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)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Template     

Technique     

Tissue     

Remarks     

Disease     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age at death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
-?/. 22 c.3289A>T r.(?) p.(Arg1097*) Unknown - likely benign g.94508356T>A g.94042800T>A c.3289A>T - ABCA4_000635 - PubMed: Fujinami 2013 - - Germline ? - - - - DNA PE, PCR, SEQ, SEQ-NG-R - APEX ? - PubMed: Fujinami 2013 - ? ? United Kingdom (Great Britain) ? - - - - 1 Stéphanie Cornelis
+/. 22 c.3289A>T r.(3289a>u) p.(Arg1097Ter) Parent #1 ACMG pathogenic (recessive) g.94508356T>A g.94042800T>A - - ABCA4_000635 - PubMed: Cornelis 2017, Journal: Cornelis 2017, Journal: Cornelis 2023 - - SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
+/. 22 c.3289A>T r.(?) p.(Arg1097*) Parent #1 - pathogenic g.94508356T>A g.94042800T>A - - ABCA4_000635 unknown variant 2nd allele PubMed: Khan 2019 - - Unknown no - - - - DNA SEQ, MIPsm - - STGD1 ? PubMed: Khan 2019 - - - Germany - - - - - 1 Stéphanie Cornelis
+/. 22 c.3289A>T r.(?) p.(Arg1097*) Parent #1 - pathogenic g.94508356T>A g.94042800T>A - - ABCA4_000635 - PubMed: Khan 2019 - - Germline yes - - - - DNA SEQ, MIPsm - - STGD1 ? PubMed: Khan 2019 - - - France - - - - - 1 Stéphanie Cornelis
+?/. - c.3289A>T r.(?) p.(Arg1097*) Parent #2 - likely pathogenic g.94508356T>A g.94042800T>A - - ABCA4_000635 - PubMed: Stone 2017 - - Germline - - - - - DNA SEQ-NG - - retinal disease 686 PubMed: Stone 2017 family, 3 affected M - (United States) - - - - - 3 LOVD
+/. 22 c.3289A>T r.(?) p.(Arg1097*) Parent #1 - pathogenic (recessive) g.94508356T>A g.94042800T>A p.[Arg1097*];c.[5196+1G>A] - ABCA4_000635 - PubMed: Fujinami 2015 - - Unknown yes - - - - DNA ? - - retinal disease 6 PubMed: Fujinami 2015 - - no United Kingdom (Great Britain) - - - - - 1 Stéphanie Cornelis
+/. 22 c.3289A>T r.(?) p.(Arg1097*) Both (homozygous) - pathogenic (recessive) g.94508356T>A g.94042800T>A c.3289A>T p.R1097X - ABCA4_000635 - PubMed: Fakin 2016 - - Unknown - - - - - DNA ? - - retinal disease 21543 PubMed: Fakin 2016 - - ? United Kingdom (Great Britain) - - - - - 1 Stéphanie Cornelis
+/. 22 c.3289A>T r.(?) p.(Arg1097*) Unknown - pathogenic (recessive) g.94508356T>A g.94042800T>A c.3289A>T p.(R1097*) - ABCA4_000635 no variant 2nd chromosome PubMed: Schulz 2017 - - Unknown - - - - - DNA arraySEQ, SEQ-NG - RetChip retinal disease Unknown 447 PubMed: Schulz 2017 191 F, 144 M in this study - ? Germany - - - - - 1 Stéphanie Cornelis
+/. 22 c.3289A>T r.(?) p.(Arg1097*) Unknown - pathogenic (recessive) g.94508356T>A g.94042800T>A c.[3289A>T] - ABCA4_000635 no segregation analysis done PubMed: Bauwens 2019 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease P4T2 PubMed: Bauwens 2019 - F ? - - - - - - 1 Stéphanie Cornelis
+/. 22 c.3289A>T r.(?) p.(Arg1097*) Parent #1 - pathogenic (recessive) g.94508356T>A g.94042800T>A c.3289A>T p.(Arg1097*) - ABCA4_000635 - PubMed: Khan 2019 - - Unknown yes - - - - DNA SEQ-NG, MIPsm - smMIPs of exons and few intronic regions retinal disease 67118 PubMed: Khan 2019 - - ? France - - - - - 1 Stéphanie Cornelis
+/. 22 c.3289A>T r.(?) p.(Arg1097*) Unknown - pathogenic (recessive) g.94508356T>A g.94042800T>A c.3289A>T/p.R1097* - ABCA4_000635 - PubMed: Weisschuh 2020 - - Unknown yes - - - - DNA SEQ-NG-I - - retinal disease 375 PubMed: Weisschuh 2020 - F ? Germany - - - - - 1 Stéphanie Cornelis
+/. 22 c.3289A>T r.(?) p.(Arg1097*) Unknown - pathogenic (recessive) g.94508356T>A g.94042800T>A c.3289A>T p.R1097X - ABCA4_000635 - PubMed: Fakin 2016 - - Unknown - - - - - DNA ? - - retinal disease 20027,1 PubMed: Fakin 2016 - - ? United Kingdom (Great Britain) - - - - - 1 Stéphanie Cornelis
+/. 22 c.3289A>T r.(?) p.(Arg1097*) Unknown - pathogenic (recessive) g.94508356T>A g.94042800T>A c.3289A>T p.R1097X - ABCA4_000635 - PubMed: Fakin 2016 - - Unknown - - - - - DNA ? - - retinal disease 20027,2 PubMed: Fakin 2016 - - ? United Kingdom (Great Britain) - - - - - 1 Stéphanie Cornelis
+/. 22 c.3289A>T r.(?) p.(Arg1097*) Unknown - pathogenic (recessive) g.94508356T>A g.94042800T>A c.3289A>T Arg1097Stop AGA>TGA - ABCA4_000635 no segregation analysis done PubMed: Stone 2017 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease 686 PubMed: Stone 2017 - M ? - - - - - - 1 Stéphanie Cornelis
+/. 22 c.3289A>T r.(?) p.(Arg1097*) Parent #1 - pathogenic (recessive) g.94508356T>A - c.[2588G>C;3289A>T;5603A>T] - ABCA4_000635 unknown variant 2nd chromosome PubMed: Khan 2020 - - Unknown ? - - - - DNA MIPsm - smMIPs-based complete ABCA4 gene retinal disease 66685 PubMed: Khan 2019PubMed: Khan 2020 - F - Germany - - - - - 1 LOVD
+/. - c.3289A>T r.(?) p.(Arg1097Ter) Parent #1 - pathogenic (recessive) g.94508356T>A g.94042800T>A - - ABCA4_000635 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Germline yes - - - - DNA SEQ - - retinal disease L-0118 PubMed: Cornelis 2024, Journal: Cornelis 2024 - F - France - - - - - 1 Frans Cremers
+/. - c.3289A>T r.(?) p.(Arg1097Ter) Parent #1 - pathogenic (recessive) g.94508356T>A g.94042800T>A - - ABCA4_000635 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Germline yes - - - - DNA DHPLC, SEQ - - retinal disease L-0811 PubMed: Cornelis 2024, Journal: Cornelis 2024 - F - France - - - - - 1 Frans Cremers
+/. - c.3289A>T r.(?) p.(Arg1097Ter) Unknown - pathogenic (recessive) g.94508356T>A g.94042800T>A - - ABCA4_000635 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Germline/De novo (untested) - - - - - DNA SEQ - - retinal disease MEH-nonmild-56 PubMed: Cornelis 2024, Journal: Cornelis 2024 - M - United Kingdom (Great Britain) - - - - - 1 Stéphanie Cornelis
+/. - c.3289A>T r.(?) p.(Arg1097Ter) Unknown - pathogenic (recessive) g.94508356T>A g.94042800T>A - - ABCA4_000635 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Germline/De novo (untested) - - - - - DNA SEQ - - retinal disease MEH-nonmild-227 PubMed: Cornelis 2024, Journal: Cornelis 2024 - M - United Kingdom (Great Britain) - - - - - 1 Stéphanie Cornelis
+/. - c.3289A>T r.(?) p.(Arg1097Ter) Unknown - pathogenic (recessive) g.94508356T>A g.94042800T>A - - ABCA4_000635 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Germline/De novo (untested) - - - - - DNA SEQ - - retinal disease MEH-nonmild-395 PubMed: Cornelis 2024, Journal: Cornelis 2024 - M - United Kingdom (Great Britain) - - - - - 1 Stéphanie Cornelis
+/. - c.3289A>T r.(?) p.(Arg1097Ter) Unknown - pathogenic (recessive) g.94508356T>A g.94042800T>A - - ABCA4_000635 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Germline/De novo (untested) - - - - - DNA SEQ - - retinal disease MEH-mild-304 PubMed: Cornelis 2024, Journal: Cornelis 2024 family, 2 affected F - United Kingdom (Great Britain) - - - - - 2 Stéphanie Cornelis
+/. - c.3289A>T r.(?) p.(Arg1097Ter) Unknown - pathogenic (recessive) g.94508356T>A g.94042800T>A - - ABCA4_000635 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Germline/De novo (untested) - - - - - DNA SEQ - - retinal disease MEH-other-108 PubMed: Cornelis 2024, Journal: Cornelis 2024 relative of MEH-mild-304 M - United Kingdom (Great Britain) - - - - - 1 Stéphanie Cornelis
+/. 22 c.3289A>T r.(?) p.(Arg1097Ter) Parent #1 ACMG pathogenic g.94508356T>A g.94042800T>A - - ABCA4_000635 - PubMed: Hitti-Malin 2024, Journal: Hitti-Malin 2024 - - Germline - - - - - DNA SEQ, SEQ-NG - smMIP-based 105 iMD/AMD genes macular dystrophy 073571 PubMed: Hitti-Malin 2024, Journal: Hitti-Malin 2024 - M - - - - - - - 1 Rebekkah Hitti-Malin
?/. - c.3289A>T r.(?) p.(Arg1097Ter) Parent #1 ACMG VUS g.94508356T>A g.94042800T>A c.[2588G>C;3289A>T;5603A>T] - ABCA4_000635 case unsolved PubMed: Hitti-Malin 2024, Journal: Hitti-Malin 2024 - - Germline - - - - - DNA SEQ - smMIP-based 105 iMD/AMD genes macular dystrophy 066685 PubMed: Hitti-Malin 2024, Journal: Hitti-Malin 2024 - - - - - - - - - 1 Johan den Dunnen
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