 28i c.4253+5G>T r.[4129_4253del,=] p.[Ile1377Hisfs*3,=] Unknown - likely pathogenic (recessive) g.94496547C>A g.94030991C>A ENST00000370225.3:c.4253+5G>T NA 0/1 - ABCA4_000559 - PubMed: Carss 2017 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease G007718 PubMed: Carss 2017 - F ? England white - - - - 1 Stéphanie Cornelis
+?/. 28i c.4253+5G>T r.[4129_4253del,=] p.[Ile1377Hisfs*3,=] Unknown - likely pathogenic (recessive) g.94496547C>A g.94030991C>A c.4253+5G>T Intronic het - ABCA4_000559 - Prevention Genetics - - Unknown - - - - - DNA SEQ-NG - STGDMD panel retinal disease 2017-153-181 Prevention Genetics - - ? - - - - - - 1 Stéphanie Cornelis
+?/. 28i c.4253+5G>T r.[4129_4253del,=] p.[Ile1377Hisfs*3,=] Unknown - likely pathogenic (recessive) g.94496547C>A g.94030991C>A c.4253+5G>T, Heterozygous - ABCA4_000559 - PubMed: Goetz 2020 - - Unknown - 1, 120798, 0, 0.000008278 - - - DNA SEQ-NG-I - solid state SBS retinal disease 2812-4390 PubMed: Goetz 2020 - - ? - - - - - - 1 Stéphanie Cornelis
+/. - c.4253+5G>T r.[(4129_4253del,=)] p.[(Ile1377Hisfs*3,=)] Unknown - pathogenic (recessive) g.94496547C>A g.94030991C>A - - ABCA4_000559 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Germline/De novo (untested) - - - - - DNA SEQ - - retinal disease MEH-mild-32 PubMed: Cornelis 2024, Journal: Cornelis 2024 - F - United Kingdom (Great Britain) - - - - - 1 Stéphanie Cornelis
+/. - c.4253+5G>T r.[(4129_4253del,=)] p.[(Ile1377Hisfs*3,=)] Unknown - pathogenic (recessive) g.94496547C>A g.94030991C>A - - ABCA4_000559 - 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.4253+5G>T r.[(4129_4253del,=)] p.[(Ile1377Hisfs*3,=)] Unknown - pathogenic (recessive) g.94496547C>A g.94030991C>A - - ABCA4_000559 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Germline/De novo (untested) - - - - - DNA SEQ - - retinal disease MEH-mild-268 PubMed: Cornelis 2024, Journal: Cornelis 2024 - F - United Kingdom (Great Britain) - - - - - 1 Stéphanie Cornelis
+/. - c.4253+5G>T r.[(4129_4253del,=)] p.[(Ile1377Hisfs*3,=)] Unknown - pathogenic (recessive) g.94496547C>A g.94030991C>A - - ABCA4_000559 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Germline/De novo (untested) - - - - - DNA SEQ - - retinal disease MEH-nonmild-400 PubMed: Cornelis 2024, Journal: Cornelis 2024 - F - United Kingdom (Great Britain) - - - - - 1 Stéphanie Cornelis
+?/. 28i c.4253+5G>T r.[4129_4253del,=] p.[Ile1377Hisfs*3,=] Parent #1 ACMG likely pathogenic g.94496547C>A g.94030991C>A - - ABCA4_000559 - PubMed: Hitti-Malin 2024, Journal: Hitti-Malin 2024 - - Germline - - - - - DNA SEQ, SEQ-NG - smMIP-based 105 iMD/AMD genes macular dystrophy 072800 PubMed: Hitti-Malin 2024, Journal: Hitti-Malin 2024 - M - - - - - - - 1 Rebekkah Hitti-Malin
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