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.

23 entries on 1 page. Showing entries 1 - 23.
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Effect     

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AscendingDNA change (cDNA)     

RNA change     

Protein     

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DNA change (genomic) (hg19)     

DNA change (hg38)     

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Variant remarks     

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ClinVar ID     

dbSNP ID     

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Disease     

ID_report     

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+/. 7 c.834del r.(?) p.(Asp279Ilefs*21) Both (homozygous) - pathogenic g.94548931del - - - ABCA4_001022 Variant Error [EMISMATCH]: This variant seems to mismatch; the genomic and the transcript variant seems to not belong together. Please fix this entry and then remove this message. Sharon, submitted - - Germline - - - - - DNA SEQ - - LCA - Sharon, submitted - M yes Israel Arab-Muslim - - - - 1 Dror Sharon
+/. - c.834del r.(?) p.(Asp279IlefsTer21) Unknown - pathogenic g.94548932del g.94083376del - - ABCA4_001022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.834del r.(?) p.(Asp279Ilefs*21) Unknown ACMG pathogenic g.94548932del - - - ABCA4_001022 - PubMed: Sharon 2019 - - Germline - 2/2420 IRD families - - - DNA SEQ - - retinal disease - PubMed: Sharon 2019 2 IRD families - - Israel - - - - - 2 Global Variome, with Curator vacancy
+/. - c.834del r.(?) p.(Asp279Ilefs*21) Unknown ACMG pathogenic g.94548932del - - - ABCA4_001022 - PubMed: Sharon 2019 - - Germline - 3/2420 IRD families - - - DNA SEQ - - retinal disease - PubMed: Sharon 2019 3 IRD families - - Israel - - - - - 3 Global Variome, with Curator vacancy
+/. 7 c.834del r.(?) p.(Asp279Ilefs*21) Both (homozygous) - pathogenic (recessive) g.94548932del g.94083376del c.834del (p.Asp279fs) - ABCA4_001022 - PubMed: Zernant 2017 - - Unknown yes - - - - DNA SEQ-NG-I - - retinal disease 3748 PubMed: Zernant 2017 - - ? United States - - - - - 1 Stéphanie Cornelis
+/. 7 c.834del r.(?) p.(Asp279Ilefs*21) Unknown - pathogenic (recessive) g.94548932del g.94083376del c.834delT,p.Ser278SerfsTer22 - ABCA4_001022 - PubMed: Fujinami 2019 - - Unknown - - - - - DNA SEQ-NG - SEQ-NG (143 cases), APEX (44 cases), SSCP (24 cases), SEQ (134) retinal disease 14098 PubMed: Fujinami 2019 191 F, 154 M in this study - ? United Kingdom (Great Britain) - - - - - 1 Stéphanie Cornelis
+/. 7 c.834del r.(?) p.(Asp279Ilefs*21) Unknown - pathogenic (recessive) g.94548932del g.94083376del c.834del - ABCA4_001022 no variant 2nd chromosome PubMed: Sharon 2019 - - Unknown - - - - - DNA SEQ-NG - - retinal disease Unknown 1042 PubMed: Sharon 2019 - - ? Israel - - - - - 1 Stéphanie Cornelis
+/. 7 c.834del r.(?) p.(Asp279Ilefs*21) Unknown - pathogenic (recessive) g.94548932del g.94083376del c.834del - ABCA4_001022 no variant 2nd chromosome PubMed: Sharon 2019 - - Unknown - - - - - DNA SEQ-NG - - retinal disease Unknown 1043 PubMed: Sharon 2019 - - ? Israel - - - - - 1 Stéphanie Cornelis
+/. 7 c.834del r.(?) p.(Asp279Ilefs*21) Unknown - pathogenic (recessive) g.94548932del g.94083376del c.834del - ABCA4_001022 no variant 2nd chromosome PubMed: Sharon 2019 - - Unknown - - - - - DNA SEQ-NG - - retinal disease Unknown 1044 PubMed: Sharon 2019 - - ? Israel - - - - - 1 Stéphanie Cornelis
+/. 7 c.834del r.(?) p.(Asp279Ilefs*21) Unknown - pathogenic (recessive) g.94548932del g.94083376del c.834del - ABCA4_001022 no variant 2nd chromosome PubMed: Sharon 2019 - - Unknown - - - - - DNA SEQ-NG - - retinal disease Unknown 1045 PubMed: Sharon 2019 - - ? Israel - - - - - 1 Stéphanie Cornelis
+/. 7 c.834del r.(?) p.(Asp279Ilefs*21) Unknown - pathogenic (recessive) g.94548932del g.94083376del c.834del - ABCA4_001022 no variant 2nd chromosome PubMed: Sharon 2019 - - Unknown - - - - - DNA SEQ-NG - - retinal disease Unknown 1046 PubMed: Sharon 2019 - - ? Israel - - - - - 1 Stéphanie Cornelis
+/. 7 c.834del r.(?) p.(Asp279Ilefs*21) Unknown - pathogenic (recessive) g.94548932del g.94083376del c.834del p.(Asp279Ilefs*21) - ABCA4_001022 no variant 2nd chromosome PubMed: Hanany 2018 - - Unknown - - - - - DNA SEQ-NG - - retinal disease Unknown 1216 PubMed: Hanany 2018 mutations were not reported per patient, so a second mutation might be present - ? Israel - - - - - 1 Stéphanie Cornelis
+/. 7 c.834del r.(?) p.(Asp279Ilefs*21) Unknown - pathogenic (recessive) g.94548932del g.94083376del c.834delT p.Asp279Ilefs*21 Het - ABCA4_001022 - Prevention Genetics - - Unknown - - - - - DNA SEQ-NG - IRD panel retinal disease 2019-182-234 Prevention Genetics - - ? - African American - - - - 1 Stéphanie Cornelis
+/. 7 c.834del r.(?) p.(Asp279Ilefs*21) Unknown - pathogenic (recessive) g.94548932del g.94083376del c.834delT,p.Ser278SerfsTer22 - ABCA4_001022 - PubMed: Fujinami 2019 - - Unknown - - - - - DNA SEQ-NG - SEQ-NG (143 cases), APEX (44 cases), SSCP (24 cases), SEQ (134) retinal disease 19001 PubMed: Fujinami 2019 191 F, 154 M in this study - ? United States - - - - - 1 Stéphanie Cornelis
+/. 7 c.834del r.(?) p.(Asp279Ilefs*21) Unknown - pathogenic (recessive) g.94548932delA - c.834delT - ABCA4_001022 - PubMed: Nishiguchi-2012 - - Unknown - - - - - DNA SEQ blood - Healthy/Control - PubMed: Nishiguchi-2012 - - - - Yoruba - - - - 1 LOVD
+/. - c.834del r.(?) p.(Asp279Ilefs*21) Both (homozygous) ACMG pathogenic g.94548932del g.94083376del - - ABCA4_001022 - PubMed: Hitti-Malin 2022, Journal: Hitti-Malin 2022 - - Germline - - - - - DNA MIPsm - smMIPs 105 iMD/AMD genes retinal disease 070901 PubMed: Hitti-Malin 2022, Journal: Hitti-Malin 2022 - F - - - - - - - 1 Rebekkah Hitti-Malin
+/. 7 c.834del r.(?) p.(Asp279Ilefs*21) Unknown - pathogenic (recessive) g.94548932del - c.834del - ABCA4_001022 unknown variant 2nd chromosome PubMed: Khan 2020 - - Unknown ? - - - - DNA MIPsm - smMIPs-based complete ABCA4 gene retinal disease 70901 PubMed: Khan 2020 - F - Israel - - - - - 1 LOVD
+/. - c.834del r.(?) p.(Asp279IlefsTer21) Unknown - pathogenic (recessive) g.94548932del g.94083376del - - ABCA4_001022 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Unknown - - - - - DNA SEQ-NG - - retinal disease L-0138 PubMed: Cornelis 2024, Journal: Cornelis 2024 - F - France - - - - - 1 Frans Cremers
+/. - c.834del r.(?) p.(Asp279IlefsTer21) Unknown - pathogenic (recessive) g.94548932del g.94083376del - - ABCA4_001022 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Germline/De novo (untested) - - - - - DNA SEQ - - retinal disease MEH-nonmild-198 PubMed: Cornelis 2024, Journal: Cornelis 2024 family, 2 affected F - United Kingdom (Great Britain) - - - - - 2 Stéphanie Cornelis
+/. - c.834del r.(?) p.(Asp279IlefsTer21) Unknown - pathogenic (recessive) g.94548932del g.94083376del - - ABCA4_001022 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Germline/De novo (untested) - - - - - DNA SEQ - - retinal disease MEH-other-58 PubMed: Cornelis 2024, Journal: Cornelis 2024 relative of MEH-nonmild-198 F - United Kingdom (Great Britain) - - - - - 1 Stéphanie Cornelis
+/. - c.834del r.(?) p.(Asp279IlefsTer21) Unknown - pathogenic (recessive) g.94548932del g.94083376del - - ABCA4_001022 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Germline/De novo (untested) - - - - - DNA SEQ - - retinal disease MEH-mild-197 PubMed: Cornelis 2024, Journal: Cornelis 2024 - M - United Kingdom (Great Britain) - - - - - 1 Stéphanie Cornelis
+/. - c.834del r.(?) p.(Asp279IlefsTer21) Unknown - pathogenic (recessive) g.94548932del g.94083376del - - ABCA4_001022 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Germline/De novo (untested) - - - - - DNA SEQ - - retinal disease MEH-nonmild-432 PubMed: Cornelis 2024, Journal: Cornelis 2024 - F - United Kingdom (Great Britain) - - - - - 1 Stéphanie Cornelis
+/. 7 c.834del r.(?) p.(Asp279IlefsTer21) Unknown ACMG pathogenic g.94548932del g.94083376del - - ABCA4_001022 ACMG PVS1, PS4, PM3; severity category severe Journal: Cornelis 2023 - - SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
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