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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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Allele     

Classification method     

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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Frequency     

Re-site     

VIP     

Methylation     

Template     

Technique     

Tissue     

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Disease     

ID_report     

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Age at death     

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Data_av     

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Panel size     

Owner     
+?/. 45 c.6221G>T r.(?) p.(Gly2074Val) Unknown - likely pathogenic g.94467475C>A g.94001919C>A - - ABCA4_000171 - PubMed: Alapati 2014 - - Germline - ExAC 5, 121364, 0, 0.0000412 - - - DNA PE, PCR, SEQ - APEX CORD - PubMed: Alapati 2014 - ? ? United States American - - - - 1 Stéphanie Cornelis
+?/. 45 c.6221G>T r.(?) p.(Gly2074Val) Unknown - likely pathogenic g.94467475C>A g.94001919C>A c.6221G>T - ABCA4_000171 - PubMed: Chacón-Camacho 2013 - - Germline - - - - - DNA PCR, SEQ - - STGD1 - PubMed: Chacón-Camacho 2013 - ? ? Mexico ? - - - - 1 Stéphanie Cornelis
+/. 45 c.6221G>T r.(6221g>u) p.(Gly2074Val) Parent #1 ACMG pathogenic (recessive) g.94467475C>A g.94001919C>A - - ABCA4_000171 - PubMed: Cornelis 2017, Journal: Cornelis 2017, Journal: Cornelis 2023 - - SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.6221G>T r.(?) p.(Gly2074Val) Parent #1 - pathogenic g.94467475C>A g.94001919C>A - - ABCA4_000171 - PubMed: Zenteno 2020 - - Germline - 1/143 cases - - - DNA SEQ, SEQ-NG - 199 gene panel retinal disease 1175 PubMed: Zenteno 2020 - - - Mexico - - - - - 1 Johan den Dunnen
+/. - c.6221G>T r.(?) p.(Gly2074Val) Parent #2 - pathogenic g.94467475C>A g.94001919C>A - - ABCA4_000171 - PubMed: Zenteno 2020 - - Germline - 1/143 cases - - - DNA SEQ, SEQ-NG - 199 gene panel retinal disease 3529 PubMed: Zenteno 2020 - - - Mexico - - - - - 1 Johan den Dunnen
+/. 45 c.6221G>T r.(?) p.(Gly2074Val) Unknown - pathogenic g.94467475C>A g.94001919C>A G2074V - ABCA4_000171 - PubMed: Sheremet 2017 - - Germline - - - - - DNA SEQ peripheral blood lymphocytes - retinal disease Pat11 PubMed: Sheremet 2017 patient M - Russia - - - - - 1 LOVD
+?/. 45 c.6221G>T r.(?) p.(Gly2074Val) Both (homozygous) - likely pathogenic (recessive) g.94467475C>A g.94001919C>A p.G2074V - ABCA4_000171 - PubMed: Sheremet 2017 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease 11 PubMed: Sheremet 2017 - M ? Russia Russia - - - - 1 Stéphanie Cornelis
+?/. 45 c.6221G>T r.(?) p.(Gly2074Val) Unknown - likely pathogenic (recessive) g.94467475C>A g.94001919C>A c.6221G>T p.Gly2074Val - ABCA4_000171 - PubMed: Zenteno 2019 - - Unknown - - - - - DNA SEQ-NG - - retinal disease 3,529 PubMed: Zenteno 2019 - - ? Mexico Mexico - - - - 1 Stéphanie Cornelis
+?/. 45 c.6221G>T r.(?) p.(Gly2074Val) Unknown - likely pathogenic (recessive) g.94467475C>A g.94001919C>A c.6221G>T p.Gly2074Val het - ABCA4_000171 - Prevention Genetics - - Unknown - - - - - DNA SEQ - ABCA4 retinal disease 2014-279-009 Prevention Genetics - - ? - Hispanic - - - - 1 Stéphanie Cornelis
+?/. 45 c.6221G>T r.(?) p.(Gly2074Val) Unknown - likely pathogenic (recessive) g.94467475C>A g.94001919C>A c.6221G>T p.Gly2074Val het - ABCA4_000171 - Prevention Genetics - - Unknown - - - - - DNA SEQ-NG - ABCA4 Panel retinal disease 2019-283-181 Prevention Genetics - - ? - - - - - - 1 Stéphanie Cornelis
+?/. 45 c.6221G>T r.(?) p.(Gly2074Val) Unknown - likely pathogenic (recessive) g.94467475C>A g.94001919C>A c.6221G>T p.Gly2074Val Het - ABCA4_000171 - Prevention Genetics - - Unknown - - - - - DNA SEQ-NG - IRD panel retinal disease 2020-205-244 Prevention Genetics - - ? - - - - - - 1 Stéphanie Cornelis
+?/. 45 c.6221G>T r.(?) p.(Gly2074Val) Unknown - likely pathogenic (recessive) g.94467475C>A g.94001919C>A c.6221G>T, p.Gly2074Val Heterozygous - ABCA4_000171 no variant 2nd chromosome PubMed: Goetz 2020 - - Unknown - - - - - DNA SEQ-NG-I - solid state SBS retinal disease 2508-3150 PubMed: Goetz 2020 - - ? - - - - - - 1 Stéphanie Cornelis
+?/. 45 c.6221G>T r.(?) p.(Gly2074Val) Unknown - likely pathogenic (recessive) g.94467475C>A g.94001919C>A c.6221G>T, p.Gly2074Val Heterozygous - ABCA4_000171 - PubMed: Goetz 2020 - - Unknown - - - - - DNA SEQ-NG-I - solid state SBS retinal disease 3193-3931 PubMed: Goetz 2020 - - ? - - - - - - 1 Stéphanie Cornelis
+?/. 45 c.6221G>T r.(?) p.(Gly2074Val) Unknown - likely pathogenic (recessive) g.94467475C>A g.94001919C>A c.6221G.T - ABCA4_000171 - PubMed: Klufas 2017 - - Unknown - - - - - DNA SEQ - - retinal disease 18 PubMed: Klufas 2017 - F ? United States - - - - - 1 Stéphanie Cornelis
+?/. 45 c.6221G>T r.(?) p.(Gly2074Val) Unknown - likely pathogenic (recessive) g.94467475C>A g.94001919C>A c.6221G>T,p.Gly2074Val - ABCA4_000171 - PubMed: Fujinami 2019 - - Unknown - - - - - DNA SEQ-NG - SEQ-NG (143 cases), APEX (44 cases), SSCP (24 cases), SEQ (134) retinal disease 17019 PubMed: Fujinami 2019 191 F, 154 M in this study - ? United States - - - - - 1 Stéphanie Cornelis
+?/. 45 c.6221G>T r.(?) p.(Gly2074Val) Unknown - likely pathogenic (recessive) g.94467475C>A g.94001919C>A c.6221G>T, p.Gly2074Val Heterozygous - ABCA4_000171 - PubMed: Goetz 2020 - - Unknown - - - - - DNA SEQ-NG-I - solid state SBS retinal disease 2856-4444 PubMed: Goetz 2020 - - ? - - - - - - 1 Stéphanie Cornelis
+?/. 45 c.6221G>T r.(?) p.(Gly2074Val) Unknown - likely pathogenic (recessive) g.94467475C>A g.94001919C>A c.6221G>T, p.Gly2074Val Heterozygous - ABCA4_000171 - PubMed: Goetz 2020 - - Unknown - - - - - DNA SEQ-NG-I - solid state SBS retinal disease 498-1008 PubMed: Goetz 2020 - - ? - - - - - - 1 Stéphanie Cornelis
+/. - c.6221G>T r.(?) p.(Gly2074Val) Unknown ACMG pathogenic g.94467475C>A - - - ABCA4_000171 - Villafuerte-de la Cruz RA, et al., 2023. Submitted ClinVar-99266 rs367839100 Germline yes - - - - DNA SEQ-NG-I buccal swab - STGD 2899624 Villafuerte-de la Cruz RA, et al., 2023. Submitted - F no Mexico Hispanic - - - none 1 Rocio Villafuerte-de la Cruz
+/. - c.6221G>T r.(?) p.(Gly2074Val) Unknown ACMG pathogenic g.94467475C>A - - - ABCA4_000171 - Villafuerte-de la Cruz RA, et al., 2023. Submitted {CV:689736 rs367839100 Germline yes - - - - DNA SEQ-NG-I buccal swab - STGD 3607210 Villafuerte-de la Cruz RA, et al., 2023. Submitted - M no (Mexico) Hispanic - - - none 1 Rocio Villafuerte-de la Cruz
+/. 45 c.6221G>T r.(?) p.(Gly2074Val) Parent #2 ACMG pathogenic g.94467475C>A g.94001919C>A - - ABCA4_000171 - PubMed: Hitti-Malin 2024, Journal: Hitti-Malin 2024 - - Germline - - - - - DNA SEQ, SEQ-NG - smMIP-based 105 iMD/AMD genes macular dystrophy 072804 PubMed: Hitti-Malin 2024, Journal: Hitti-Malin 2024 - M - - - - - - - 1 Rebekkah Hitti-Malin
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