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.

43 entries on 1 page. Showing entries 1 - 43.
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Effect     

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AscendingDNA change (cDNA)     

RNA change     

Protein     

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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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Methylation     

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Technique     

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Disease     

ID_report     

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?/. 27 c.3899G>A r.(?) p.(Arg1300Gln) Unknown - VUS g.94497563C>T g.94032007C>T - - ABCA4_000090 - PubMed: Zernant 2014 - - Germline - - - - - DNA SEQ-NG-I - - STGD1 - PubMed: Zernant 2014 - - - United States African American - - - - 1 Jana Zernant
?/. 27 c.3899G>A r.(?) p.(Arg1300Gln) Unknown - VUS g.94497563C>T g.94032007C>T - - ABCA4_000090 - PubMed: Zernant 2014 - - Germline - - - - - DNA SEQ-NG-I - - STGD1 - PubMed: Zernant 2014 - - - United States African American - - - - 1 Jana Zernant
?/. 27 c.3899G>A r.(?) p.(Arg1300Gln) Unknown - VUS g.94497563C>T g.94032007C>T - - ABCA4_000090 - PubMed: Zernant 2014 - - Germline - - - - - DNA SEQ-NG-I - - STGD1 - PubMed: Zernant 2014 - - - United States African American - - - - 1 Jana Zernant
?/. 27 c.3899G>A r.(?) p.(Arg1300Gln) Unknown - VUS g.94497563C>T g.94032007C>T - - ABCA4_000090 - PubMed: Zernant 2014 - - Germline - - - - - DNA SEQ-NG-I - - STGD1 - PubMed: Zernant 2014 - - - United States African American - - - - 1 Jana Zernant
?/. 27 c.3899G>A r.(?) p.(Arg1300Gln) Unknown - VUS g.94497563C>T g.94032007C>T - - ABCA4_000090 - PubMed: Zernant 2014 - - Germline - - - - - DNA SEQ-NG-I - - CORD3 - PubMed: Zernant 2014 - - - United States African American - - - - 1 Jana Zernant
?/. 27 c.3899G>A r.(?) p.(Arg1300Gln) Paternal (confirmed) - VUS g.94497563C>T g.94032007C>T - - ABCA4_000090 - PubMed: Bauwens 2014 - - Germline - ExAC 0.00638 - - - DNA SEQ-NG-I - - STGD - PubMed: Bauwens 2014 - F no - Arab - - - - 1 Miriam Bauwens
-?/. 27 c.3899G>A r.(?) p.(Arg1300Gln) Unknown - likely benign g.94497563C>T g.94032007C>T - - ABCA4_000090 Benign PubMed: Alapati 2014 - - Germline - ExAC 757, 118654, 27, 0.00638 - - - DNA PE, PCR, SEQ - APEX CORD - PubMed: Alapati 2014 - ? ? United States American - - - - 1 Stéphanie Cornelis
+?/. 27 c.3899G>A r.(?) p.(Arg1300Gln) Maternal (confirmed) - likely pathogenic g.94497563C>T g.94032007C>T [832delT; CGA > CAA] - ABCA4_000090 - PubMed: Briggs 2001 - - Germline - - - - - DNA SSCA, SEQ - - STGD1 - PubMed: Briggs 2001 2-generation family, 1 affected F ? - ? - - - - 1 Stéphanie Cornelis
?/. 27 c.3899G>A r.(?) p.(Arg1300Gln) Unknown - VUS g.94497563C>T g.94032007C>T CGA > CAA - ABCA4_000090 - PubMed: Briggs 2001 - - Germline - ExAC 757, 118654, 27, 0.00638 - - - DNA SSCA, SEQ - - STGD1 - PubMed: Briggs 2001 - ? ? - ? - - - - 1 Stéphanie Cornelis
?/. 27 c.3899G>A r.(?) p.(Arg1300Gln) Unknown - VUS g.94497563C>T g.94032007C>T c.3899G>A - ABCA4_000090 - PubMed: Ernest 2009 - - Germline - 757, 118654, 27, 0.00638 - - - DNA PE, DGGE, SEQ - APEX ? - PubMed: Ernest 2009 Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome. ? ? - ? - - - - 1 Stéphanie Cornelis
?/. 27 c.3899G>A r.(?) p.(Arg1300Gln) Unknown - VUS g.94497563C>T g.94032007C>T c.3899G>A, p.Arg1300Gln - ABCA4_000090 - PubMed: Roberts 2012 - - Germline - 757, 118654, 27, 0.00638 - - - DNA PE - APEX ? - PubMed: Roberts 2012 cohort of 73% Stargardt disease, 16% Retinitis pigmentosa, 11% macular dystrophy; variants described separately, additional variant may be present; 9 homozygote, 90 presumed compound heterozygotes (41 verified biallelic, family studies) ? ? South Africa In this cohort: 84% white, 9% African, 4% Indian, 3% mixed ancestry - - - - 1 Stéphanie Cornelis
?/. 27 c.3899G>A r.(?) p.(Arg1300Gln) Unknown - VUS g.94497563C>T g.94032007C>T c.3899G>A, p.Arg1300Gln - ABCA4_000090 - PubMed: Roberts 2012 - - Germline - 757, 118654, 27, 0.00638 - - - DNA PE - APEX ? - PubMed: Roberts 2012 cohort of 73% Stargardt disease, 16% Retinitis pigmentosa, 11% macular dystrophy; variants described separately, additional variant may be present; 9 homozygote, 90 presumed compound heterozygotes (41 verified biallelic, family studies) ? ? South Africa In this cohort: 84% white, 9% African, 4% Indian, 3% mixed ancestry - - - - 1 Stéphanie Cornelis
?/. 27 c.3899G>A r.(?) p.(Arg1300Gln) Unknown - VUS g.94497563C>T g.94032007C>T c.3899G>A, p.Arg1300Gln - ABCA4_000090 - PubMed: Roberts 2012 - - Germline - 757, 118654, 27, 0.00638 - - - DNA PE - APEX ? - PubMed: Roberts 2012 cohort of 73% Stargardt disease, 16% Retinitis pigmentosa, 11% macular dystrophy; variants described separately, additional variant may be present; 9 homozygote, 90 presumed compound heterozygotes (41 verified biallelic, family studies) ? ? South Africa In this cohort: 84% white, 9% African, 4% Indian, 3% mixed ancestry - - - - 1 Stéphanie Cornelis
?/. 27 c.3899G>A r.(?) p.(Arg1300Gln) Unknown - VUS g.94497563C>T g.94032007C>T c.3899G>A, p.Arg1300Gln - ABCA4_000090 - PubMed: Roberts 2012 - - Germline - 757, 118654, 27, 0.00638 - - - DNA PE - APEX ? - PubMed: Roberts 2012 cohort of 73% Stargardt disease, 16% Retinitis pigmentosa, 11% macular dystrophy; variants described separately, additional variant may be present; 9 homozygote, 90 presumed compound heterozygotes (41 verified biallelic, family studies) ? ? South Africa In this cohort: 84% white, 9% African, 4% Indian, 3% mixed ancestry - - - - 1 Stéphanie Cornelis
-?/. 27 c.3899G>A r.(3899g>a) p.(Arg1300Gln) Parent #1 ACMG likely benign g.94497563C>T g.94032007C>T - - ABCA4_000090 - PubMed: Cornelis 2017, Journal: Cornelis 2017, Journal: Cornelis 2023 - - SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.3899G>A r.(?) p.(Arg1300Gln) Unknown - benign g.94497563C>T g.94032007C>T - - ABCA4_000090 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. 27 c.3899G>A r.(?) p.(Arg1300Gln) Unknown - benign g.94497563C>T g.94032007C>T - - ABCA4_000090 - PubMed: Khan 2019 - - Unknown no - - - - DNA SEQ, MIPsm - - STGD1 ? PubMed: Khan 2019 - - - France - - - - - 1 Stéphanie Cornelis
-/. 27 c.3899G>A r.(?) p.(Arg1300Gln) Parent #1 - benign g.94497563C>T g.94032007C>T - - ABCA4_000090 unknown variant 2nd allele PubMed: Khan 2019 - - Unknown no - - - - DNA SEQ, MIPsm - - STGD1 ? PubMed: Khan 2019 - - - France - - - - - 1 Stéphanie Cornelis
+?/. - c.3899G>A r.(?) p.(Arg1300Gln) Parent #1 - likely pathogenic (recessive) g.94497563C>T g.94032007C>T - - ABCA4_000090 - PubMed: Holtan 2020 - - Germline - 1/899 cases - - - DNA SEQ - - retinal disease - PubMed: Holtan 2020 1 patient with variant in heterozygous or compound heterozygous form - - Norway - - - - - 1 Global Variome, with Curator vacancy
+?/. - c.3899G>A r.(?) p.(Arg1300Gln) Unknown - likely pathogenic g.94497563C>T - 1:94497563C>T ENST00000370225.3:c.3899G>A (Arg1300Gln) - ABCA4_000090 - PubMed: Carss 2017 - - Germline - - - - - DNA SEQ-NG - WGS retinal disease G008144 PubMed: Carss 2017 - F - United Kingdom (Great Britain) Africa - - - - 1 LOVD
-/. 27 c.3899G>A r.(?) p.(Arg1300Gln) Unknown - benign g.94497563C>T g.94032007C>T R1300Q - ABCA4_000090 - PubMed: Aleman 2007 - - Unknown - - - - - DNA ? - - retinal disease 15 PubMed: Aleman 2007 - F ? United States - - - - - 1 Stéphanie Cornelis
-/. 27 c.3899G>A r.(?) p.(Arg1300Gln) Both (homozygous) - benign g.94497563C>T g.94032007C>T R1300Q - ABCA4_000090 no segregation analysis done PubMed: Roberts 2009 - - Unknown - - - - - DNA PE, SEQ - APEX retinal disease RPS263 PubMed: Roberts 2009 - M yes South Africa - - - - - 1 Stéphanie Cornelis
-/. 27 c.3899G>A r.(?) p.(Arg1300Gln) Unknown - benign g.94497563C>T g.94032007C>T c.3899G>A (p.R1300Q) - ABCA4_000090 no variant 2nd chromosome PubMed: Utz 2013 - - Unknown - - - - - DNA PE, SEQ - APEX retinal disease 4 PubMed: Utz 2013 - - ? United States African American - - - - 1 Stéphanie Cornelis
-/. 27 c.3899G>A r.(?) p.(Arg1300Gln) Unknown - benign g.94497563C>T g.94032007C>T c.3899G>A (p.R1300Q) - ABCA4_000090 - PubMed: Utz 2013 - - Unknown - - - - - DNA PE, SEQ - APEX retinal disease 5 PubMed: Utz 2013 - - ? United States African American - - - - 1 Stéphanie Cornelis
-/. 27 c.3899G>A r.(?) p.(Arg1300Gln) Unknown - benign g.94497563C>T g.94032007C>T c.3899G>A (p.R1300Q) - ABCA4_000090 - PubMed: Utz 2013 - - Unknown - - - - - DNA PE, SEQ - APEX retinal disease 6 PubMed: Utz 2013 - - ? United States African American - - - - 1 Stéphanie Cornelis
-/. 27 c.3899G>A r.(?) p.(Arg1300Gln) Parent #1 - benign g.94497563C>T g.94032007C>T c.3899G>A - ABCA4_000090 - PubMed: Parker 2016 - - Unknown - - - - - DNA ? - - retinal disease 14 PubMed: Parker 2016 - - ? - - - - - - 1 Stéphanie Cornelis
-/. 27 c.3899G>A r.(?) p.(Arg1300Gln) Unknown - benign g.94497563C>T g.94032007C>T c.3899G>A,p.Arg1300Gln - ABCA4_000090 - PubMed: Fujinami 2019 - - Unknown - - - - - DNA SEQ-NG - SEQ-NG (143 cases), APEX (44 cases), SSCP (24 cases), SEQ (134) retinal disease 13015 PubMed: Fujinami 2019 191 F, 154 M in this study - ? France - - - - - 1 Stéphanie Cornelis
-/. 27 c.3899G>A r.(?) p.(Arg1300Gln) Unknown - benign g.94497563C>T g.94032007C>T c.3899G>A p.(Arg1300Gln) - ABCA4_000090 no variant 2nd chromosome; no segregation analysis done PubMed: Khan 2019 - - Unknown - - - - - DNA SEQ-NG, MIPsm - smMIPs of exons and few intronic regions retinal disease 67314 PubMed: Khan 2019 - - ? France - - - - - 1 Stéphanie Cornelis
-/. 27 c.3899G>A r.(?) p.(Arg1300Gln) Unknown - benign g.94497563C>T g.94032007C>T c.3899 G>A - ABCA4_000090 no variant 2nd chromosome PubMed: Holtan 2019 - - Unknown - - - - - DNA PE - APEX retinal disease Unknown 694 PubMed: Holtan 2019 - - ? Norway - - - - - 1 Stéphanie Cornelis
-/. 27 c.3899G>A r.(?) p.(Arg1300Gln) Unknown - benign g.94497563C>T g.94032007C>T c.3899G>A p.(Arg1300Gln) - ABCA4_000090 - PubMed: Del Pozo-Valero 2020 - - Germline - - - - - DNA SEQ-NG - - retinal disease MD-0323 PubMed: Del Pozo-Valero 2020 - - ? Spain - - - - - 1 Stéphanie Cornelis
-/. 27 c.3899G>A r.(?) p.(Arg1300Gln) Unknown - benign g.94497563C>T g.94032007C>T c.3899G>A, p.Arg1300Gln Heterozygous - ABCA4_000090 - PubMed: Goetz 2020 - - Unknown - 757, 118654, 27, 0.00638 - - - DNA SEQ-NG-I - solid state SBS retinal disease 2754-4329 PubMed: Goetz 2020 - - ? - - - - - - 1 Stéphanie Cornelis
-/. 27 c.3899G>A r.(?) p.(Arg1300Gln) Unknown - benign g.94497563C>T g.94032007C>T c.3899G>A, p.Arg1300Gln Heterozygous - ABCA4_000090 - PubMed: Goetz 2020 - - Unknown - 757, 118654, 27, 0.00638 - - - DNA SEQ-NG-I - solid state SBS retinal disease 3170-3905 PubMed: Goetz 2020 - - ? - - - - - - 1 Stéphanie Cornelis
-/. 27 c.3899G>A r.(?) p.(Arg1300Gln) Unknown - benign g.94497563C>T g.94032007C>T R1300Q - ABCA4_000090 - PubMed: Aleman 2007 - - Unknown - - - - - DNA ? - - retinal disease 11 PubMed: Aleman 2007 - F ? United States - - - - - 1 Stéphanie Cornelis
-/. 27 c.3899G>A r.(?) p.(Arg1300Gln) Unknown - benign g.94497563C>T g.94032007C>T p.Arg1300Gls c3899G>A - ABCA4_000090 - PubMed: Sisk 2014 - - Unknown - - - - - DNA SEQ-NG - - retinal disease 2 PubMed: Sisk 2014 - M ? United States - - - - - 1 Stéphanie Cornelis
-/. 27 c.3899G>A r.(?) p.(Arg1300Gln) Unknown - benign g.94497563C>T g.94032007C>T c.3899G>A,p.Arg1300Gln - ABCA4_000090 - PubMed: Fujinami 2019 - - Unknown - - - - - DNA SEQ-NG - SEQ-NG (143 cases), APEX (44 cases), SSCP (24 cases), SEQ (134) retinal disease 12037 PubMed: Fujinami 2019 191 F, 154 M in this study - ? United States - - - - - 1 Stéphanie Cornelis
-/. 27 c.3899G>A r.(?) p.(Arg1300Gln) Unknown - benign g.94497563C>T g.94032007C>T c.3899G>A p.(Arg1300Gln) - ABCA4_000090 no segregation analysis done PubMed: Nassisi 2018 - - Unknown - - - - - DNA PE, SEQ - APEX retinal disease CIC07831 PubMed: Nassisi 2018 - - ? France - - - - - 1 Stéphanie Cornelis
-/. 27 c.3899G>A r.(?) p.(Arg1300Gln) Parent #1 - benign g.94497563C>T g.94032007C>T c.[2971G>C;3899G>A] p.[Gly991Arg;Arg1300Gln] - ABCA4_000090 - PubMed: Del Pozo-Valero 2020 - - Germline - - - - - DNA SEQ-NG - - retinal disease MD-0768 PubMed: Del Pozo-Valero 2020 - - ? Spain - - - - - 1 Stéphanie Cornelis
-/. 27 c.3899G>A r.(?) p.(Arg1300Gln) Unknown - benign g.94497563C>T g.94032007C>T ENST00000370225.3:c.3899G>A p.Arg1300Gln 0/1 - ABCA4_000090 - PubMed: Carss 2017 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease G008144 PubMed: Carss 2017 - F ? England Africa - - - - 1 Stéphanie Cornelis
-/. 27 c.3899G>A r.(?) p.(Arg1300Gln) Unknown - benign g.94497563C>T g.94032007C>T c.3899G>A, p.Arg1300Gln Heterozygous - ABCA4_000090 - PubMed: Goetz 2020 - - Unknown - 757, 118654, 27, 0.00638 - - - DNA SEQ-NG-I - solid state SBS retinal disease 1392-1928 PubMed: Goetz 2020 - - ? - - - - - - 1 Stéphanie Cornelis
-/. 27 c.3899G>A r.(?) p.(Arg1300Gln) Unknown - benign g.94497563C>T g.94032007C>T c.3899G>A, p.Arg1300Gln Heterozygous - ABCA4_000090 - PubMed: Goetz 2020 - - Unknown - 757, 118654, 27, 0.00638 - - - DNA SEQ-NG-I - solid state SBS retinal disease 3446-4229 PubMed: Goetz 2020 - - ? - - - - - - 1 Stéphanie Cornelis
-/. 27 c.3899G>A r.(?) p.(Arg1300Gln) Unknown - benign g.94497563C>T g.94032007C>T c.3899G>A, p.(Arg1300Gln) Heterozygous - ABCA4_000090 - PubMed: Goetz 2020 - - Unknown - 757, 118654, 27, 0.00638 - - - DNA SEQ - - retinal disease 3499-5163 PubMed: Goetz 2020 - - ? - - - - - - 1 Stéphanie Cornelis
-/. 27 c.3899G>A r.(?) p.(Arg1300Gln) Unknown - benign g.94497563C>T g.94032007C>T c.3899G>A, p.Arg1300Gln Heterozygous - ABCA4_000090 - PubMed: Goetz 2020 - - Unknown - 757, 118654, 27, 0.00638 - - - DNA SEQ-NG-I - solid state SBS retinal disease 3618-5295 PubMed: Goetz 2020 - - ? - - - - - - 1 Stéphanie Cornelis
-/. 27 c.3899G>A r.(?) p.(Arg1300Gln) Unknown - benign g.94497563C>T g.94032007C>T c.3899G>A, p.(Arg1300Gln) Heterozygous - ABCA4_000090 - PubMed: Goetz 2020 - - Unknown - 757, 118654, 27, 0.00638 - - - DNA SEQ - - retinal disease 4740-5783 PubMed: Goetz 2020 - - ? - - - - - - 1 Stéphanie Cornelis
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