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.

38 entries on 1 page. Showing entries 1 - 38.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

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Clinical classification     

DNA change (genomic) (hg19)     

DNA change (hg38)     

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ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

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Methylation     

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Technique     

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Remarks     

Disease     

ID_report     

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+/. 38 c.5380G>C r.(?) p.(Ala1794Pro) Both (homozygous) - pathogenic g.94480179C>G g.94014623C>G - - ABCA4_000991 - PubMed: Garces 2018, Journal: Garces 2018 - - Germline/De novo (untested) - - - - - DNA SEQ-NG Blood - STGD1 Patient 5 PubMed: Garces 2018, Journal: Garces 2018 - ? - Canada - >11y - - - 1 Fabian Garces
+/. 38 c.5380G>C r.(?) p.(Ala1794Pro) Both (homozygous) - pathogenic g.94480179C>G g.94014623C>G - - ABCA4_000991 - Sharon, submitted - - Germline - - - - - DNA SEQ - - STGD1 - Sharon, submitted - M no Israel Arab-Muslim - - - - 1 Dror Sharon
+/. 38 c.5380G>C r.(?) p.(Ala1794Pro) Paternal (confirmed) - pathogenic g.94480179C>G g.94014623C>G - - ABCA4_000991 - Sharon, submitted - - Germline - - - - - DNA SEQ - - maculopathy - Sharon, submitted - F no Israel Arab-Muslim - - - - 1 Dror Sharon
+/. 38 c.5380G>C r.(?) p.(Ala1794Pro) Maternal (confirmed) - pathogenic g.94480179C>G g.94014623C>G - - ABCA4_000991 - Sharon, submitted - - Germline - - - - - DNA SEQ - - STGD1 - Sharon, submitted - M no Israel Arab-Muslim - - - - 3 Dror Sharon
+/. - c.5380G>C r.(?) p.(Ala1794Pro) Unknown ACMG pathogenic g.94480179C>G - - - ABCA4_000991 - PubMed: Sharon 2019 - - Germline - 16/2420 IRD families - - - DNA SEQ - - retinal disease - PubMed: Sharon 2019 16 IRD families - - Israel - - - - - 16 Global Variome, with Curator vacancy
+?/. 38 c.5380G>C r.(?) p.(Ala1794Pro) Both (homozygous) - likely pathogenic (recessive) g.94480179C>G g.94014623C>G c.5380G>C (p.Ala1794Pro) - ABCA4_000991 no segregation analysis done PubMed: Zernant 2017 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease 3785 PubMed: Zernant 2017 - - ? United States - - - - - 1 Stéphanie Cornelis
+?/. 38 c.5380G>C r.(?) p.(Ala1794Pro) Both (homozygous) - likely pathogenic (recessive) g.94480179C>G g.94014623C>G c.5380G>C, p.(Ala1794Pro)‡ - ABCA4_000991 - PubMed: Garces 2018 - - Unknown - - - - - DNA SEQ-NG - - retinal disease 5 PubMed: Garces 2018 - - ? Canada - - - - - 1 Stéphanie Cornelis
+?/. 38 c.5380G>C r.(?) p.(Ala1794Pro) Unknown - likely pathogenic (recessive) g.94480179C>G g.94014623C>G c.5380G>C - ABCA4_000991 no variant 2nd chromosome PubMed: Sharon 2019 - - Unknown - - - - - DNA SEQ-NG - - retinal disease Unknown 906 PubMed: Sharon 2019 - - ? Israel - - - - - 1 Stéphanie Cornelis
+?/. 38 c.5380G>C r.(?) p.(Ala1794Pro) Unknown - likely pathogenic (recessive) g.94480179C>G g.94014623C>G c.5380G>C - ABCA4_000991 no variant 2nd chromosome PubMed: Sharon 2019 - - Unknown - - - - - DNA SEQ-NG - - retinal disease Unknown 907 PubMed: Sharon 2019 - - ? Israel - - - - - 1 Stéphanie Cornelis
+?/. 38 c.5380G>C r.(?) p.(Ala1794Pro) Unknown - likely pathogenic (recessive) g.94480179C>G g.94014623C>G c.5380G>C - ABCA4_000991 no variant 2nd chromosome PubMed: Sharon 2019 - - Unknown - - - - - DNA SEQ-NG - - retinal disease Unknown 908 PubMed: Sharon 2019 - - ? Israel - - - - - 1 Stéphanie Cornelis
+?/. 38 c.5380G>C r.(?) p.(Ala1794Pro) Unknown - likely pathogenic (recessive) g.94480179C>G g.94014623C>G c.5380G>C - ABCA4_000991 no variant 2nd chromosome PubMed: Sharon 2019 - - Unknown - - - - - DNA SEQ-NG - - retinal disease Unknown 909 PubMed: Sharon 2019 - - ? Israel - - - - - 1 Stéphanie Cornelis
+?/. 38 c.5380G>C r.(?) p.(Ala1794Pro) Unknown - likely pathogenic (recessive) g.94480179C>G g.94014623C>G c.5380G>C - ABCA4_000991 no variant 2nd chromosome PubMed: Sharon 2019 - - Unknown - - - - - DNA SEQ-NG - - retinal disease Unknown 910 PubMed: Sharon 2019 - - ? Israel - - - - - 1 Stéphanie Cornelis
+?/. 38 c.5380G>C r.(?) p.(Ala1794Pro) Unknown - likely pathogenic (recessive) g.94480179C>G g.94014623C>G c.5380G>C - ABCA4_000991 no variant 2nd chromosome PubMed: Sharon 2019 - - Unknown - - - - - DNA SEQ-NG - - retinal disease Unknown 911 PubMed: Sharon 2019 - - ? Israel - - - - - 1 Stéphanie Cornelis
+?/. 38 c.5380G>C r.(?) p.(Ala1794Pro) Unknown - likely pathogenic (recessive) g.94480179C>G g.94014623C>G c.5380G>C - ABCA4_000991 no variant 2nd chromosome PubMed: Sharon 2019 - - Unknown - - - - - DNA SEQ-NG - - retinal disease Unknown 912 PubMed: Sharon 2019 - - ? Israel - - - - - 1 Stéphanie Cornelis
+?/. 38 c.5380G>C r.(?) p.(Ala1794Pro) Unknown - likely pathogenic (recessive) g.94480179C>G g.94014623C>G c.5380G>C - ABCA4_000991 no variant 2nd chromosome PubMed: Sharon 2019 - - Unknown - - - - - DNA SEQ-NG - - retinal disease Unknown 913 PubMed: Sharon 2019 - - ? Israel - - - - - 1 Stéphanie Cornelis
+?/. 38 c.5380G>C r.(?) p.(Ala1794Pro) Unknown - likely pathogenic (recessive) g.94480179C>G g.94014623C>G c.5380G>C - ABCA4_000991 no variant 2nd chromosome PubMed: Sharon 2019 - - Unknown - - - - - DNA SEQ-NG - - retinal disease Unknown 914 PubMed: Sharon 2019 - - ? Israel - - - - - 1 Stéphanie Cornelis
+?/. 38 c.5380G>C r.(?) p.(Ala1794Pro) Unknown - likely pathogenic (recessive) g.94480179C>G g.94014623C>G c.5380G>C - ABCA4_000991 no variant 2nd chromosome PubMed: Sharon 2019 - - Unknown - - - - - DNA SEQ-NG - - retinal disease Unknown 915 PubMed: Sharon 2019 - - ? Israel - - - - - 1 Stéphanie Cornelis
+?/. 38 c.5380G>C r.(?) p.(Ala1794Pro) Unknown - likely pathogenic (recessive) g.94480179C>G g.94014623C>G c.5380G>C - ABCA4_000991 no variant 2nd chromosome PubMed: Sharon 2019 - - Unknown - - - - - DNA SEQ-NG - - retinal disease Unknown 916 PubMed: Sharon 2019 - - ? Israel - - - - - 1 Stéphanie Cornelis
+?/. 38 c.5380G>C r.(?) p.(Ala1794Pro) Unknown - likely pathogenic (recessive) g.94480179C>G g.94014623C>G c.5380G>C - ABCA4_000991 no variant 2nd chromosome PubMed: Sharon 2019 - - Unknown - - - - - DNA SEQ-NG - - retinal disease Unknown 917 PubMed: Sharon 2019 - - ? Israel - - - - - 1 Stéphanie Cornelis
+?/. 38 c.5380G>C r.(?) p.(Ala1794Pro) Unknown - likely pathogenic (recessive) g.94480179C>G g.94014623C>G c.5380G>C - ABCA4_000991 no variant 2nd chromosome PubMed: Sharon 2019 - - Unknown - - - - - DNA SEQ-NG - - retinal disease Unknown 918 PubMed: Sharon 2019 - - ? Israel - - - - - 1 Stéphanie Cornelis
+?/. 38 c.5380G>C r.(?) p.(Ala1794Pro) Unknown - likely pathogenic (recessive) g.94480179C>G g.94014623C>G c.5380G>C - ABCA4_000991 no variant 2nd chromosome PubMed: Sharon 2019 - - Unknown - - - - - DNA SEQ-NG - - retinal disease Unknown 919 PubMed: Sharon 2019 - - ? Israel - - - - - 1 Stéphanie Cornelis
+?/. 38 c.5380G>C r.(?) p.(Ala1794Pro) Unknown - likely pathogenic (recessive) g.94480179C>G g.94014623C>G c.5380G>C - ABCA4_000991 no variant 2nd chromosome PubMed: Sharon 2019 - - Unknown - - - - - DNA SEQ-NG - - retinal disease Unknown 920 PubMed: Sharon 2019 - - ? Israel - - - - - 1 Stéphanie Cornelis
+?/. 38 c.5380G>C r.(?) p.(Ala1794Pro) Unknown - likely pathogenic (recessive) g.94480179C>G g.94014623C>G c.5380G>C p.(Ala1794Pro) - ABCA4_000991 no variant 2nd chromosome PubMed: Hanany 2018 - - Unknown - - - - - DNA SEQ-NG - - retinal disease Unknown 1177 PubMed: Hanany 2018 mutations were not reported per patient, so a second mutation might be present - ? Israel - - - - - 1 Stéphanie Cornelis
+?/. 38 c.5380G>C r.(?) p.(Ala1794Pro) Unknown - likely pathogenic (recessive) g.94480179C>G - c.5380G>C - ABCA4_000991 - PubMed: Khan 2020 - - Unknown - - - - - DNA MIPsm - smMIPs-based complete ABCA4 gene retinal disease 70886 PubMed: Khan 2020 - M - Israel - - - - - 1 LOVD
+?/. 38 c.5380G>C r.(?) p.(Ala1794Pro) Both (homozygous) - likely pathogenic (recessive) g.94480179C>G - c.5380G>C - ABCA4_000991 - PubMed: Khan 2020 - - Unknown - - - - - DNA MIPsm - smMIPs-based complete ABCA4 gene retinal disease 70903 PubMed: Khan 2020 - M - Israel - - - - - 1 LOVD
+?/. 38 c.5380G>C r.(?) p.(Ala1794Pro) Both (homozygous) - likely pathogenic (recessive) g.94480179C>G - c.5380G>C - ABCA4_000991 - PubMed: Khan 2020 - - Unknown - - - - - DNA MIPsm - smMIPs-based complete ABCA4 gene retinal disease 70903 PubMed: Khan 2020 - M - Israel - - - - - 1 LOVD
+?/. 38 c.5380G>C r.(?) p.(Ala1794Pro) Both (homozygous) - likely pathogenic (recessive) g.94480179C>G - c.5380G>C - ABCA4_000991 - PubMed: Khan 2020 - - Unknown - - - - - DNA MIPsm - smMIPs-based complete ABCA4 gene retinal disease 70905 PubMed: Khan 2020 - F - Israel - - - - - 1 LOVD
+?/. 38 c.5380G>C r.(?) p.(Ala1794Pro) Both (homozygous) - likely pathogenic (recessive) g.94480179C>G - c.5380G>C - ABCA4_000991 - PubMed: Khan 2020 - - Unknown - - - - - DNA MIPsm - smMIPs-based complete ABCA4 gene retinal disease 70905 PubMed: Khan 2020 - F - Israel - - - - - 1 LOVD
+?/. 38 c.5380G>C r.(?) p.(Ala1794Pro) Unknown - likely pathogenic (recessive) g.94480179C>G - c.5380G>C - ABCA4_000991 - PubMed: Khan 2020 - - Unknown - - - - - DNA MIPsm - smMIPs-based complete ABCA4 gene retinal disease 70907 PubMed: Khan 2020 - M - Israel - - - - - 1 LOVD
+?/. 38 c.5380G>C r.(?) p.(Ala1794Pro) Parent #1 ACMG likely pathogenic (recessive) g.94480179C>G g.94014623C>G - - ABCA4_000991 - PubMed: Corradi 2023, Journal: Corradi 2023 - - Germline - - - - - DNA MIPsm, SEQ-NG - - retinal disease Pat150 PubMed: Corradi 2023, Journal: Corradi 2023 - F - - - - - - - 1 Zelia Corradi
+?/. 38 c.5380G>C r.(?) p.(Ala1794Pro) Both (homozygous) ACMG likely pathogenic (recessive) g.94480179C>G g.94014623C>G - - ABCA4_000991 - PubMed: Corradi 2023, Journal: Corradi 2023 - - Germline - - - - - DNA MIPsm, SEQ-NG - - retinal disease Pat289 PubMed: Corradi 2023, Journal: Corradi 2023 - M - - - - - - - 1 Zelia Corradi
+?/. 38 c.5380G>C r.(?) p.(Ala1794Pro) Parent #2 ACMG likely pathogenic (recessive) g.94480179C>G g.94014623C>G - - ABCA4_000991 - PubMed: Corradi 2023, Journal: Corradi 2023 - - Germline - - - - - DNA MIPsm, SEQ-NG - - retinal disease Pat147 PubMed: Corradi 2023, Journal: Corradi 2023 - M - - - - - - - 1 Zelia Corradi
+?/. 38 c.5380G>C r.(?) p.(Ala1794Pro) Parent #2 ACMG likely pathogenic (recessive) g.94480179C>G g.94014623C>G - - ABCA4_000991 - PubMed: Corradi 2023, Journal: Corradi 2023 - - Germline - - - - - DNA MIPsm, SEQ-NG - - retinal disease Pat300 PubMed: Corradi 2023, Journal: Corradi 2023 - M - - - - - - - 1 Zelia Corradi
+?/. 38 c.5380G>C r.(?) p.(Ala1794Pro) Parent #2 ACMG likely pathogenic (recessive) g.94480179C>G g.94014623C>G - - ABCA4_000991 - PubMed: Corradi 2023, Journal: Corradi 2023 - - Germline - - - - - DNA MIPsm, SEQ-NG - - retinal disease Pat301 PubMed: Corradi 2023, Journal: Corradi 2023 - F - - - - - - - 1 Zelia Corradi
+/. 38 c.5380G>C r.(?) p.(Ala1794Pro) Both (homozygous) ACMG pathogenic g.94480179C>G g.94014623C>G - - ABCA4_000991 - PubMed: Hitti-Malin 2024, Journal: Hitti-Malin 2024 - - Germline - - - - - DNA SEQ, SEQ-NG - smMIP-based 105 iMD/AMD genes macular dystrophy 070882 PubMed: Hitti-Malin 2024, Journal: Hitti-Malin 2024 - F - - - - - - - 1 Rebekkah Hitti-Malin
+/. 38 c.5380G>C r.(?) p.(Ala1794Pro) Parent #1 ACMG pathogenic g.94480179C>G g.94014623C>G - - ABCA4_000991 - PubMed: Hitti-Malin 2024, Journal: Hitti-Malin 2024 - - Germline - - - - - DNA SEQ, SEQ-NG - smMIP-based 105 iMD/AMD genes macular dystrophy 074626 PubMed: Hitti-Malin 2024, Journal: Hitti-Malin 2024 - M - - - - - - - 1 Rebekkah Hitti-Malin
+/. 38 c.5380G>C r.(?) p.(Ala1794Pro) Parent #1 ACMG pathogenic g.94480179C>G g.94014623C>G - - ABCA4_000991 - PubMed: Hitti-Malin 2024, Journal: Hitti-Malin 2024 - - Germline - - - - - DNA SEQ, SEQ-NG - smMIP-based 105 iMD/AMD genes macular dystrophy 074637 PubMed: Hitti-Malin 2024, Journal: Hitti-Malin 2024 - F - - - - - - - 1 Rebekkah Hitti-Malin
+?/. 38 c.5380G>C r.(?) p.(Ala1794Pro) Unknown ACMG likely pathogenic g.94480179C>G g.94014623C>G - - ABCA4_000991 ACMG PS3_sup, PS4, PM3_sup, PM5, PP3; severity category moderate Journal: Cornelis 2023 - - SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
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