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.

43 entries on 1 page. Showing entries 1 - 43.
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Effect     

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AscendingDNA change (cDNA)     

RNA change     

Protein     

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Classification method     

Clinical classification     

DNA change (genomic) (hg19)     

DNA change (hg38)     

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ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

Frequency     

Re-site     

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Methylation     

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Technique     

Tissue     

Remarks     

Disease     

ID_report     

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Remarks     

Gender     

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Age at death     

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+/. 14 c.2023G>A r.(?) p.(Val675Ile) Unknown - pathogenic g.94526230C>T g.94060674C>T p.Val675lle - ABCA4_000760 - PubMed: Fujinami 2013, PubMed: Fujinami 2013 - - Germline ? 6, 120152, 0, 0.00004994 - - - DNA PCR, SEQ - - STGD1 - PubMed: Fujinami 2013, PubMed: Fujinami 2013 - ? ? - ? - - - - 1 Stéphanie Cornelis
+?/. 14 c.2023G>A r.(?) p.(Val675Ile) Unknown - likely pathogenic g.94526230C>T g.94060674C>T p.V675I - ABCA4_000760 - PubMed: Duncker 2015 - - Germline - 6, 120152, 0, 0.00004994 - - - DNA PE, SEQ, SEQ-NG-I - APEX ? - PubMed: Duncker 2015 - M ? - Indian - - - - 1 Stéphanie Cornelis
?/. 14 c.2023G>A r.(?) p.(Val675Ile) Unknown - VUS g.94526230C>T g.94060674C>T p.V675I - ABCA4_000760 - PubMed: Sciezynska 2015 - - Germline - 6, 120152, 0, 0.00004994 - - - DNA SEQ-NG-R - - STGD1 - PubMed: Ścieżyńska 2015 ? ? ? - Poland - - - - 1 Stéphanie Cornelis
+/. 14 c.2023G>A r.(2023g>a) p.(Val675Ile) Parent #1 ACMG pathogenic (recessive) g.94526230C>T g.94060674C>T - - ABCA4_000760 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 - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.2023G>A r.(?) p.(Val675Ile) Parent #2 - likely pathogenic (recessive) g.94526230C>T g.94060674C>T - - ABCA4_000760 - PubMed: Lee 2017, Journal: Lee 2017 - - Germline - - - - - DNA SEQ-NG-I - - STGD1 - PubMed: Lee 2017, Journal: Lee 2017 - - - - Pakistani - - - - 29 Jana Zernant
+/. - c.2023G>A r.(?) p.(Val675Ile) Unknown - pathogenic g.94526230C>T g.94060674C>T - - ABCA4_000760 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. 14 c.2023G>A r.(?) p.(Val675Ile) Parent #2 - VUS g.94526230C>T g.94060674C>T - - ABCA4_000760 - PubMed: Hu 2019 - - Germline - - - - - DNA SEQ-NG peripheral blood gene panel STGD1 P42 PubMed: Hu 2019 - M no China Asian - - no none 1 Fangyuan Hu
?/. 14 c.2023G>A r.(?) p.(Val675Ile) Parent #1 - VUS g.94526230C>T g.94060674C>T - - ABCA4_000760 - PubMed: Hu 2019 - - Germline - - - - - DNA SEQ-NG peripheral blood gene panel STGD1 P52 PubMed: Hu 2019 - M no China Asian - - no none 1 Fangyuan Hu
+/. - c.2023G>A r.(?) p.(Val675Ile) Unknown - pathogenic (recessive) g.94526230C>T - 1:94526230C>T ENST00000370225.3:c.2023G>A (Val675Ile) - ABCA4_000760 - PubMed: Carss 2017 - - Germline - - - - - DNA SEQ-NG - WGS retinal disease G009828 PubMed: Carss 2017 - F - United Kingdom (Great Britain) Europe - - - - 1 LOVD
+?/. 14 c.2023G>A r.(?) p.(Val675Ile) Unknown ACMG likely pathogenic g.94526230C>T - - - ABCA4_000760 - Mena et al., 2020 submitted - rs575453437 Germline ? - - - - DNA SEQ-NG-IT blood gene panel (ABCA4, CNGB3, ELOVL4, PROM1) STGD1 - Mena et al., 2020 submitted. - F no Argentina - - - - - 1 Marcela Mena
?/. - c.2023G>A r.(?) p.(Val675Ile) Parent #1 - VUS g.94526230C>T - [514G>A,2023G>A,6148G>C] - ABCA4_000760 - PubMed: Riera 2017 - - Germline - - - - - DNA SEQ-NG - 212-gene panel retinal disease Fi15/32 PubMed: Riera 2017 patient - - Spain - - - - - 1 LOVD
?/. 14 c.2023G>A r.(?) p.(Val675Ile) Unknown - VUS g.94526230C>T g.94060674C>T p.V675I - ABCA4_000760 no variant 2nd chromosome; not in Suppl.1 PubMed: Jiang 2016 - - Unknown - - - - - DNA PCR, SEQ - - retinal disease 10228 PubMed: Jiang 2016 - - ? China - - - - - 1 Stéphanie Cornelis
?/. 14 c.2023G>A r.(?) p.(Val675Ile) Unknown - VUS g.94526230C>T g.94060674C>T p.(V675I) - ABCA4_000760 - PubMed: Lee 2017 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease 90155 PubMed: Lee 2017 - M ? - Pakistan - - - - 1 Stéphanie Cornelis
?/. 14 c.2023G>A r.(?) p.(Val675Ile) Unknown - VUS g.94526230C>T g.94060674C>T c.2023G>A, p.Val675Ile - ABCA4_000760 - PubMed: Fujinami 2019 - - Unknown - - - - - DNA SEQ-NG - SEQ-NG (143 cases), APEX (44 cases), SSCP (24 cases), SEQ (134) retinal disease 15108 PubMed: Fujinami 2019 191 F, 154 M in this study - ? Germany - - - - - 1 Stéphanie Cornelis
?/. 14 c.2023G>A r.(?) p.(Val675Ile) Unknown - VUS g.94526230C>T g.94060674C>T c.2023G>A - ABCA4_000760 - PubMed: Hu 2019 - - Unknown - - - - - DNA SEQ-NG - - retinal disease P52 PubMed: Hu 2019 - M ? China China - - - - 1 Stéphanie Cornelis
?/. 14 c.2023G>A r.(?) p.(Val675Ile) Unknown - VUS g.94526230C>T g.94060674C>T c.2023G>A p.(Val675Ile) - ABCA4_000760 - PubMed: Del Pozo-Valero 2020 - - Germline - - - - - DNA SEQ-NG - - retinal disease MD-0769 PubMed: Del Pozo-Valero 2020 - - ? Spain - - - - - 1 Stéphanie Cornelis
?/. 14 c.2023G>A r.(?) p.(Val675Ile) Unknown - VUS g.94526230C>T g.94060674C>T c.2023G>A p.(Val675Ile) - ABCA4_000760 - PubMed: Del Pozo-Valero 2020 - - Germline - - - - - DNA SEQ-NG - - retinal disease MD-0963 PubMed: Del Pozo-Valero 2020 - - ? Spain - - - - - 1 Stéphanie Cornelis
?/. 14 c.2023G>A r.(?) p.(Val675Ile) Parent #1 - VUS g.94526230C>T g.94060674C>T c.2023G>A p.(Val675Ile) - ABCA4_000760 - PubMed: Del Pozo-Valero 2020 - - Germline yes - - - - DNA SEQ-NG - - retinal disease MD-1146 PubMed: Del Pozo-Valero 2020 - - ? Spain - - - - - 1 Stéphanie Cornelis
?/. 14 c.2023G>A r.(?) p.(Val675Ile) Unknown - VUS g.94526230C>T g.94060674C>T c.2023G>A, p.Val675Ile Heterozygous - ABCA4_000760 - PubMed: Goetz 2020 - - Unknown - 6, 120152, 0, 0.00004994 - - - DNA SEQ-NG-I - solid state SBS retinal disease 3308-4053 PubMed: Goetz 2020 - - ? - - - - - - 1 Stéphanie Cornelis
?/. 14 c.2023G>A r.(?) p.(Val675Ile) Unknown - VUS g.94526230C>T g.94060674C>T c.2023G>A, p.Val675Ile Heterozygous - ABCA4_000760 - PubMed: Goetz 2020 - - Unknown - 6, 120152, 0, 0.00004994 - - - DNA SEQ - - retinal disease 3771-4596 PubMed: Goetz 2020 - - ? - - - - - - 1 Stéphanie Cornelis
?/. 14 c.2023G>A r.(?) p.(Val675Ile) Unknown - VUS g.94526230C>T g.94060674C>T c.2023G>A, p.Val675Ile Heterozygous - ABCA4_000760 - PubMed: Goetz 2020 - - Unknown - 6, 120152, 0, 0.00004994 - - - DNA SEQ-NG-I - solid state SBS retinal disease 4526-5493 PubMed: Goetz 2020 - - ? - - - - - - 1 Stéphanie Cornelis
?/. 14 c.2023G>A r.(?) p.(Val675Ile) Parent #2 - VUS g.94526230C>T g.94060674C>T c.2023G>A p.(Val675Ile) - ABCA4_000760 - PubMed: Nassisi 2018 - - Unknown yes - - - - DNA PE, SEQ - APEX retinal disease CIC08381 PubMed: Nassisi 2018 - - ? France - - - - - 1 Stéphanie Cornelis
?/. 14 c.2023G>A r.(?) p.(Val675Ile) Parent #2 - VUS g.94526230C>T g.94060674C>T c.2023G>A p.(Val675Ile) - ABCA4_000760 - PubMed: Nassisi 2018 - - Unknown yes - - - - DNA PE, SEQ - APEX retinal disease CIC08383 PubMed: Nassisi 2018 - - ? France - - - - - 1 Stéphanie Cornelis
?/. 14 c.2023G>A r.(?) p.(Val675Ile) Parent #1 - VUS g.94526230C>T g.94060674C>T c.514G > A (p.Gly172Ser); c.2023G > A (p.Val675Ile); c.6148G > C (p.Val2050Leu) - ABCA4_000760 - PubMed: Riera 2019 PubMed: Riera 2017 - - Unknown - - - - - DNA ? - - retinal disease STGD2_FiPS4F1.7 / Fi15/32 PubMed: Riera 2019 PubMed: Riera 2017 - M ? - white - - - - 1 Stéphanie Cornelis
?/. 14 c.2023G>A r.(?) p.(Val675Ile) Unknown - VUS g.94526230C>T g.94060674C>T c.2023G>A - ABCA4_000760 - PubMed: Hu 2019 - - Unknown - - - - - DNA SEQ-NG - - retinal disease P42 PubMed: Hu 2019 - M ? China China - - - - 1 Stéphanie Cornelis
?/. 14 c.2023G>A r.(?) p.(Val675Ile) Unknown - VUS g.94526230C>T g.94060674C>T c.2023G>A p.(Val675Ile) - ABCA4_000760 - PubMed: Del Pozo-Valero 2020 - - Germline - - - - - DNA SEQ-NG - - retinal disease MD-0394 PubMed: Del Pozo-Valero 2020 - - ? Spain - - - - - 1 Stéphanie Cornelis
?/. 14 c.2023G>A r.(?) p.(Val675Ile) Unknown - VUS g.94526230C>T g.94060674C>T ENST00000370225.3:c.2023G>A p.Val675Ile 0/1 - ABCA4_000760 - PubMed: Carss 2017 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease G009828 PubMed: Carss 2017 - F ? England white - - - - 1 Stéphanie Cornelis
+?/. - c.2023G>A r.(?) p.(Val675Ile) Unknown - likely pathogenic (recessive) g.94526230C>T g.94060674C>T - - ABCA4_000760 - PubMed: Xu 2014 - - Germline - 1/314 case chromosomes - - - DNA SEQ-NG-I, PCR, SEQ - - retinal disease - PubMed: Xu 2014 - F ? China Chinese - - - - 1 Frans Cremers
+?/. - c.2023G>A r.(?) p.(Val675Ile) Unknown - likely pathogenic g.94526230C>T g.94060674C>T ABCA4 c.2023G>A, p.Val675Ile - ABCA4_000760 heterozygous PubMed: Turro 2020 - - Germline/De novo (untested) ? - - - - DNA SEQ-NG-I blood whole genome sequencing retinal disease G009828 PubMed: Turro 2020 only individuals with mutations in retinal disease genes from this publication were inserted into LOVD ? - - - - - - - 1 LOVD
+/. - c.2023G>A r.(2023g>a) p.(Val675Ile) Maternal (confirmed) ACMG pathogenic (recessive) g.94526230C>T g.94060674C>T - - ABCA4_000760 - PubMed: Tian 2022, PubMed: Tian 2024 - - Germline ? - - - - DNA SEQ-NG-I - - STGD1 010228 PubMed: Tian 2022, PubMed: Tian 2024 - F - China - - - - - 1 Lu Tian
+/. 14 c.2023G>A r.(?) p.(Val675Ile) Parent #1 ACMG pathogenic (recessive) g.94526230C>T g.94060674C>T - - ABCA4_000760 - PubMed: Corradi 2023, Journal: Corradi 2023 - - Germline - - - - - DNA MIPsm, SEQ-NG - - retinal disease Pat93 PubMed: Corradi 2023, Journal: Corradi 2023 - F - - - - - - - 1 Zelia Corradi
+/. - c.2023G>A r.(?) p.(Val675Ile) Parent #1 - pathogenic (recessive) g.94526230C>T g.94060674C>T - - ABCA4_000760 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Germline yes - - - - DNA SEQ - - retinal disease L-0363 PubMed: Cornelis 2024, Journal: Cornelis 2024 - F - France - - - - - 1 Frans Cremers
+/. - c.2023G>A r.(?) p.(Val675Ile) Unknown - pathogenic (recessive) g.94526230C>T g.94060674C>T - - ABCA4_000760 - 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.2023G>A r.(?) p.(Val675Ile) Parent #1 - pathogenic (recessive) g.94526230C>T g.94060674C>T - - ABCA4_000760 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Germline yes - - - - DNA SEQ-NG - - retinal disease L-0640 PubMed: Cornelis 2024, Journal: Cornelis 2024 - F - France - - - - - 1 Frans Cremers
+/. - c.2023G>A r.(?) p.(Val675Ile) Parent #1 - pathogenic (recessive) g.94526230C>T g.94060674C>T - - ABCA4_000760 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Germline yes - - - - DNA MCA, SEQ - - retinal disease L-0934 PubMed: Cornelis 2024, Journal: Cornelis 2024 - F - France - - - - - 1 Frans Cremers
+/. - c.2023G>A r.(?) p.(Val675Ile) Unknown - pathogenic (recessive) g.94526230C>T g.94060674C>T - - ABCA4_000760 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Unknown - - - - - DNA SEQ - - retinal disease L-0949 PubMed: Cornelis 2024, Journal: Cornelis 2024 - M - France - - - - - 1 Frans Cremers
+/. - c.2023G>A r.(?) p.(Val675Ile) Unknown - pathogenic (recessive) g.94526230C>T g.94060674C>T - - ABCA4_000760 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Unknown - - - - - DNA SEQ-NG - - retinal disease L-0120 PubMed: Cornelis 2024, Journal: Cornelis 2024 - M - France - - - - - 1 Frans Cremers
+/. - c.2023G>A r.(?) p.(Val675Ile) Unknown - pathogenic (recessive) g.94526230C>T g.94060674C>T - - ABCA4_000760 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Germline/De novo (untested) - - - - - DNA SEQ - - retinal disease MEH-nonmild-112 PubMed: Cornelis 2024, Journal: Cornelis 2024 - F - United Kingdom (Great Britain) - - - - - 1 Stéphanie Cornelis
+/. - c.2023G>A r.(?) p.(Val675Ile) Unknown - pathogenic (recessive) g.94526230C>T g.94060674C>T - - ABCA4_000760 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Germline/De novo (untested) - - - - - DNA SEQ - - retinal disease MEH-mild-250 PubMed: Cornelis 2024, Journal: Cornelis 2024 - M - United Kingdom (Great Britain) - - - - - 1 Stéphanie Cornelis
+/. - c.2023G>A r.(?) p.(Val675Ile) Unknown - pathogenic (recessive) g.94526230C>T g.94060674C>T - - ABCA4_000760 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Germline/De novo (untested) - - - - - DNA SEQ - - retinal disease MEH-nonmild-413 PubMed: Cornelis 2024, Journal: Cornelis 2024 - F - United Kingdom (Great Britain) - - - - - 1 Stéphanie Cornelis
+/. - c.2023G>A r.(?) p.(Val675Ile) Unknown - pathogenic (recessive) g.94526230C>T g.94060674C>T - - ABCA4_000760 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Germline/De novo (untested) - - - - - DNA SEQ - - retinal disease MEH-nonmild-27 PubMed: Cornelis 2024, Journal: Cornelis 2024 - M - United Kingdom (Great Britain) - - - - - 1 Stéphanie Cornelis
+/. - c.2023G>A r.(?) p.(Val675Ile) Unknown - pathogenic (recessive) g.94526230C>T g.94060674C>T - - ABCA4_000760 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Germline/De novo (untested) - - - - - DNA SEQ - - retinal disease MEH-nonmild-443 PubMed: Cornelis 2024, Journal: Cornelis 2024 - M - United Kingdom (Great Britain) - - - - - 1 Stéphanie Cornelis
+?/. 14 c.2023G>A r.(2023g>a) p.(Val675Ile) Parent #1 ACMG likely pathogenic g.94526230C>T g.94060674C>T - - ABCA4_000760 combination of variants not reported - - - Germline - - - - - DNA SEQ-NG - - STGD1 - - - - - Mexico - - - - - 1 Oscar Francisco Chacón Camacho
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