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.

20 entries on 1 page. Showing entries 1 - 20.
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AscendingDNA change (cDNA)     

RNA change     

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DNA change (genomic) (hg19)     

DNA change (hg38)     

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ClinVar ID     

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Methylation     

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ID_report     

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?/. 36 c.5056G>A r.(?) p.(Val1686Met) Unknown - likely pathogenic g.94485278C>T g.94019722C>T - - ABCA4_000101 - PubMed: Zernant 2014 - - Germline - - - - - DNA SEQ-NG-I - - STGD1 - PubMed: Zernant 2014 - - - United States African American - - - - 1 Jana Zernant
+?/. 36 c.5056G>A r.(?) p.(Val1686Met) Unknown - likely pathogenic g.94485278C>T g.94019722C>T V1686M - ABCA4_000101 - PubMed: Cideciyan 2009 - - Germline ? 55, 106206, 0, 0.0005179 - - - DNA ? - - STGD1 - PubMed: Cideciyan 2009 ? F ? - ? - - - - 1 Stéphanie Cornelis
?/. 36 c.5056G>A r.(5056g>a) p.(Val1686Met) Parent #1 ACMG VUS g.94485278C>T g.94019722C>T - - ABCA4_000101 variant frequency lower in a group of >3000 likely Caucasian STGD1 patients than in the ExAC non-Finnish population PubMed: Cornelis 2017, Journal: Cornelis 2017, Journal: Cornelis 2023 - - SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.5056G>A r.(?) p.(Val1686Met) Unknown - VUS g.94485278C>T g.94019722C>T ABCA4(NM_000350.3):c.5056G>A (p.V1686M, p.(Val1686Met)) - ABCA4_000101 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. 36 c.5056G>A r.(?) p.(Val1686Met) Unknown - VUS g.94485278C>T g.94019722C>T c.5056G>A; p.Val1686Met c.6730–19G>A; splicing - ABCA4_000101 - PubMed: van Huet 2015 - - Unknown - - - - - DNA PE, SEQ - APEX retinal disease Unknown 1151 PubMed: van Huet 2015 - - ? Netherlands - - - - - 1 Stéphanie Cornelis
?/. 36 c.5056G>A r.(?) p.(Val1686Met) Unknown - VUS g.94485278C>T g.94019722C>T c.5056G>A p.(Val1686Met) - ABCA4_000101 no variant 2nd chromosome PubMed: Hanany 2018 - - Unknown - - - - - DNA SEQ-NG - - retinal disease Unknown 1185 PubMed: Hanany 2018 mutations were not reported per patient, so a second mutation might be present - ? Israel - - - - - 1 Stéphanie Cornelis
?/. 36 c.5056G>A r.(?) p.(Val1686Met) Unknown - VUS g.94485278C>T g.94019722C>T c.5056G>A, p.Val686Met Heterozygous - ABCA4_000101 - PubMed: Goetz 2020 - - Unknown - 55, 106206, 0, 0.0005179 - - - DNA SEQ-NG-I - solid state SBS retinal disease 3677-5397 PubMed: Goetz 2020 - - ? - - - - - - 1 Stéphanie Cornelis
?/. 36 c.5056G>A r.(?) p.(Val1686Met) Unknown - VUS g.94485278C>T g.94019722C>T p.V1686M - ABCA4_000101 - PubMed: Duncker 2013 - - Unknown - - - - - DNA PE, SEQ-NG - APEX retinal disease P8 PubMed: Duncker 2013 - M no United States white - - - - 1 Stéphanie Cornelis
?/. 36 c.5056G>A r.(?) p.(Val1686Met) Unknown - VUS g.94485278C>T g.94019722C>T c.5056G>A (p.Val1686Met) - ABCA4_000101 no segregation analysis done PubMed: Zernant 2017 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease 3351 PubMed: Zernant 2017 - - ? United States - - - - - 1 Stéphanie Cornelis
?/. 36 c.5056G>A r.(?) p.(Val1686Met) Parent #2 - VUS g.94485278C>T g.94019722C>T c.5056G>A (p.Val1686Met) - ABCA4_000101 - PubMed: Zernant 2017 - - Unknown yes - - - - DNA SEQ-NG-I - - retinal disease 3474 PubMed: Zernant 2017 - - ? United States - - - - - 1 Stéphanie Cornelis
?/. 36 c.5056G>A r.(?) p.(Val1686Met) Unknown - VUS g.94485278C>T g.94019722C>T c.5056G>A,p.Val1686Met - ABCA4_000101 - PubMed: Fujinami 2019 - - Unknown - - - - - DNA SEQ-NG - SEQ-NG (143 cases), APEX (44 cases), SSCP (24 cases), SEQ (134) retinal disease 12037 PubMed: Fujinami 2019 191 F, 154 M in this study - ? United States - - - - - 1 Stéphanie Cornelis
?/. 36 c.5056G>A r.(?) p.(Val1686Met) Unknown - VUS g.94485278C>T g.94019722C>T c.5056G>A p.Val1686Met Het - ABCA4_000101 - Prevention Genetics - - Unknown - - - - - DNA SEQ-NG - IRD panel retinal disease 2018-328-059 Prevention Genetics - - ? - Africa - - - - 1 Stéphanie Cornelis
?/. 36 c.5056G>A r.(?) p.(Val1686Met) Unknown - VUS g.94485278C>T g.94019722C>T c.5056G>A, p.Val1686Met Heterozygous - ABCA4_000101 - PubMed: Goetz 2020 - - Unknown - 55, 106206, 0, 0.0005179 - - - DNA SEQ-NG-I - solid state SBS retinal disease 2702-4273 PubMed: Goetz 2020 - - ? - - - - - - 1 Stéphanie Cornelis
?/. - c.5056G>A r.(?) p.(Val1686Met) Parent #1 - VUS g.94485278C>T g.94019722C>T - - ABCA4_000101 no variant 2nd chromosome PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Germline yes - - - - DNA SEQ-NG-I - - retinal disease L-0123 PubMed: Cornelis 2024, Journal: Cornelis 2024 - F - France - - - - - 1 Frans Cremers
?/. - c.5056G>A r.(?) p.(Val1686Met) Unknown - VUS g.94485278C>T g.94019722C>T - - ABCA4_000101 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Germline/De novo (untested) - - - - - DNA SEQ - - retinal disease MEH-nonmild-217 PubMed: Cornelis 2024, Journal: Cornelis 2024 - M - United Kingdom (Great Britain) - - - - - 1 Stéphanie Cornelis
?/. - c.5056G>A r.(?) p.(Val1686Met) Unknown - VUS g.94485278C>T g.94019722C>T - - ABCA4_000101 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Germline/De novo (untested) - - - - - DNA SEQ - - retinal disease MEH-nonmild-427 PubMed: Cornelis 2024, Journal: Cornelis 2024 - M - United Kingdom (Great Britain) - - - - - 1 Stéphanie Cornelis
-?/. - c.5056G>A r.(?) p.(Val1686Met) Unknown - likely benign g.94485278C>T - ABCA4(NM_000350.3):c.5056G>A (p.V1686M, p.(Val1686Met)) - ABCA4_000101 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 36 c.5056G>A r.(?) p.(Val1686Met) Parent #2 ACMG likely pathogenic g.94485278C>T g.94019722C>T - - ABCA4_000101 carries likely causative variants in more than one gene PubMed: Hitti-Malin 2024, Journal: Hitti-Malin 2024 - - Germline - - - - - DNA SEQ, SEQ-NG - smMIP-based 105 iMD/AMD genes macular dystrophy 074688 PubMed: Hitti-Malin 2024, Journal: Hitti-Malin 2024 - F - - - - - - - 1 Rebekkah Hitti-Malin
+?/. - c.5056G>A r.(?) p.(Val1686Met) Unknown ACMG likely pathogenic g.94485278C>T g.94019722C>T - - ABCA4_000101 case unsolved PubMed: Hitti-Malin 2024, Journal: Hitti-Malin 2024 - - Germline - - - - - DNA SEQ - smMIP-based 105 iMD/AMD genes macular dystrophy 073389 PubMed: Hitti-Malin 2024, Journal: Hitti-Malin 2024 - - - - - - - - - 1 Johan den Dunnen
?/. - c.5056G>A r.(?) p.(Val1686Met) Unknown - VUS g.94485278C>T - ABCA4(NM_000350.3):c.5056G>A (p.V1686M, p.(Val1686Met)) - ABCA4_000101 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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