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.

42 entries on 1 page. Showing entries 1 - 42.
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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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ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

Frequency     

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Methylation     

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Technique     

Tissue     

Remarks     

Disease     

ID_report     

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+/. 45 c.6179T>G r.(?) p.(Leu2060Arg) Unknown - pathogenic g.94467517A>C g.94001961A>C c.6179T>G - ABCA4_000786 - PubMed: Paloma 2001 - - Germline ? - - - - DNA PCR, SSCA, SEQ - - CORD - PubMed: Paloma 2001 - ? ? Spain ? - - - - 1 Stéphanie Cornelis
+/. 45 c.6179T>G r.(?) p.(Leu2060Arg) Unknown - pathogenic g.94467517A>C g.94001961A>C c.6179T>G - ABCA4_000786 - PubMed: Paloma 2001 - - Germline ? - - - - DNA PCR, SSCA, SEQ - - CORD - PubMed: Paloma 2001 - ? ? Spain ? - - - - 1 Stéphanie Cornelis
+/. 45 c.6179T>G r.(?) p.(Leu2060Arg) Unknown - pathogenic g.94467517A>C g.94001961A>C 6179T>G - ABCA4_000786 - PubMed: Valverde 2007, PubMed: Riveiro-Alvarez 2013 - - Germline yes - - - - DNA PCR, PE, SEQ, DHPLC - APEX ? - PubMed: Valverde 2007, PubMed: Riveiro-Alvarez 2013 - ? ? Spain - - - - - 1 Stéphanie Cornelis
?/. 45 c.6179T>G r.(?) p.(Leu2060Arg) Unknown - VUS g.94467517A>C g.94001961A>C c.6179T>G - ABCA4_000786 - PubMed: Riveiro-Alvarez 2013 - - Germline - - - - - DNA PE, DHPLC, MCA, SEQ, MLPA, SEQ-NG - APEX CORD - PubMed: Riveiro-Alvarez 2013 - ? ? Spain ? - - - - 1 Stéphanie Cornelis
+?/. 45 c.6179T>G r.(?) p.(Leu2060Arg) Unknown - likely pathogenic g.94467517A>C g.94001961A>C c.6179T>G - ABCA4_000786 - PubMed: Riveiro-Alvarez 2013 - - Germline ? - - - - DNA PE, DHPLC, MCA, SEQ, MLPA, SEQ-NG - APEX CORD - PubMed: Riveiro-Alvarez 2013 - ? ? Spain ? - - - - 1 Stéphanie Cornelis
+?/. 45 c.6179T>G r.(?) p.(Leu2060Arg) Unknown - likely pathogenic g.94467517A>C g.94001961A>C c.6179T>G - ABCA4_000786 - PubMed: Riveiro-Alvarez 2013 - - Germline ? - - - - DNA PE, DHPLC, MCA, SEQ, MLPA, SEQ-NG - APEX STGD1 - PubMed: Riveiro-Alvarez 2013 - ? ? Spain ? - - - - 1 Stéphanie Cornelis
+/. 45 c.6179T>G r.(?) p.(Leu2060Arg) Unknown - pathogenic g.94467517A>C g.94001961A>C c.6179T>G - ABCA4_000786 - PubMed: Riveiro-Alvarez 2013 - - Germline ? - - - - DNA PE, DHPLC, MCA, SEQ, MLPA, SEQ-NG - APEX STGD1 - PubMed: Riveiro-Alvarez 2013 - ? ? Spain ? - - - - 1 Stéphanie Cornelis
+?/. 45 c.6179T>G r.(?) p.(Leu2060Arg) Unknown - likely pathogenic g.94467517A>C g.94001961A>C c.6179T>G - ABCA4_000786 - PubMed: Riveiro-Alvarez 2013 - - Germline ? - - - - DNA PE, DHPLC, MCA, SEQ, MLPA, SEQ-NG - APEX STGD1 - PubMed: Riveiro-Alvarez 2013 - ? ? Spain ? - - - - 1 Stéphanie Cornelis
+/. 45 c.6179T>G r.(?) p.(Leu2060Arg) Unknown - pathogenic g.94467517A>C g.94001961A>C c.6179T>G - ABCA4_000786 - PubMed: Riveiro-Alvarez 2013 - - Germline ? - - - - DNA PE, DHPLC, MCA, SEQ, MLPA, SEQ-NG - APEX STGD1 - PubMed: Riveiro-Alvarez 2013 - ? ? Spain ? - - - - 1 Stéphanie Cornelis
+?/. 45 c.6179T>G r.(?) p.(Leu2060Arg) Unknown - likely pathogenic g.94467517A>C g.94001961A>C c.6179T>G - ABCA4_000786 - PubMed: Riveiro-Alvarez 2013 - - Germline ? - - - - DNA PE, DHPLC, MCA, SEQ, MLPA, SEQ-NG - APEX STGD1 - PubMed: Riveiro-Alvarez 2013 - ? ? Spain ? - - - - 1 Stéphanie Cornelis
+?/. 45 c.6179T>G r.(?) p.(Leu2060Arg) Unknown - likely pathogenic g.94467517A>C g.94001961A>C c.6179T>G - ABCA4_000786 - PubMed: Riveiro-Alvarez 2013 - - Germline ? - - - - DNA PE, DHPLC, MCA, SEQ, MLPA, SEQ-NG - APEX STGD1 - PubMed: Riveiro-Alvarez 2013 - ? ? Spain ? - - - - 1 Stéphanie Cornelis
+/. 45 c.6179T>G r.(6179u>g) p.(Leu2060Arg) Parent #1 ACMG pathogenic (recessive) g.94467517A>C g.94001961A>C - - ABCA4_000786 - PubMed: Cornelis 2017, Journal: Cornelis 2017, Journal: Cornelis 2023 - - SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.6179T>G r.(?) p.(Leu2060Arg) Parent #1 ACMG pathogenic (recessive) g.94467517A>C g.94001961A>C c.T6179G - ABCA4_000786 - PubMed: Zhang 2016 - - Germline - - - - - DNA SEQ-NG - 226-gene panel retinal disease BLM029 PubMed: Zhang 2016 family M - United States Hispanic - - - - 1 LOVD
+?/. 45 c.6179T>G r.(?) p.(Leu2060Arg) Unknown - likely pathogenic (recessive) g.94467517A>C g.94001961A>C Leu2060Arg - ABCA4_000786 no variant 2nd chromosome PubMed: Riveiro-Alvarez 2008 - - Unknown - - - - - DNA PE, SEQ - APEX retinal disease Unknown 176 PubMed: Riveiro-Alvarez 2008 - - ? Spain - - - - - 1 Stéphanie Cornelis
+?/. 45 c.6179T>G r.(?) p.(Leu2060Arg) Unknown - likely pathogenic (recessive) g.94467517A>C g.94001961A>C Leu2060Arg - ABCA4_000786 no variant 2nd chromosome PubMed: Riveiro-Alvarez 2008 - - Unknown - - - - - DNA PE, SEQ - APEX retinal disease Unknown 177 PubMed: Riveiro-Alvarez 2008 - - ? Spain - - - - - 1 Stéphanie Cornelis
+?/. 45 c.6179T>G r.(?) p.(Leu2060Arg) Unknown - likely pathogenic (recessive) g.94467517A>C g.94001961A>C Leu2060Arg - ABCA4_000786 no variant 2nd chromosome PubMed: Riveiro-Alvarez 2008 - - Unknown - - - - - DNA PE, SEQ - APEX retinal disease Unknown 178 PubMed: Riveiro-Alvarez 2008 - - ? Spain - - - - - 1 Stéphanie Cornelis
+?/. 45 c.6179T>G r.(?) p.(Leu2060Arg) Unknown - likely pathogenic (recessive) g.94467517A>C g.94001961A>C Leu2060Arg - ABCA4_000786 no variant 2nd chromosome PubMed: Riveiro-Alvarez 2008 - - Unknown - - - - - DNA PE, SEQ - APEX retinal disease Unknown 179 PubMed: Riveiro-Alvarez 2008 - - ? Spain - - - - - 1 Stéphanie Cornelis
+?/. 45 c.6179T>G r.(?) p.(Leu2060Arg) Unknown - likely pathogenic (recessive) g.94467517A>C g.94001961A>C Leu2060Arg - ABCA4_000786 no variant 2nd chromosome PubMed: Riveiro-Alvarez 2008 - - Unknown - - - - - DNA PE, SEQ - APEX retinal disease Unknown 180 PubMed: Riveiro-Alvarez 2008 - - ? Spain - - - - - 1 Stéphanie Cornelis
+?/. 45 c.6179T>G r.(?) p.(Leu2060Arg) Unknown - likely pathogenic (recessive) g.94467517A>C g.94001961A>C c.6179T_x005F_x0001_G, p.Leu2060Arg - ABCA4_000786 no variant 2nd chromosome PubMed: Aguirre-Lambán 2011 - - Unknown - - - - - DNA PE, SEQ - APEX retinal disease Unknown 284 PubMed: Aguirre-Lambán 2011 - - ? Spain - - - - - 1 Stéphanie Cornelis
+?/. 45 c.6179T>G r.(?) p.(Leu2060Arg) Unknown - likely pathogenic (recessive) g.94467517A>C g.94001961A>C c.6179T_x005F_x0001_G, p.Leu2060Arg - ABCA4_000786 no variant 2nd chromosome PubMed: Aguirre-Lambán 2011 - - Unknown - - - - - DNA PE, SEQ - APEX retinal disease Unknown 285 PubMed: Aguirre-Lambán 2011 - - ? Spain - - - - - 1 Stéphanie Cornelis
+?/. 45 c.6179T>G r.(?) p.(Leu2060Arg) Unknown - likely pathogenic (recessive) g.94467517A>C g.94001961A>C c.6179T_x005F_x0001_G, p.Leu2060Arg - ABCA4_000786 no variant 2nd chromosome PubMed: Aguirre-Lambán 2011 - - Unknown - - - - - DNA PE, SEQ - APEX retinal disease Unknown 286 PubMed: Aguirre-Lambán 2011 - - ? Spain - - - - - 1 Stéphanie Cornelis
+?/. 45 c.6179T>G r.(?) p.(Leu2060Arg) Unknown - likely pathogenic (recessive) g.94467517A>C g.94001961A>C c.6179T_x005F_x0001_G, p.Leu2060Arg - ABCA4_000786 no variant 2nd chromosome PubMed: Aguirre-Lambán 2011 - - Unknown - - - - - DNA PE, SEQ - APEX retinal disease Unknown 287 PubMed: Aguirre-Lambán 2011 - - ? Spain - - - - - 1 Stéphanie Cornelis
+?/. 45 c.6179T>G r.(?) p.(Leu2060Arg) Unknown - likely pathogenic (recessive) g.94467517A>C g.94001961A>C c.6179T_x005F_x0001_G, p.Leu2060Arg - ABCA4_000786 no variant 2nd chromosome PubMed: Aguirre-Lambán 2011 - - Unknown - - - - - DNA PE, SEQ - APEX retinal disease Unknown 288 PubMed: Aguirre-Lambán 2011 - - ? Spain - - - - - 1 Stéphanie Cornelis
+?/. 45 c.6179T>G r.(?) p.(Leu2060Arg) Unknown - likely pathogenic (recessive) g.94467517A>C g.94001961A>C c.6179T_x005F_x0001_G, p.Leu2060Arg - ABCA4_000786 no variant 2nd chromosome PubMed: Aguirre-Lambán 2011 - - Unknown - - - - - DNA PE, SEQ - APEX retinal disease Unknown 289 PubMed: Aguirre-Lambán 2011 - - ? Spain - - - - - 1 Stéphanie Cornelis
+?/. 45 c.6179T>G r.(?) p.(Leu2060Arg) Unknown - likely pathogenic (recessive) g.94467517A>C g.94001961A>C c.6179T_x005F_x0001_G, p.Leu2060Arg - ABCA4_000786 no variant 2nd chromosome PubMed: Aguirre-Lambán 2011 - - Unknown - - - - - DNA PE, SEQ - APEX retinal disease Unknown 290 PubMed: Aguirre-Lambán 2011 - - ? Spain - - - - - 1 Stéphanie Cornelis
+?/. 45 c.6179T>G r.(?) p.(Leu2060Arg) Unknown - likely pathogenic (recessive) g.94467517A>C g.94001961A>C c.6179T>G - ABCA4_000786 - PubMed: Liu 2020 - - Unknown yes - - - - DNA SEQ-NG - - retinal disease A013 PubMed: Liu 2020 - - ? China - - - - - 1 Stéphanie Cornelis
+?/. 45 c.6179T>G r.(?) p.(Leu2060Arg) Both (homozygous) - likely pathogenic (recessive) g.94467517A>C g.94001961A>C c.6179T>G p.(Leu2060Arg) - ABCA4_000786 - PubMed: Del Pozo-Valero 2020 - - Germline - - - - - DNA SEQ-NG - - retinal disease MD-0640 PubMed: Del Pozo-Valero 2020 - - ? Spain - - - - - 1 Stéphanie Cornelis
+?/. 45 c.6179T>G r.(?) p.(Leu2060Arg) Both (homozygous) - likely pathogenic (recessive) g.94467517A>C g.94001961A>C c.6179T>G p.(Leu2060Arg) - ABCA4_000786 - PubMed: Del Pozo-Valero 2020 - - Germline - - - - - DNA SEQ-NG - - retinal disease MD-0658 PubMed: Del Pozo-Valero 2020 - - ? Spain - - - - - 1 Stéphanie Cornelis
+?/. 45 c.6179T>G r.(?) p.(Leu2060Arg) Unknown - likely pathogenic (recessive) g.94467517A>C g.94001961A>C c.6179T>G p.(Leu2060Arg) - ABCA4_000786 - PubMed: Del Pozo-Valero 2020 - - Germline - - - - - DNA SEQ-NG - - retinal disease MD-0980 PubMed: Del Pozo-Valero 2020 - - ? Spain - - - - - 1 Stéphanie Cornelis
+?/. 45 c.6179T>G r.(?) p.(Leu2060Arg) Unknown - likely pathogenic (recessive) g.94467517A>C g.94001961A>C c.6179T>G p.(Leu2060Arg) - ABCA4_000786 - PubMed: Del Pozo-Valero 2020 - - Germline - - - - - DNA SEQ-NG - - retinal disease RP-3080 PubMed: Del Pozo-Valero 2020 - - ? Spain - - - - - 1 Stéphanie Cornelis
+?/. 45 c.6179T>G r.(?) p.(Leu2060Arg) Unknown - likely pathogenic (recessive) g.94467517A>C g.94001961A>C c.T6179G (p.L2060R) - ABCA4_000786 - PubMed: Zhang 2016 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease BLM029 PubMed: Zhang 2016 - M ? United States Hispanic - - - - 1 Stéphanie Cornelis
+?/. 45 c.6179T>G r.(?) p.(Leu2060Arg) Unknown - likely pathogenic (recessive) g.94467517A>C g.94001961A>C c.6179T>G (p.Leu2060Arg) - ABCA4_000786 no segregation analysis done PubMed: Zernant 2017 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease 3160 PubMed: Zernant 2017 - - ? United States - - - - - 1 Stéphanie Cornelis
+?/. 45 c.6179T>G r.(?) p.(Leu2060Arg) Unknown - likely pathogenic (recessive) g.94467517A>C g.94001961A>C c.6179T>G p.(Leu2060Arg) - ABCA4_000786 - PubMed: Del Pozo-Valero 2020 - - Germline - - - - - DNA SEQ-NG - - retinal disease MD-0353 PubMed: Del Pozo-Valero 2020 - - ? Spain - - - - - 1 Stéphanie Cornelis
+?/. 45 c.6179T>G r.(?) p.(Leu2060Arg) Unknown - likely pathogenic (recessive) g.94467517A>C g.94001961A>C c.6179T>G p.(Leu2060Arg) - ABCA4_000786 - PubMed: Del Pozo-Valero 2020 - - Germline - - - - - DNA SEQ-NG - - retinal disease MD-0625 PubMed: Del Pozo-Valero 2020 - - ? Spain - - - - - 1 Stéphanie Cornelis
+?/. 45 c.6179T>G r.(?) p.(Leu2060Arg) Unknown - likely pathogenic (recessive) g.94467517A>C g.94001961A>C c.6179T>G p.(Leu2060Arg) - ABCA4_000786 - PubMed: Del Pozo-Valero 2020 - - Germline - - - - - DNA SEQ-NG - - retinal disease MD-0704 PubMed: Del Pozo-Valero 2020 - - ? Spain - - - - - 1 Stéphanie Cornelis
+?/. 45 c.6179T>G r.(?) p.(Leu2060Arg) Parent #1 - likely pathogenic (recessive) g.94467517A>C g.94001961A>C c.[5843C>T;6179T>G] p.[Pro1948Leu;Leu2060Arg] - ABCA4_000786 - PubMed: Del Pozo-Valero 2020 - - Germline - - - - - DNA SEQ-NG - - retinal disease MD-0716 PubMed: Del Pozo-Valero 2020 - - ? Spain - - - - - 1 Stéphanie Cornelis
+?/. 45 c.6179T>G r.(?) p.(Leu2060Arg) Unknown - likely pathogenic (recessive) g.94467517A>C g.94001961A>C c.6179T>G p.(Leu2060Arg) - ABCA4_000786 - PubMed: Del Pozo-Valero 2020 - - Germline - - - - - DNA SEQ-NG - - retinal disease MD-0963 PubMed: Del Pozo-Valero 2020 - - ? Spain - - - - - 1 Stéphanie Cornelis
+?/. 45 c.6179T>G r.(?) p.(Leu2060Arg) Unknown - likely pathogenic (recessive) g.94467517A>C g.94001961A>C c.6179T>G p.(Leu2060Arg) - ABCA4_000786 - PubMed: Del Pozo-Valero 2020 - - Germline - - - - - DNA SEQ-NG - - retinal disease MD-1025 PubMed: Del Pozo-Valero 2020 - - ? Spain - - - - - 1 Stéphanie Cornelis
+?/. 45 c.6179T>G r.(?) p.(Leu2060Arg) Both (homozygous) - likely pathogenic g.94467517A>C g.94001961A>C ABCA4 Ex.45 c.6179T>G p.(Leu2060Arg), Ex.45 c.6179T>G p.(Leu2060Arg) - ABCA4_000786 homozygous PubMed: Martin Merida 2019 - - Germline/De novo (untested) ? - - - - DNA SEQ-NG-I - - retinal disease RP-0193 PubMed: Martin Merida 2019 - ? - Spain - - - - - 1 LOVD
+/. 45 c.6179T>G r.(?) p.(Leu2060Arg) Parent #2 ACMG pathogenic (recessive) g.94467517A>C g.94001961A>C - - ABCA4_000786 - PubMed: Corradi 2023, Journal: Corradi 2023 - - Germline - - - - - DNA MIPsm, SEQ-NG - - retinal disease Pat19 PubMed: Corradi 2023, Journal: Corradi 2023 - F - - - - - - - 1 Zelia Corradi
+/. 45 c.6179T>G r.(?) p.(Leu2060Arg) Parent #2 ACMG pathogenic (recessive) g.94467517A>C g.94001961A>C - - ABCA4_000786 - PubMed: Corradi 2023, Journal: Corradi 2023 - - Germline - - - - - DNA MIPsm, SEQ-NG - - retinal disease Pat226 PubMed: Corradi 2023, Journal: Corradi 2023 - F - - - - - - - 1 Zelia Corradi
+/. 45 c.6179T>G r.(?) p.(Leu2060Arg) Parent #2 ACMG pathogenic (recessive) g.94467517A>C g.94001961A>C - - ABCA4_000786 - PubMed: Corradi 2023, Journal: Corradi 2023 - - Germline - - - - - DNA MIPsm, SEQ-NG - - retinal disease Pat235 PubMed: Corradi 2023, Journal: Corradi 2023 - M - - - - - - - 1 Zelia Corradi
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