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.

24 entries on 1 page. Showing entries 1 - 24.
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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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Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Template     

Technique     

Tissue     

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Disease     

ID_report     

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Owner     
?/. 23 c.3482G>A r.(?) p.(Arg1161His) Parent #2 - VUS g.94506805C>T g.94041249C>T - - ABCA4_001294 - PubMed: Hu 2019 - - Germline - - - - - DNA SEQ-NG peripheral blood - STGD1 P8 PubMed: Hu 2019 - M yes China Asian 24y - yes none 1 Fangyuan Hu
+?/. - c.3482G>A r.(?) p.(Arg1161His) Unknown ACMG likely pathogenic g.94506805C>T - - - ABCA4_001294 - PubMed: Sharon 2019 - - Germline - 1/2420 IRD families - - - DNA SEQ - - retinal disease - PubMed: Sharon 2019 1 IRD family - - Israel - - - - - 1 Global Variome, with Curator vacancy
+/. 23 c.3482G>A r.(?) p.(Arg1161His) Unknown - pathogenic (recessive) g.94506805C>T g.94041249C>T - - ABCA4_001294 - PubMed: Birtel 2018 - - Germline - - - - - DNA SEQ - - retinal disease Pat79 PubMed: Birtel 2018 patient F - Germany - - - - - 1 LOVD
+?/. 23 c.3482G>A r.(?) p.(Arg1161His) Parent #1 - likely pathogenic (recessive) g.94506805C>T g.94041249C>T p.R1161H - ABCA4_001294 - PubMed: Jiang 2016 - - Unknown yes - - - - DNA PCR, SEQ - - retinal disease 10020 PubMed: Jiang 2016 - - ? China - - - - - 1 Stéphanie Cornelis
+?/. 23 c.3482G>A r.(?) p.(Arg1161His) Parent #1 - likely pathogenic (recessive) g.94506805C>T g.94041249C>T p.R1161H - ABCA4_001294 - PubMed: Jiang 2016 - - Unknown yes - - - - DNA PCR, SEQ - - retinal disease 10227 PubMed: Jiang 2016 - - ? China - - - - - 1 Stéphanie Cornelis
+?/. 23 c.3482G>A r.(?) p.(Arg1161His) Unknown - likely pathogenic (recessive) g.94506805C>T g.94041249C>T c.3482G>A p.(R1161H) - ABCA4_001294 no variant 2nd chromosome PubMed: Schulz 2017 - - Unknown - - - - - DNA arraySEQ, SEQ-NG - RetChip retinal disease Unknown 453 PubMed: Schulz 2017 191 F, 144 M in this study - ? Germany - - - - - 1 Stéphanie Cornelis
+?/. 23 c.3482G>A r.(?) p.(Arg1161His) Unknown - likely pathogenic (recessive) g.94506805C>T g.94041249C>T c.3482G>A - ABCA4_001294 no variant 2nd chromosome PubMed: Sharon 2019 - - Unknown - - - - - DNA SEQ-NG - - retinal disease Unknown 819 PubMed: Sharon 2019 - - ? Israel - - - - - 1 Stéphanie Cornelis
+?/. 23 c.3482G>A r.(?) p.(Arg1161His) Unknown - likely pathogenic (recessive) g.94506805C>T g.94041249C>T c.3482G>A - ABCA4_001294 no variant 2nd chromosome PubMed: Hu 2019 - - Unknown - - - - - DNA SEQ-NG - - retinal disease Unknown 1053 PubMed: Hu 2019 - - ? China China - - - - 1 Stéphanie Cornelis
+?/. 23 c.3482G>A r.(?) p.(Arg1161His) Unknown - likely pathogenic (recessive) g.94506805C>T g.94041249C>T NM_000350.2:c.3482G>A; p.(Arg1161His)2. - ABCA4_001294 - PubMed: Patel 2018 - - Unknown - - - - - DNA SEQ-NG - WES retinal disease 09DG01320 PubMed: Patel 2018 - - no - Syria - - - - 1 Stéphanie Cornelis
+?/. 23 c.3482G>A r.(?) p.(Arg1161His) Unknown - likely pathogenic (recessive) g.94506805C>T g.94041249C>T p.Arg1161His - ABCA4_001294 - PubMed: Birtel 2018 - - Unknown - - - - - DNA SEQ - - retinal disease 79 PubMed: Birtel 2018 - F no Germany - - - - - 1 Stéphanie Cornelis
+?/. 23 c.3482G>A r.(?) p.(Arg1161His) Unknown - likely pathogenic (recessive) g.94506805C>T g.94041249C>T c.3482G>A,p.Arg1161His - ABCA4_001294 - PubMed: Fujinami 2019 - - Unknown - - - - - DNA SEQ-NG - SEQ-NG (143 cases), APEX (44 cases), SSCP (24 cases), SEQ (134) retinal disease 15098 PubMed: Fujinami 2019 191 F, 154 M in this study - ? Germany - - - - - 1 Stéphanie Cornelis
+?/. 23 c.3482G>A r.(?) p.(Arg1161His) Unknown - likely pathogenic (recessive) g.94506805C>T g.94041249C>T c.3482G>A - ABCA4_001294 - PubMed: Hu 2019 - - Unknown - - - - - DNA SEQ-NG - - retinal disease P8 PubMed: Hu 2019 - M ? China China - - - - 1 Stéphanie Cornelis
+?/. 23 c.3482G>A r.(?) p.(Arg1161His) Unknown - likely pathogenic (recessive) g.94506805C>T g.94041249C>T c.3482G>A - ABCA4_001294 - PubMed: Liu 2020 - - Unknown yes - - - - DNA SEQ-NG - - retinal disease A032 PubMed: Liu 2020 - - ? China - - - - - 1 Stéphanie Cornelis
+?/. 23 c.3482G>A r.(?) p.(Arg1161His) Unknown - likely pathogenic (recessive) g.94506805C>T g.94041249C>T c.3482G>A/p.R1161H - ABCA4_001294 no segregation analysis done PubMed: Weisschuh 2020 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease 357 PubMed: Weisschuh 2020 - F ? Germany - - - - - 1 Stéphanie Cornelis
+/. - c.3482G>A r.(?) p.(Arg1161His) Parent #1 - pathogenic (recessive) g.94506805C>T g.94041249C>T - - ABCA4_001294 - PubMed: Tian 2024 - - Germline yes - - - - DNA SEQ - - retinal disease - PubMed: Tian 2024 - M - China - - - - - 1 Lu Tian
+/. - c.3482G>A r.(?) p.(Arg1161His) Parent #1 - pathogenic (recessive) g.94506805C>T g.94041249C>T - - ABCA4_001294 - PubMed: Tian 2024 - - Germline yes - - - - DNA SEQ - - retinal disease - PubMed: Tian 2024 - F - China - - - - - 1 Lu Tian
+/. - c.3482G>A r.(?) p.(Arg1161His) Parent #2 - pathogenic (recessive) g.94506805C>T g.94041249C>T - - ABCA4_001294 - PubMed: Tian 2024 - - Germline yes - - - - DNA SEQ - - retinal disease - PubMed: Tian 2024 - F - China - - - - - 1 Lu Tian
+?/. 23 c.3482G>A r.(?) p.(Arg1161His) Both (homozygous) - likely pathogenic (recessive) g.94506805C>T - c.3482G>A - ABCA4_001294 - PubMed: Khan 2020 - - Unknown ? - - - - DNA MIPsm - - retinal disease 70231 PubMed: Khan 2020 - M - Israel - - - - - 1 LOVD
+?/. 23 c.3482G>A r.(?) p.(Arg1161His) Both (homozygous) - likely pathogenic (recessive) g.94506805C>T - c.3482G>A - ABCA4_001294 - PubMed: Khan 2020 - - Unknown ? - - - - DNA MIPsm - - retinal disease 70231 PubMed: Khan 2020 - M - Israel - - - - - 1 LOVD
+?/. - c.3482G>A r.(?) p.(Arg1161His) Parent #2 - likely pathogenic (recessive) g.94506805C>T g.94041249C>T - - ABCA4_001294 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Germline yes - - - - DNA DHPLC, SEQ - - retinal disease L-0722 PubMed: Cornelis 2024, Journal: Cornelis 2024 - M - France - - - - - 1 Frans Cremers
+?/. - c.3482G>A r.(?) p.(Arg1161His) Unknown - likely pathogenic (recessive) g.94506805C>T g.94041249C>T - - ABCA4_001294 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Germline/De novo (untested) - - - - - DNA SEQ - - retinal disease MEH-nonmild-242 PubMed: Cornelis 2024, Journal: Cornelis 2024 - F - United Kingdom (Great Britain) - - - - - 1 Stéphanie Cornelis
+?/. - c.3482G>A r.(?) p.(Arg1161His) Unknown - likely pathogenic (recessive) g.94506805C>T g.94041249C>T - - ABCA4_001294 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Germline/De novo (untested) - - - - - DNA SEQ - - retinal disease MEH-nonmild-388 PubMed: Cornelis 2024, Journal: Cornelis 2024 - F - United Kingdom (Great Britain) - - - - - 1 Stéphanie Cornelis
+?/. - c.3482G>A r.(?) p.(Arg1161His) Unknown - likely pathogenic (recessive) g.94506805C>T g.94041249C>T - - ABCA4_001294 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Germline/De novo (untested) - - - - - DNA SEQ - - retinal disease MEH-nonmild-371 PubMed: Cornelis 2024, Journal: Cornelis 2024 - M - United Kingdom (Great Britain) - - - - - 1 Stéphanie Cornelis
+?/. 23 c.3482G>A r.(?) p.(Arg1161His) Unknown ACMG likely pathogenic g.94506805C>T g.94041249C>T - - ABCA4_001294 ACMG PS4, PM3_S, PP3; severity category moderate Journal: Cornelis 2023 - - SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
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