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.

41 entries on 1 page. Showing entries 1 - 41.
Legend   How to query  

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     
+/. 1 c.1A>G r.(?) p.0? Both (homozygous) - pathogenic g.94586601T>C g.94121045T>C c.6089G>A p.Arg2030Gln rs61750641 (homozygous) - ABCA4_000264 - PubMed: Eisenberger 2013 - - Germline - - - - - DNA SEQ-NG-I, SEQ-NG-R, SEQ - - retinal disease - PubMed: Eisenberger 2013 - F yes Germany German - - - - 1 Stéphanie Cornelis
+?/. 1 c.1A>G r.(?) p.0? Parent #2 - likely pathogenic g.94586601T>C g.94121045T>C c.[1A>G]+[6089G>A] - ABCA4_000264 - PubMed: Maia-Lopes 2009 - - Germline - - - - - DNA PCR, PE, DHPLC, SEQ - APEX STGD1 - PubMed: Maia-Lopes 2009 - ? ? Portugal ? - - - - 1 Stéphanie Cornelis
+?/. 1 c.1A>G r.(?) p.0? Parent #1 - likely pathogenic g.94586601T>C g.94121045T>C M1V/R2030Q - ABCA4_000264 - PubMed: Burke 2010 - - Germline - - - - - DNA PE, SEQ - APEX STGD1 - PubMed: Burke 2010 - F ? - ? - - - - 1 Stéphanie Cornelis
+?/. 1 c.1A>G r.(?) p.0? Parent #1 - likely pathogenic g.94586601T>C g.94121045T>C M1V;R2030Q - ABCA4_000264 - PubMed: Maia-Lopes 2008 - - Germline - - - - - DNA PE, SEQ - APEX STGD1 - PubMed: Maia-Lopes 2008 Not the patients themselves, but a first relative was genotyped. The expectation is that the patient has at least this mutation as well. F ? - ? - - - - 1 Stéphanie Cornelis
+?/. 1 c.1A>G r.(?) p.0? Parent #1 - likely pathogenic g.94586601T>C g.94121045T>C Met1Val;Arg2030Gln - ABCA4_000264 - PubMed: Oldani 2012 - - Germline ? - - - - DNA PCR, SEQ - - STGD1 - PubMed: Oldani 2012 - ? ? - ? - - - - 1 Stéphanie Cornelis
+?/. 1 c.1A>G r.(?) p.0? Unknown - likely pathogenic g.94586601T>C g.94121045T>C Met1Val - ABCA4_000264 - PubMed: Oldani 2012 - - Germline - - - - - DNA PCR, SEQ - - STGD1 - PubMed: Oldani 2012 - ? ? - ? - - - - 1 Stéphanie Cornelis
+?/. 1 c.1A>G r.(?) p.0? Parent #1 - likely pathogenic g.94586601T>C g.94121045T>C 1A>G - ABCA4_000264 - PubMed: Downes 2012 - - Germline - - - - - DNA SEQ, MLPA - - STGD1 - PubMed: Downes 2012 - ? ? - ? - - - - 1 Stéphanie Cornelis
+?/. 1 c.1A>G r.(?) p.0? Unknown - likely pathogenic g.94586601T>C g.94121045T>C [c.1A>G;p.R2030Q] - ABCA4_000264 - PubMed: Nõupuu 2014 - - Germline - - - - - DNA SEQ, SEQ-NG-I - - STGD1 - PubMed: Nõupuu 2014 - M ? - ? - - - - 1 Stéphanie Cornelis
+?/. 1 c.1A>G r.(1a>g) p.(Met1?) Parent #1 ACMG likely pathogenic (recessive) g.94586601T>C g.94121045T>C - - ABCA4_000264 - PubMed: Cornelis 2017, Journal: Cornelis 2017, Journal: Cornelis 2023 - - SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
+/. 1 c.1A>G r.(?) p.0? Unknown - pathogenic g.94586601T>C g.94121045T>C - - ABCA4_000264 - Sharon, submitted - - Germline - - - - - DNA SEQ - - STGD1 - Sharon, submitted - F no Israel Jewish-Ashkenazi - - - - 1 Dror Sharon
+/. - c.1A>G r.(?) p.0? Parent #1 ACMG pathogenic g.94586601T>C - c.[1A>G;6089G>A] - ABCA4_000264 - 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
+/. 1 c.1A>G r.(?) p.(Met1Val) Unknown - pathogenic (recessive) g.94586601T>C g.94121045T>C M1V - ABCA4_000264 segregation analysis done when possible PubMed: Chen 2010 - - Unknown - - - - - DNA SEQ - - retinal disease S0039 PubMed: Chen 2010 - - ? United States - - - - - 1 Stéphanie Cornelis
+/. 1 c.1A>G r.(?) p.(Met1Val) Unknown - pathogenic (recessive) g.94586601T>C g.94121045T>C c.1A>G p.(M1?) - ABCA4_000264 no variant 2nd chromosome PubMed: Schulz 2017 - - Unknown - - - - - DNA arraySEQ, SEQ-NG - RetChip retinal disease Unknown 371 PubMed: Schulz 2017 191 F, 144 M in this study - ? Germany - - - - - 1 Stéphanie Cornelis
+/. 1 c.1A>G r.(?) p.(Met1Val) Parent #1 - pathogenic (recessive) g.94586601T>C g.94121045T>C c.[1A>G;6089G>A] (p.[?;Arg2030Gln]) - ABCA4_000264 - PubMed: Zernant 2017 - - Unknown yes - - - - DNA SEQ-NG-I - - retinal disease 3586 PubMed: Zernant 2017 - - ? United States - - - - - 1 Stéphanie Cornelis
+/. 1 c.1A>G r.(?) p.(Met1Val) Parent #1 - pathogenic (recessive) g.94586601T>C g.94121045T>C c.1A>G (p.?) - ABCA4_000264 - PubMed: Zernant 2017 - - Unknown yes - - - - DNA SEQ-NG-I - - retinal disease 3016 PubMed: Zernant 2017 - - ? United States - - - - - 1 Stéphanie Cornelis
+/. 1 c.1A>G r.(?) p.(Met1Val) Parent #1 - pathogenic (recessive) g.94586601T>C g.94121045T>C c.[1A>G;6089G>A] (p.[?;Arg2030Gln]) - ABCA4_000264 no segregation analysis done PubMed: Zernant 2017 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease 3236 PubMed: Zernant 2017 - - ? United States - - - - - 1 Stéphanie Cornelis
+/. 1 c.1A>G r.(?) p.(Met1Val) Unknown - pathogenic (recessive) g.94586601T>C g.94121045T>C c.1A>G - ABCA4_000264 - PubMed: Cai 2018 - - Unknown - - - - - DNA ? - - retinal disease P4 PubMed: Cai 2018 - F ? United States - - - - - 1 Stéphanie Cornelis
+/. 1 c.1A>G r.(?) p.(Met1Val) Unknown - pathogenic (recessive) g.94586601T>C g.94121045T>C c.1A>G, p.Met1Val(splice site alteration) - ABCA4_000264 - PubMed: Fujinami 2019 - - Unknown - - - - - DNA SEQ-NG - SEQ-NG (143 cases), APEX (44 cases), SSCP (24 cases), SEQ (134) retinal disease 11015 PubMed: Fujinami 2019 191 F, 154 M in this study - ? United States - - - - - 1 Stéphanie Cornelis
+/. 1 c.1A>G r.(?) p.(Met1Val) Unknown - pathogenic (recessive) g.94586601T>C g.94121045T>C c.1A>G, p.Met1Val(splice site alteration) - ABCA4_000264 - PubMed: Fujinami 2019 - - Unknown - - - - - DNA SEQ-NG - SEQ-NG (143 cases), APEX (44 cases), SSCP (24 cases), SEQ (134) retinal disease 11026 PubMed: Fujinami 2019 191 F, 154 M in this study - ? United States - - - - - 1 Stéphanie Cornelis
+/. 1 c.1A>G r.(?) p.(Met1Val) Unknown - pathogenic (recessive) g.94586601T>C g.94121045T>C c.1A>G, p.Met1Val(splice site alteration) - ABCA4_000264 - PubMed: Fujinami 2019 - - Unknown - - - - - DNA SEQ-NG - SEQ-NG (143 cases), APEX (44 cases), SSCP (24 cases), SEQ (134) retinal disease 12025 PubMed: Fujinami 2019 191 F, 154 M in this study - ? United States - - - - - 1 Stéphanie Cornelis
+/. 1 c.1A>G r.(?) p.(Met1Val) Both (homozygous) - pathogenic (recessive) g.94586601T>C g.94121045T>C c.1A>G p.(Met1?) - ABCA4_000264 - PubMed: Tayebi 2019 - - Unknown - - - - - DNA MIPsm, SEQ - exons retinal disease 66,592 PubMed: Tayebi 2019 - - ? Iran Iran - - - - 1 Stéphanie Cornelis
+/. 1 c.1A>G r.(?) p.(Met1Val) Unknown - pathogenic (recessive) g.94586601T>C g.94121045T>C c.[1A>G;6089G>A] - ABCA4_000264 - PubMed: Sharon 2019 - - Unknown - - - - - DNA SEQ-NG - - retinal disease Unknown 775 PubMed: Sharon 2019 - - ? Israel - - - - - 1 Stéphanie Cornelis
+/. 1 c.1A>G r.(?) p.(Met1Val) Parent #1 - pathogenic (recessive) g.94586601T>C g.94121045T>C c.[1A>G;6089G>A] p.[Met1Val;Arg2030Gln] - ABCA4_000264 - PubMed: Del Pozo-Valero 2020 - - Germline yes - - - - DNA SEQ-NG - - retinal disease MD-0555 PubMed: Del Pozo-Valero 2020 - - ? Spain - - - - - 1 Stéphanie Cornelis
+/. 1 c.1A>G r.(?) p.(Met1Val) Unknown - pathogenic (recessive) g.94586601T>C g.94121045T>C c.1A>G p.(Met1?) - ABCA4_000264 no variant 2nd chromosome PubMed: Hanany 2018 - - Unknown - - - - - DNA SEQ-NG - - retinal disease Unknown 1222 PubMed: Hanany 2018 mutations were not reported per patient, so a second mutation might be present - ? Israel - - - - - 1 Stéphanie Cornelis
+/. 1 c.1A>G r.(?) p.(Met1Val) Unknown - pathogenic (recessive) g.94586601T>C g.94121045T>C c.1A>G p.Met1? het - ABCA4_000264 - Prevention Genetics - - Unknown - - - - - DNA SEQ-NG - STGDMD panel retinal disease 2016-196-026 Prevention Genetics - - ? - Jewish-Ashkenazi - - - - 1 Stéphanie Cornelis
+/. 1 c.1A>G r.(?) p.(Met1Val) Unknown - pathogenic (recessive) g.94586601T>C g.94121045T>C het c.1A>G p.Met1Val - ABCA4_000264 - PubMed: Gliem 2020 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease 29 PubMed: Gliem 2020 - M ? Germany - - - - - 1 Stéphanie Cornelis
+/. 1 c.1A>G r.(?) p.(Met1Val) Unknown - pathogenic (recessive) g.94586601T>C g.94121045T>C c.1A>G, p.Met1Val heterozygous - ABCA4_000264 - PubMed: Goetz 2020 - - Unknown - - - - - DNA arraySEQ, SEQ - Gene Chip retinal disease 6070-626 PubMed: Goetz 2020 - - ? - - - - - - 1 Stéphanie Cornelis
+/. 1 c.1A>G r.(?) p.(Met1Val) Unknown - pathogenic (recessive) g.94586601T>C g.94121045T>C c.1A>G, p.Met1Val heterozygous - ABCA4_000264 - PubMed: Goetz 2020 - - Unknown - - - - - DNA arraySEQ, SEQ - Gene Chip retinal disease 6437-817 PubMed: Goetz 2020 - - ? - - - - - - 1 Stéphanie Cornelis
+/. 1 c.1A>G r.? p.? Both (homozygous) - pathogenic g.94586601T>C - c.1A>G - ABCA4_000264 - PubMed: Eisenberger-2013 - - Germline - - - - - DNA SEQ-NG-I, SEQ-NG-R, SEQ - - retinal disease - PubMed: Eisenberger 2013 - F yes Germany German - - - - 1 Stéphanie Cornelis
+?/. 1 c.1A>G r.(?) p.(Met1?) Unknown - likely pathogenic g.94586601T>C g.94121045T>C ABCA4 Ex.1 c.1A>G p.(?), Ex.22 c.3210_3211dup p.(Ser1071Cysfs*14), ABCA4: Ex.44 c.6089G>A p.(Arg2030Gln) - ABCA4_000264 compound heterozygous PubMed: Martin Merida 2019 - - Germline/De novo (untested) ? - - - - DNA SEQ-NG-I - - retinal disease RP-1112 PubMed: Martin Merida 2019 - ? - Spain - - - - - 1 LOVD
+?/. 1 c.1A>G r.(?) p.(Met1?) Both (homozygous) - likely pathogenic g.94586601T>C g.94121045T>C c.1A>G, p.(Met1?) - ABCA4_000264 Homozygous PubMed: Tayebi 2019 - - Germline yes - - - - DNA SEQ-NG-I blood 108-gene panel targeted resequencing using MIPs library prep retinal disease 066592 PubMed: Tayebi 2019 - - - Iran - - - - - 1 LOVD
+?/. 1 c.1A>G r.? p.? Unknown - likely pathogenic g.94586601T>C - c.1A>G - ABCA4_000264 - PubMed: Maggi_2021 - - Germline - - - - - DNA SEQ - - retinal disease - PubMed: Maggi_2021 - F - Switzerland - - - - - 1 LOVD
+/. 1 c.1A>G r.? p.(Met1Val) Parent #1 ACMG pathogenic (recessive) g.94586601T>C - - - ABCA4_000264 - Bianco 2023, submitted - - Germline yes - - - - DNA SEQ-NG-I Peripheral Blood Sample - STGD1 601691#66 Bianco 2023, submitted - M no Italy - - - - - 1 Lorenzo Bianco
+/. - c.1A>G r.(?) p.? Unknown - pathogenic g.94586601T>C - - - ABCA4_000264 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 1 c.1A>G r.(?) p.(Met1?) Parent #1 ACMG likely pathogenic (recessive) g.94586601T>C g.94121045T>C - - ABCA4_000264 - PubMed: Corradi 2023, Journal: Corradi 2023 - - Germline yes - - - - DNA MIPsm, SEQ-NG - - retinal disease Pat37 PubMed: Corradi 2023, Journal: Corradi 2023 - F - - - - - - - 1 Zelia Corradi
+?/. - c.1A>G r.(?) p.(Met1?) Unknown - likely pathogenic (recessive) g.94586601T>C g.94121045T>C - - ABCA4_000264 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease L-0438 PubMed: Cornelis 2024, Journal: Cornelis 2024 - F - France - - - - - 1 Frans Cremers
+?/. - c.1A>G r.(?) p.(Met1?) Parent #1 - likely pathogenic (recessive) g.94586601T>C g.94121045T>C - - ABCA4_000264 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Germline yes - - - - DNA SEQ-NG - - retinal disease L-0496 PubMed: Cornelis 2024, Journal: Cornelis 2024 - M - France - - - - - 1 Frans Cremers
+?/. - c.1A>G r.(?) p.(Met1?) Parent #1 - likely pathogenic (recessive) g.94586601T>C g.94121045T>C - - ABCA4_000264 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Germline yes - - - - DNA SEQ-NG-I - - retinal disease L-0561 PubMed: Cornelis 2024, Journal: Cornelis 2024 - M - France - - - - - 1 Frans Cremers
+?/. - c.1A>G r.(?) p.(Met1?) Unknown - likely pathogenic (recessive) g.94586601T>C g.94121045T>C - - ABCA4_000264 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Germline/De novo (untested) - - - - - DNA SEQ - - retinal disease MEH-nonmild-425 PubMed: Cornelis 2024, Journal: Cornelis 2024 - M - United Kingdom (Great Britain) - - - - - 1 Stéphanie Cornelis
+/. 1 c.1A>G r.(?) p.(Met1?) Parent #1 ACMG pathogenic g.94586601T>C g.94121045T>C - - ABCA4_000264 - PubMed: Hitti-Malin 2024, Journal: Hitti-Malin 2024 - - Germline - - - - - DNA SEQ, SEQ-NG - smMIP-based 105 iMD/AMD genes macular dystrophy 072797 PubMed: Hitti-Malin 2024, Journal: Hitti-Malin 2024 - F - - - - - - - 1 Rebekkah Hitti-Malin
+/. 1 c.1A>G r.(?) p.(Met1?) Parent #1 ACMG pathogenic g.94586601T>C g.94121045T>C - - ABCA4_000264 - PubMed: Hitti-Malin 2024, Journal: Hitti-Malin 2024 - - Germline - - - - - DNA SEQ, SEQ-NG - smMIP-based 105 iMD/AMD genes macular dystrophy 074083 PubMed: Hitti-Malin 2024, Journal: Hitti-Malin 2024 - F - - - - - - - 1 Rebekkah Hitti-Malin
Legend   How to query  


Screenscraping/webscraping (downloading large amounts of data using scripts) is strictly prohibited.
Use our APIs to retrieve data.