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.

47 entries on 1 page. Showing entries 1 - 47.
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+?/. 29 c.4328G>A r.(?) p.(Arg1443His) Unknown - likely pathogenic g.94496008C>T g.94030452C>T R1443H - ABCA4_000148 - PubMed: Rivera 2000 - - Germline ? ExAC 3, 121360, 0, 0.00002472 - - - DNA DGGE, DHPLC, SSCA, PCR, SEQ - - STGD1 - PubMed: Rivera 2000 - ? ? Germany ? - - - - 1 Stéphanie Cornelis
?/. 29 c.4328G>A r.(?) p.(Arg1443His) Unknown - VUS g.94496008C>T g.94030452C>T R1443H - ABCA4_000148 - PubMed: Jaakson 2003 - - Germline - ExAC 3, 121360, 0, 0.00002472 - - - DNA PCR, PE, SEQ - APEX ? - PubMed: Jaakson 2003 Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome, possibly even in a previous study also present in the LOVD. ? ? - USA, Netherlands, Italy or Slovenia - - - - 1 Stéphanie Cornelis
+/. 29 c.4328G>A r.(?) p.(Arg1443His) Unknown - pathogenic g.94496008C>T g.94030452C>T R1443H† - ABCA4_000148 - PubMed: September 2004, PubMed: Roberts 2012 - - Germline - ExAC 3, 121360, 0, 0.00002472 - - - DNA PCR, SSCA, HD, PCRdig, SEQ - - STGD1 - PubMed: September 2004 - ? ? South Africa Asian-Indian - - - - 1 Stéphanie Cornelis
+/. 29 c.4328G>A r.(?) p.(Arg1443His) Unknown - pathogenic g.94496008C>T g.94030452C>T R1443H - ABCA4_000148 - PubMed: Simonelli 2005, PubMed: Testa 2012 - - Germline - ExAC 3, 121360, 0, 0.00002472 - - - DNA PE, PCR, SEQ - APEX STGD1 - PubMed: Simonelli 2005, PubMed: Testa 2012 - ? ? Italy ? - - - - 1 Stéphanie Cornelis
?/. 29 c.4328G>A r.(?) p.(Arg1443His) Unknown - VUS g.94496008C>T g.94030452C>T c.4328G>A - ABCA4_000148 - PubMed: Stenirri 2008 - - Germline - 3, 121360, 0, 0.00002472 - - - DNA PCR, PE, DHPLC, SEQ - APEX STGD1 - PubMed: Stenirri 2008 Mutations were described separately. Therefore, it is possible that additional mutations were found. ? ? Italy ? - - - - 1 Stéphanie Cornelis
+/. 29 c.4328G>A r.(?) p.(Arg1443His) Unknown - pathogenic g.94496008C>T g.94030452C>T c.4328G>A - ABCA4_000148 - PubMed: Zernant 2011 - - Germline - 3, 121360, 0, 0.00002472 - - - DNA PE, SEQ-NG, SEQ - APEX ? - PubMed: Zernant 2011 - ? ? - ? - - - - 1 Stéphanie Cornelis
+/. 29 c.4328G>A r.(?) p.(Arg1443His) Unknown - pathogenic g.94496008C>T g.94030452C>T R1443H - ABCA4_000148 - PubMed: Testa 2012 - - Germline - 3, 121360, 0, 0.00002472 - - - DNA PCR, SEQ - - STGD1 - PubMed: Testa 2012 - ? ? - ? - - - - 1 Stéphanie Cornelis
?/. 29 c.4328G>A r.(?) p.(Arg1443His) Unknown - VUS g.94496008C>T g.94030452C>T p.Arg1443His - ABCA4_000148 - PubMed: Fujinami 2013 - - Germline - 3, 121360, 0, 0.00002472 - - - DNA PCR, SEQ - - STGD1 - PubMed: Fujinami 2013 - ? ? - ? - - - - 1 Stéphanie Cornelis
+?/. 29 c.4328G>A r.(?) p.(Arg1443His) Unknown - likely pathogenic g.94496008C>T g.94030452C>T c.4328G>A; - ABCA4_000148 - PubMed: Chacón-Camacho 2013 - - Germline ? 3, 121360, 0, 0.00002472 - - - DNA PCR, SEQ - - STGD1 - PubMed: Chacón-Camacho 2013 - ? ? Mexico ? - - - - 1 Stéphanie Cornelis
+/. 29 c.4328G>A r.(?) p.(Arg1443His) Unknown - pathogenic g.94496008C>T g.94030452C>T c.4328G>A - ABCA4_000148 - PubMed: Fujinami 2013 - - Germline - 3, 121360, 0, 0.00002472 - - - DNA PE, PCR, SEQ, SEQ-NG-R - APEX ? - PubMed: Fujinami 2013 - ? ? United Kingdom (Great Britain) ? - - - - 1 Stéphanie Cornelis
+?/. 29 c.4328G>A r.(?) p.(Arg1443His) Parent #1 - likely pathogenic g.94496008C>T g.94030452C>T c.[1622T>C;4328G>A] - ABCA4_000148 - PubMed: Nõupuu 2014 - - Germline - - - - - DNA SEQ, SEQ-NG-I - - STGD1 - PubMed: Nõupuu 2014 - F ? - ? - - - - 1 Stéphanie Cornelis
+?/. 29 c.4328G>A r.(?) p.(Arg1443His) Parent #1 - likely pathogenic g.94496008C>T g.94030452C>T p.[L541P;R1443H] - ABCA4_000148 - PubMed: Duncker 2015 - - Germline ? - - - - DNA PE, SEQ, SEQ-NG-I - APEX ? - PubMed: Duncker 2015 - F ? - white - - - - 1 Stéphanie Cornelis
+/. 29 c.4328G>A r.(4328g>a) p.(Arg1443His) Parent #1 ACMG pathogenic (recessive) g.94496008C>T g.94030452C>T - - ABCA4_000148 variant significantly enriched in >3000 likely Caucasian STGD1 patients compared to the non-Finnish ExAC population PubMed: Cornelis 2017, Journal: Cornelis 2017, Journal: Cornelis 2023 - - SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.4328G>A r.(?) p.(Arg1443His) Unknown - pathogenic g.94496008C>T g.94030452C>T - - ABCA4_000148 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 - rs61750142 Germline - 1/1204 cases with retinitis pigmentosa - - - DNA SEQ-NG - - retinal disease - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 analysis 1204 retinitis pigmentosa cases - - Japan - - - - - 1 Yoshito Koyanagi
+/. - c.4328G>A r.(?) p.(Arg1443His) Unknown - pathogenic g.94496008C>T g.94030452C>T ABCA4(NM_000350.3):c.4328G>A (p.(Arg1443His)) - ABCA4_000148 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.4328G>A r.(?) p.(Arg1443His) Parent #1 - pathogenic (recessive) g.94496008C>T g.94030452C>T - - ABCA4_000148 - PubMed: Porto 2017 - - Germline - - - - - DNA SEQ-NG - 300-gene panel retinal disease Fam23PatFBP_61 PubMed: Porto 2017 proband - - Brazil - - - - - 1 LOVD
?/. 29 c.4328G>A r.(?) p.(Arg1443His) Unknown - VUS g.94496008C>T g.94030452C>T c.4328G>A p.(R1443H) - ABCA4_000148 no variant 2nd chromosome PubMed: Schulz 2017 - - Unknown - - - - - DNA arraySEQ, SEQ-NG - RetChip retinal disease Unknown 471 PubMed: Schulz 2017 191 F, 144 M in this study - ? Germany - - - - - 1 Stéphanie Cornelis
?/. 29 c.4328G>A r.(?) p.(Arg1443His) Parent #1 - VUS g.94496008C>T g.94030452C>T c.4328G>A c.1622T>C p.Leu541Pro p.Arg1443His - ABCA4_000148 - PubMed: Salles 2018 - - Unknown yes - - - - DNA SEQ-NG-I - - retinal disease 12 PubMed: Salles 2018 - M ? Brazil - - - - - 1 Stéphanie Cornelis
?/. 29 c.4328G>A r.(?) p.(Arg1443His) Unknown - VUS g.94496008C>T g.94030452C>T c.4328G>A p.(Arg1443His) - ABCA4_000148 no variant 2nd chromosome PubMed: Koyanagi 2019 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease Unknown 1269 PubMed: Koyanagi 2019 mutations were not reported per patient. - ? - Japan - - - - 1 Stéphanie Cornelis
?/. 29 c.4328G>A r.(?) p.(Arg1443His) Parent #1 - VUS g.94496008C>T g.94030452C>T c.[1622T>C;4328G>A] (p.[Leu541Pro;Arg1443His]) - ABCA4_000148 - PubMed: Zernant 2017 - - Unknown yes - - - - DNA SEQ-NG-I - - retinal disease 3494 PubMed: Zernant 2017 - - ? United States - - - - - 1 Stéphanie Cornelis
?/. 29 c.4328G>A r.(?) p.(Arg1443His) Parent #1 - VUS g.94496008C>T g.94030452C>T Arg1443His] - ABCA4_000148 - PubMed: Salles 2017 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease Fam A II 1 PubMed: Salles 2017 - M no Brazil - - - - - 1 Stéphanie Cornelis
?/. 29 c.4328G>A r.(?) p.(Arg1443His) Parent #1 - VUS g.94496008C>T g.94030452C>T Arg1443His] - ABCA4_000148 - PubMed: Salles 2017 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease Fam B II 1 PubMed: Salles 2017 - F no Brazil - - - - - 1 Stéphanie Cornelis
?/. 29 c.4328G>A r.(?) p.(Arg1443His) Parent #1 - VUS g.94496008C>T g.94030452C>T Arg1443His] - ABCA4_000148 - PubMed: Salles 2017 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease Fam C III 1 PubMed: Salles 2017 - M no Brazil - - - - - 1 Stéphanie Cornelis
?/. 29 c.4328G>A r.(?) p.(Arg1443His) Both (homozygous) - VUS g.94496008C>T g.94030452C>T Arg1443His] - ABCA4_000148 - PubMed: Salles 2017PubMed: Salles 2018 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease Fam D II 1; 40 PubMed: Salles 2017PubMed: Salles 2018 - M yes Brazil - - - - - 1 Stéphanie Cornelis
?/. 29 c.4328G>A r.(?) p.(Arg1443His) Both (homozygous) - VUS g.94496008C>T g.94030452C>T p.[Leu541Pro;Arg1443His] - ABCA4_000148 - PubMed: Salles 2017PubMed: Salles 2018 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease Fam D II 1; 40 PubMed: Salles 2017PubMed: Salles 2018 - M yes Brazil - - - - - 1 Stéphanie Cornelis
?/. 29 c.4328G>A r.(?) p.(Arg1443His) Parent #2 - VUS g.94496008C>T g.94030452C>T p.[Leu541Pro;Arg1443His] - ABCA4_000148 - PubMed: Salles 2017 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease Fam M II 1 PubMed: Salles 2017 - M no Brazil - - - - - 1 Stéphanie Cornelis
?/. 29 c.4328G>A r.(?) p.(Arg1443His) Unknown - VUS g.94496008C>T g.94030452C>T c.4328G>A,p.Arg1443His - ABCA4_000148 - PubMed: Fujinami 2019 - - Unknown - - - - - DNA SEQ-NG - SEQ-NG (143 cases), APEX (44 cases), SSCP (24 cases), SEQ (134) retinal disease 14006 PubMed: Fujinami 2019 191 F, 154 M in this study - ? United Kingdom (Great Britain) - - - - - 1 Stéphanie Cornelis
?/. 29 c.4328G>A r.(?) p.(Arg1443His) Unknown - VUS g.94496008C>T g.94030452C>T c.4328G>A,p.Arg1443His - ABCA4_000148 - PubMed: Fujinami 2019 - - Unknown - - - - - DNA SEQ-NG - SEQ-NG (143 cases), APEX (44 cases), SSCP (24 cases), SEQ (134) retinal disease 15092 PubMed: Fujinami 2019 191 F, 154 M in this study - ? Germany - - - - - 1 Stéphanie Cornelis
?/. 29 c.4328G>A r.(?) p.(Arg1443His) Parent #1 - VUS g.94496008C>T g.94030452C>T c.1622T>C c.4328G>A p.Leu541Pro p.Arg1443His - ABCA4_000148 - PubMed: Salles 2018 - - Unknown yes - - - - DNA SEQ-NG-I - - retinal disease 23 PubMed: Salles 2018 - F ? Brazil - - - - - 1 Stéphanie Cornelis
?/. 29 c.4328G>A r.(?) p.(Arg1443His) Parent #1 - VUS g.94496008C>T g.94030452C>T c.1622T>C c.4328G>A p.Leu541Pro p.Arg1443His - ABCA4_000148 - PubMed: Salles 2018 - - Unknown yes - - - - DNA SEQ-NG-I - - retinal disease 31 PubMed: Salles 2018 - M ? Brazil - - - - - 1 Stéphanie Cornelis
?/. 29 c.4328G>A r.(?) p.(Arg1443His) Unknown - VUS g.94496008C>T g.94030452C>T c.4328G.A; p.R1443H - ABCA4_000148 - PubMed: Khan 2019 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease 21 PubMed: Khan 2019 - M ? United Arab Emirates United Arab Emirates - - - - 1 Stéphanie Cornelis
?/. 29 c.4328G>A r.(?) p.(Arg1443His) Unknown - VUS g.94496008C>T g.94030452C>T c.4328G>A / p.(Arg1443His) - ABCA4_000148 - PubMed: Müller 2020PubMed: Gliem 2020 - - Unknown - - - - - DNA MLPA, SEQ - MLPA and SEQ or SEQ-NG retinal disease 18; 45 PubMed: Müller 2020PubMed: Gliem 2020 - M ? Germany - - - - - 1 Stéphanie Cornelis
?/. 29 c.4328G>A r.(?) p.(Arg1443His) Unknown - VUS g.94496008C>T g.94030452C>T c.4328G>A, p.Arg1443His Heterozygous - ABCA4_000148 - PubMed: Goetz 2020 - - Unknown - 3, 121360, 0, 0.00002472 - - - DNA SEQ-NG-I - solid state SBS retinal disease 3751-4570 PubMed: Goetz 2020 - - ? - - - - - - 1 Stéphanie Cornelis
+?/. 29 c.4328G>A r.(?) p.(Arg1443His) Unknown - likely pathogenic g.94496008C>T - c.4328G>A - ABCA4_000148 - PubMed: Maggi_2021 - - Germline - - - - - DNA SEQ - - retinal disease - PubMed: Maggi_2021 - M - Switzerland - - - - - 1 LOVD
+?/. 22 c.4328G>A r.(?) p.(Arg1443His) Unknown ACMG pathogenic (recessive) g.94496008C>T - - - ABCA4_000148 - Bianco 2023, submitted - - Germline yes - - - - DNA SEQ-NG-I Peripheral Blood Sample - STGD1 601691#8 Bianco 2023, submitted - M no Italy - - - - - 1 Lorenzo Bianco
+?/. 29 c.4328G>A r.(?) p.(Arg1443His) Maternal (confirmed) ACMG pathogenic (recessive) g.94496008C>T - c.[1622T>C;4328G>A], p.[(Leu541Pro;Arg1443His)] - ABCA4_000148 Complex allele Bianco 2023, submitted - - Germline yes - - - - DNA SEQ-NG-I Peripheral Blood Sample - STGD1 601691#43 Bianco 2023, submitted - F no Italy - - - - - 1 Lorenzo Bianco
+/. - c.4328G>A r.(?) p.(Arg1443His) Parent #1 - pathogenic (recessive) g.94496008C>T g.94030452C>T - - ABCA4_000148 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Germline yes - - - - DNA SEQ-NG - - retinal disease L-0104 PubMed: Cornelis 2024, Journal: Cornelis 2024 - F - France - - - - - 1 Frans Cremers
+/. - c.4328G>A r.(?) p.(Arg1443His) Parent #1 - pathogenic (recessive) g.94496008C>T g.94030452C>T - - ABCA4_000148 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Germline yes - - - - DNA SEQ-NG - - retinal disease L-0150 PubMed: Cornelis 2024, Journal: Cornelis 2024 - M - France - - - - - 1 Frans Cremers
+/. - c.4328G>A r.(?) p.(Arg1443His) Unknown - pathogenic (recessive) g.94496008C>T g.94030452C>T - - ABCA4_000148 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Unknown - - - - - DNA SEQ-NG - - retinal disease L-0384 PubMed: Cornelis 2024, Journal: Cornelis 2024 - M - France - - - - - 1 Frans Cremers
+/. - c.4328G>A r.(?) p.(Arg1443His) Unknown - pathogenic (recessive) g.94496008C>T g.94030452C>T - - ABCA4_000148 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Unknown - - - - - DNA SEQ-NG - - retinal disease L-0417 PubMed: Cornelis 2024, Journal: Cornelis 2024 - F - France - - - - - 1 Frans Cremers
+/. - c.4328G>A r.(?) p.(Arg1443His) Unknown - pathogenic (recessive) g.94496008C>T g.94030452C>T - - ABCA4_000148 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease L-0550 PubMed: Cornelis 2024, Journal: Cornelis 2024 - F - France - - - - - 1 Frans Cremers
+/. - c.4328G>A r.(?) p.(Arg1443His) Unknown - pathogenic (recessive) g.94496008C>T g.94030452C>T - - ABCA4_000148 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Germline/De novo (untested) - - - - - DNA SEQ - - retinal disease MEH-nonmild-139 PubMed: Cornelis 2024, Journal: Cornelis 2024 family, 2 affected M - United Kingdom (Great Britain) - - - - - 2 Stéphanie Cornelis
+/. - c.4328G>A r.(?) p.(Arg1443His) Unknown - pathogenic (recessive) g.94496008C>T g.94030452C>T - - ABCA4_000148 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Germline/De novo (untested) - - - - - DNA SEQ - - retinal disease MEH-other-38 PubMed: Cornelis 2024, Journal: Cornelis 2024 relative of MEH-nonmild-139 M - United Kingdom (Great Britain) - - - - - 1 Stéphanie Cornelis
+/. - c.4328G>A r.(?) p.(Arg1443His) Unknown - pathogenic (recessive) g.94496008C>T g.94030452C>T - - ABCA4_000148 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Germline/De novo (untested) - - - - - DNA SEQ - - retinal disease MEH-nonmild-334 PubMed: Cornelis 2024, Journal: Cornelis 2024 - F - United Kingdom (Great Britain) - - - - - 1 Stéphanie Cornelis
+/. - c.4328G>A r.(?) p.(Arg1443His) Unknown - pathogenic (recessive) g.94496008C>T g.94030452C>T - - ABCA4_000148 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Germline/De novo (untested) - - - - - DNA SEQ - - retinal disease MEH-nonmild-347 PubMed: Cornelis 2024, Journal: Cornelis 2024 - F - United Kingdom (Great Britain) - - - - - 1 Stéphanie Cornelis
+/. - c.4328G>A r.(?) p.(Arg1443His) Unknown - pathogenic g.94496008C>T - ABCA4(NM_000350.3):c.4328G>A (p.(Arg1443His)) - ABCA4_000148 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 29 c.4328G>A r.(?) p.(Arg1443His) Parent #1 ACMG pathogenic g.94496008C>T g.94030452C>T - - ABCA4_000148 - PubMed: Hitti-Malin 2024, Journal: Hitti-Malin 2024 - - Germline - - - - - DNA SEQ, SEQ-NG - smMIP-based 105 iMD/AMD genes macular dystrophy 073550 PubMed: Hitti-Malin 2024, Journal: Hitti-Malin 2024 - F - - - - - - - 1 Rebekkah Hitti-Malin
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