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.

47 entries on 1 page. Showing entries 1 - 47.
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AscendingDNA change (cDNA)     

RNA change     

Protein     

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Clinical classification     

DNA change (genomic) (hg19)     

DNA change (hg38)     

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Variant remarks     

Reference     

ClinVar ID     

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Methylation     

Template     

Technique     

Tissue     

Remarks     

Disease     

ID_report     

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?/. 44 c.6112C>T r.(?) p.(Arg2038Trp) Unknown - VUS g.94471032G>A g.94005476G>A Arg2038Trp - ABCA4_000792 - PubMed: Fishman 1999 - - Germline - ExAC 3, 121400, 0, 0.00002471 - - - DNA SSCA, PCR, SEQ - - ? - PubMed: Fishman 1999 - F ? - ? - - - - 1 Stéphanie Cornelis
?/. 44 c.6112C>T r.(?) p.(Arg2038Trp) Unknown - VUS g.94471032G>A g.94005476G>A 6112A>T - ABCA4_000792 - PubMed: Webster 2001 - - Germline - ExAC 3, 121400, 0, 0.00002471 - - - DNA SSCA, SEQ - - STGD1 - PubMed: Webster 2001 Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome. ? ? United States - - - - - 1 Stéphanie Cornelis
+?/. 44 c.6112C>T r.(?) p.(Arg2038Trp) Unknown - likely pathogenic g.94471032G>A g.94005476G>A R2038W - ABCA4_000792 - PubMed: September 2004, PubMed: Roberts 2012 - - Germline - ExAC 3, 121400, 0, 0.00002471 - - - DNA PCR, SSCA, HD, PCRdig, SEQ - - STGD1 - PubMed: September 2004, PubMed: Roberts 2012 - ? ? South Africa ? - - - - 1 Stéphanie Cornelis
+?/. 44 c.6112C>T r.(?) p.(Arg2038Trp) Unknown - likely pathogenic g.94471032G>A g.94005476G>A R2038W - ABCA4_000792 - PubMed: September 2004, PubMed: Roberts 2012 - - Germline - ExAC 3, 121400, 0, 0.00002471 - - - DNA PCR, SSCA, HD, PCRdig, SEQ - - STGD1 - PubMed: September 2004 - ? ? South Africa ? - - - - 1 Stéphanie Cornelis
+?/. 44 c.6112C>T r.(?) p.(Arg2038Trp) Unknown - likely pathogenic g.94471032G>A g.94005476G>A p.R2038W - ABCA4_000792 - PubMed: Strom 2012 - - Germline ? 3, 121400, 0, 0.00002471 - - - DNA SEQ-NG-I, SEQ - - STGD1 - PubMed: Strom 2012 - M ? - ? - - - - 1 Stéphanie Cornelis
+/. 44 c.6112C>T r.(6112c>u) p.(Arg2038Trp) Parent #1 ACMG pathogenic (recessive) g.94471032G>A g.94005476G>A - - ABCA4_000792 - PubMed: Cornelis 2017, Journal: Cornelis 2017, Journal: Cornelis 2023 - - SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 44 c.6112C>T r.(?) p.(Arg2038Trp) Parent #1 - likely pathogenic g.94471032G>A g.94005476G>A - - ABCA4_000792 - PubMed: Khan 2019 - - Unknown no - - - - DNA SEQ, MIPsm - - STGD1 ? PubMed: Khan 2019 - - - Germany - - - - - 1 Stéphanie Cornelis
?/. 44 c.6112C>T r.(?) p.(Arg2038Trp) Parent #1 - VUS g.94471032G>A g.94005476G>A - - ABCA4_000792 - PubMed: Hu 2019 - - Germline - - - - - DNA SEQ-NG peripheral blood gene panel STGD1 P74 PubMed: Hu 2019 - F no China Asian - - no none 1 Fangyuan Hu
?/. - c.6112C>T r.(?) p.(Arg2038Trp) Unknown - VUS g.94471032G>A g.94005476G>A - - ABCA4_000792 - - - - Germline - - - - - DNA SEQ-NG peripheral blood gene panel STGD1 - - - F no China Asian - - no none 1 Fangyuan Hu
?/. 44 c.6112C>T r.(?) p.(Arg2038Trp) Parent #1 - VUS g.94471032G>A g.94005476G>A - - ABCA4_000792 - PubMed: Hu 2019 - - Germline - - - - - DNA SEQ-NG - gene panel STGD1 P80 PubMed: Hu 2019 - F ? China Asian - - - none 1 Fangyuan Hu
+?/. - c.6112C>T r.(?) p.(Arg2038Trp) Unknown - likely pathogenic g.94471032G>A g.94005476G>A - - ABCA4_000792 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 44 c.6112C>T r.(?) p.(Arg2038Trp) Parent #1 - pathogenic (recessive) g.94471032G>A g.94005476G>A - - ABCA4_000792 - PubMed: Birtel 2018 - - Germline - - - - - DNA SEQ - - retinal disease Pat62 PubMed: Birtel 2018 patient F - Germany - - - - - 1 LOVD
+?/. 44 c.6112C>T r.(?) p.(Arg2038Trp) Unknown - likely pathogenic (recessive) g.94471032G>A g.94005476G>A p.Arg2038Trp - ABCA4_000792 - PubMed: Birtel 2018 - - Unknown - - - - - DNA SEQ - - retinal disease 62 PubMed: Birtel 2018 - F no Germany - - - - - 1 Stéphanie Cornelis
+?/. 44 c.6112C>T r.(?) p.(Arg2038Trp) Paternal (confirmed) - likely pathogenic (recessive) g.94471032G>A g.94005476G>A c.6112C>T - ABCA4_000792 - PubMed: Zhang 2014 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease BII:1 PubMed: Zhang 2014 Sibling of BIII:2 M ? China adopted - - - - 1 Stéphanie Cornelis
+?/. 44 c.6112C>T r.(?) p.(Arg2038Trp) Paternal (confirmed) - likely pathogenic (recessive) g.94471032G>A g.94005476G>A c.6112C>T - ABCA4_000792 - PubMed: Zhang 2014 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease BII:2 PubMed: Zhang 2014 Sibling of BIII:1 F ? China adopted - - - - 1 Stéphanie Cornelis
+?/. 44 c.6112C>T r.(?) p.(Arg2038Trp) Unknown - likely pathogenic (recessive) g.94471032G>A g.94005476G>A c.6112C>T p.(R2038W) - ABCA4_000792 no variant 2nd chromosome PubMed: Schulz 2017 - - Unknown - - - - - DNA arraySEQ, SEQ-NG - RetChip retinal disease Unknown 548 PubMed: Schulz 2017 191 F, 144 M in this study - ? Germany - - - - - 1 Stéphanie Cornelis
+?/. 44 c.6112C>T r.(?) p.(Arg2038Trp) Both (homozygous) - likely pathogenic (recessive) g.94471032G>A g.94005476G>A c.6112C>T,p.Arg2038Trp - ABCA4_000792 - PubMed: Fujinami 2019 - - Unknown - - - - - DNA SEQ-NG - SEQ-NG (143 cases), APEX (44 cases), SSCP (24 cases), SEQ (134) retinal disease 15078 PubMed: Fujinami 2019 191 F, 154 M in this study - ? Germany - - - - - 1 Stéphanie Cornelis
+?/. 44 c.6112C>T r.(?) p.(Arg2038Trp) Unknown - likely pathogenic (recessive) g.94471032G>A g.94005476G>A c.6112C>T p.Arg2038Trp - ABCA4_000792 no segregation analysis done PubMed: Salles 2018 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease 9 PubMed: Salles 2018 - M ? Brazil - - - - - 1 Stéphanie Cornelis
+?/. 44 c.6112C>T r.(?) p.(Arg2038Trp) Unknown - likely pathogenic (recessive) g.94471032G>A g.94005476G>A c.6112C>T p.(Arg2038Trp) - ABCA4_000792 no segregation analysis done PubMed: Khan 2019 - - Unknown - - - - - DNA SEQ-NG, MIPsm - smMIPs of exons and few intronic regions retinal disease 66710 PubMed: Khan 2019 - - ? Germany - - - - - 1 Stéphanie Cornelis
+?/. 44 c.6112C>T r.(?) p.(Arg2038Trp) Unknown - likely pathogenic (recessive) g.94471032G>A g.94005476G>A c.6112C>T - ABCA4_000792 - PubMed: Hu 2019 - - Unknown - - - - - DNA SEQ-NG - - retinal disease P74 PubMed: Hu 2019 - F ? China China - - - - 1 Stéphanie Cornelis
+?/. 44 c.6112C>T r.(?) p.(Arg2038Trp) Unknown - likely pathogenic (recessive) g.94471032G>A g.94005476G>A c.6112C>T - ABCA4_000792 - PubMed: Hu 2019 - - Unknown - - - - - DNA SEQ-NG - - retinal disease P80 PubMed: Hu 2019 - F ? China China - - - - 1 Stéphanie Cornelis
+?/. 44 c.6112C>T r.(?) p.(Arg2038Trp) Unknown - likely pathogenic (recessive) g.94471032G>A g.94005476G>A het c.6112C>T p.Arg2038Trp - ABCA4_000792 - PubMed: Gliem 2020 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease 35 PubMed: Gliem 2020 - M ? Germany - - - - - 1 Stéphanie Cornelis
+?/. 44 c.6112C>T r.(?) p.(Arg2038Trp) Both (homozygous) - likely pathogenic (recessive) g.94471032G>A g.94005476G>A c.6112C>T/p.R2038W - ABCA4_000792 no segregation analysis done PubMed: Weisschuh 2020 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease 287 PubMed: Weisschuh 2020 - M ? Germany - - - - - 1 Stéphanie Cornelis
+?/. 44 c.6112C>T r.(?) p.(Arg2038Trp) Unknown - likely pathogenic (recessive) g.94471032G>A g.94005476G>A c.6112C>T p.Arg2038Trp - ABCA4_000792 no variant 2nd chromosome PubMed: Gao 2019 - - Unknown - - - - - DNA SEQ-NG - - retinal disease Unknown 1224 PubMed: Gao 2019 variant reported in the supplemental data. It is unclear in what kind of patient this variant was found and if a second variant was identied as well. - ? - - - - - - 1 Stéphanie Cornelis
+?/. 44 c.6112C>T r.(?) p.(Arg2038Trp) Unknown - likely pathogenic (recessive) g.94471032G>A g.94005476G>A c.6112C>T, p.p.Arg2038Trp Heterozygous - ABCA4_000792 - PubMed: Goetz 2020 - - Unknown - 3, 121400, 0, 0.00002471 - - - DNA SEQ-NG-I - solid state SBS retinal disease 1047-2480 PubMed: Goetz 2020 - - ? - - - - - - 1 Stéphanie Cornelis
+?/. 44 c.6112C>T r.(?) p.(Arg2038Trp) Unknown - likely pathogenic (recessive) g.94471032G>A g.94005476G>A c.6112C>T, p.p.Arg2038Trp Heterozygous - ABCA4_000792 - PubMed: Goetz 2020 - - Unknown - 3, 121400, 0, 0.00002471 - - - DNA SEQ-NG-I - solid state SBS retinal disease 2594-3248 PubMed: Goetz 2020 - - ? - - - - - - 1 Stéphanie Cornelis
+?/. 44 c.6112C>T r.(?) p.(Arg2038Trp) Unknown - likely pathogenic (recessive) g.94471032G>A g.94005476G>A c.6112C>T, p.p.Arg2038Trp Heterozygous - ABCA4_000792 no variant 2nd chromosome PubMed: Goetz 2020 - - Unknown - 3, 121400, 0, 0.00002471 - - - DNA SEQ - - retinal disease 2712-4315 PubMed: Goetz 2020 - - ? - - - - - - 1 Stéphanie Cornelis
+?/. 44 c.6112C>T r.(?) p.(Arg2038Trp) Unknown - likely pathogenic (recessive) g.94471032G>A g.94005476G>A c.6112C>T, p.p.Arg2038Trp Heterozygous - ABCA4_000792 - PubMed: Goetz 2020 - - Unknown - 3, 121400, 0, 0.00002471 - - - DNA SEQ-NG-I - solid state SBS retinal disease 4540-5548 PubMed: Goetz 2020 - - ? - - - - - - 1 Stéphanie Cornelis
+?/. 44 c.6112C>T r.(?) p.(Arg2038Trp) Unknown - likely pathogenic (recessive) g.94471032G>A g.94005476G>A c.6112C>T, p.p.Arg2038Trp Heterozygous - ABCA4_000792 no variant 2nd chromosome PubMed: Goetz 2020 - - Unknown - 3, 121400, 0, 0.00002471 - - - DNA SEQ - - retinal disease 4541-5548 PubMed: Goetz 2020 4541 is a family member of 4540 - ? - - - - - - 1 Stéphanie Cornelis
+?/. 44 c.6112C>T r.(?) p.(Arg2038Trp) Parent #1 - likely pathogenic (recessive) g.94471032G>A g.94005476G>A p.Y603;Cp.R2038W - ABCA4_000792 no variant 2nd chromosome PubMed: Jiang 2016 - - Unknown yes - - - - DNA PCR, SEQ - - retinal disease 10066 PubMed: Jiang 2016 - - ? China - - - - - 1 Stéphanie Cornelis
+?/. 44 c.6112C>T r.(?) p.(Arg2038Trp) Unknown - likely pathogenic (recessive) g.94471032G>A g.94005476G>A c.768 G>Tc.6112 C>T - ABCA4_000792 - PubMed: Schroeder 2018 - - Unknown - - - - - DNA PE - APEX retinal disease 17 PubMed: Schroeder 2018 - M ? Sweden - - - - - 1 Stéphanie Cornelis
+?/. 44 c.6112C>T r.(?) p.(Arg2038Trp) Unknown - likely pathogenic (recessive) g.94471032G>A g.94005476G>A c.6112C>T p.Arg2038Trp - ABCA4_000792 - PubMed: Smaragda 2018 - - Unknown - - - - - DNA MLPA, PE, SEQ - APEX retinal disease ABCA4-1A PubMed: Smaragda 2018 - M ? Greece - - - - - 1 Stéphanie Cornelis
+?/. 44 c.6112C>T r.(?) p.(Arg2038Trp) Unknown - likely pathogenic (recessive) g.94471032G>A g.94005476G>A c.6112C>T - ABCA4_000792 no segregation analysis done PubMed: Sung 2020 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease F11 P12 PubMed: Sung 2020 - - ? - Han - - - - 1 Stéphanie Cornelis
+/. - c.6112C>T r.(6112c>u) p.(Arg2038Trp) Paternal (confirmed) ACMG pathogenic (recessive) g.94471032G>A g.94005476G>A - - ABCA4_000792 no variant 2nd chromosome PubMed: Tian 2022, PubMed: Tian 2024 - - Germline yes - - - - DNA SEQ-NG-I - - STGD1 010066 PubMed: Tian 2022, PubMed: Tian 2024 - M no China - - - - - 1 Lu Tian
+?/. 44 c.6112C>T r.(?) p.(Arg2038Trp) Unknown - likely pathogenic (recessive) g.94471032G>A - c.6112C>T - ABCA4_000792 - PubMed: Liu-2020 - - Germline - - - - - DNA SEQ-NG - hereditary eye disease enrichment panel (HEDEP) retinal disease - PubMed: Liu-2020 - F - - - - - - - 1 LOVD
+?/. 44 c.6112C>T r.(?) p.(Arg2038Trp) Unknown - likely pathogenic (recessive) g.94471032G>A - c.6112C>T - ABCA4_000792 - PubMed: Liu-2020 - - Germline - - - - - DNA SEQ-NG - hereditary eye disease enrichment panel (HEDEP) retinal disease - PubMed: Liu-2020 - F - - - - - - - 1 LOVD
+?/. - c.6112C>T r.(?) p.(Arg2038Trp) Unknown ACMG likely pathogenic g.94471032G>A g.94005476G>A ABCA4 c.4505G>A(;)6112C>T, V1: c.6112C>T, (p.Arg2038Trp) - ABCA4_000792 alleles in cis or trans; heterozygous PubMed: Chen 2021 - - Unknown ? - - - - DNA SEQ-NG blood 212 inherited retinal disease-related genes retinal disease F115 PubMed: Chen 2021 - ? - Taiwan - - - - - 1 LOVD
+?/. - c.6112C>T r.(?) p.(Arg2038Trp) Unknown - likely pathogenic g.94471032G>A g.94005476G>A ABCA4 c.4505G>A(;)6112C>T; p.(Arg2038Trp) - ABCA4_000792 heterozygous PubMed: Chen 2021 - - Germline/De novo (untested) ? Taiwan Biobank: 0; GnomAD_exome_East: 0; GnomAD_All: 0.0000159 - - - DNA SEQ-NG - targeted 212 IRD-related genes retinal disease F115 PubMed: Chen 2021 - - - Taiwan - - - - - 1 LOVD
+/. - c.6112C>T r.(?) p.(Arg2038Trp) Both (homozygous) - pathogenic (recessive) g.94471032G>A g.94005476G>A - - ABCA4_000792 - PubMed: Tian 2024 - - Germline yes - - - - DNA SEQ - - retinal disease - PubMed: Tian 2024 - F - China - - - - - 1 Lu Tian
+?/. 44 c.6112C>T r.(?) p.(Arg2038Trp) Unknown - likely pathogenic (recessive) g.94471032G>A - c.6112C>T - ABCA4_000792 - PubMed: Khan 2020 - - Unknown - - - - - DNA MIPsm - smMIPs-based complete ABCA4 gene retinal disease 70655 PubMed: Khan 2020 - M - South Africa - - - - - 1 LOVD
+/. 44 c.6112C>T r.(?) p.(Arg2038Trp) Both (homozygous) ACMG pathogenic (recessive) g.94471032G>A g.94005476G>A - - ABCA4_000792 - PubMed: Corradi 2023, Journal: Corradi 2023 - - Germline - - - - - DNA MIPsm, SEQ-NG - - retinal disease Pat40 PubMed: Corradi 2023, Journal: Corradi 2023 - M - - - - - - - 1 Zelia Corradi
+/. 44 c.6112C>T r.(?) p.(Arg2038Trp) Unknown ACMG pathogenic (recessive) g.94471032G>A g.94005476G>A - - ABCA4_000792 - PubMed: Corradi 2023, Journal: Corradi 2023 - - Germline - - - - - DNA MIPsm, SEQ-NG - - retinal disease Pat219 PubMed: Corradi 2023, Journal: Corradi 2023 - M - - - - - - - 1 Zelia Corradi
+/. - c.6112C>T r.(?) p.(Arg2038Trp) Unknown - pathogenic (recessive) g.94471032G>A g.94005476G>A - - ABCA4_000792 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Unknown - - - - - DNA SEQ-NG - - retinal disease L-0288 PubMed: Cornelis 2024, Journal: Cornelis 2024 - M - France - - - - - 1 Frans Cremers
+/. - c.6112C>T r.(?) p.(Arg2038Trp) Unknown - pathogenic (recessive) g.94471032G>A g.94005476G>A - - ABCA4_000792 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Unknown - - - - - DNA DHPLC, SEQ - - retinal disease L-0702 PubMed: Cornelis 2024, Journal: Cornelis 2024 - F - France - - - - - 1 Frans Cremers
+/. - c.6112C>T r.(?) p.(Arg2038Trp) Unknown - pathogenic (recessive) g.94471032G>A g.94005476G>A - - ABCA4_000792 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Germline/De novo (untested) - - - - - DNA SEQ - - retinal disease MEH-nonmild-362 PubMed: Cornelis 2024, Journal: Cornelis 2024 - F - United Kingdom (Great Britain) - - - - - 1 Stéphanie Cornelis
+/. - c.6112C>T r.(?) p.(Arg2038Trp) Unknown - pathogenic (recessive) g.94471032G>A g.94005476G>A - - ABCA4_000792 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Germline/De novo (untested) - - - - - DNA SEQ - - retinal disease MEH-nonmild-370 PubMed: Cornelis 2024, Journal: Cornelis 2024 - M - United Kingdom (Great Britain) - - - - - 1 Stéphanie Cornelis
+/. - c.6112C>T r.(?) p.(Arg2038Trp) Unknown ACMG pathogenic (recessive) g.94471032G>A g.94005476G>A - - ABCA4_000792 ACMG PP3, PM2, PM5, PM1, PP2, PP5_STRONG PubMed: Weisschuh 2024 - - Germline - - - - - DNA SEQ-NG - WGS ? STGD-375 PubMed: Weisschuh 2024 patient, no family history F - Germany - - - - - 1 Johan den Dunnen
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