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.

37 entries on 1 page. Showing entries 1 - 37.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

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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     

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VIP     

Methylation     

Template     

Technique     

Tissue     

Remarks     

Disease     

ID_report     

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+/. 38 c.5413A>G r.(?) p.(Asn1805Asp) Both (homozygous) - pathogenic g.94480146T>C g.94014590T>C N1805D - ABCA4_000122 - PubMed: Paloma 2001 - - Germline ? ExAC 2, 121410, 0, 0.00001647 - - - DNA PCR, SSCA, SEQ - - STGD1 - PubMed: Riveiro-Alvarez 2013 - ? ? Spain ? - - - - 1 Stéphanie Cornelis
+?/. 38 c.5413A>G r.(?) p.(Asn1805Asp) Both (homozygous) - likely pathogenic g.94480146T>C g.94014590T>C N1805D - ABCA4_000122 - PubMed: Paloma 2002 - - Germline yes ExAC 2, 121410, 0, 0.00001647 - - - DNA PCR, SEQ, PCRdig - - STGD1 - PubMed: Paloma 2002 - M ? Spain ? - - - - 1 Stéphanie Cornelis
?/. 38 c.5413A>G r.(?) p.(Asn1805Asp) Paternal (inferred) - VUS g.94480146T>C g.94014590T>C N1805D - ABCA4_000122 - PubMed: Paloma 2002 - - Germline - ExAC 2, 121410, 0, 0.00001647 - - - DNA PCR, SEQ, PCRdig - - retinal disease - PubMed: Paloma 2002 - F ? Spain ? - - - - 1 Stéphanie Cornelis
+?/. 38 c.5413A>G r.(?) p.(Asn1805Asp) Both (homozygous) - likely pathogenic g.94480146T>C g.94014590T>C c.5413A>G - ABCA4_000122 - PubMed: Riveiro-Alvarez 2008 - - Germline ? 2, 121410, 0, 0.00001647 - - - DNA PE, PCR, SEQ, DHPLC - APEX STGD1 FamPatII1 PubMed: Riveiro-Alvarez 2008 2-generation familly, 2 affected M ? Spain ? - - - - 2 Stéphanie Cornelis
?/. 38 c.5413A>G r.(?) p.(Asn1805Asp) Unknown - VUS g.94480146T>C g.94014590T>C c.5413A>G - ABCA4_000122 found no variant 2nd chromosome PubMed: Riveiro-Alvarez 2008 - - Germline - 2, 121410, 0, 0.00001647 - - - DNA PE, PCR, SEQ, DHPLC - APEX retinal disease FamPatII4 PubMed: Riveiro-Alvarez 2008 2-generation familly, 2 affected F ? Spain ? - - - - 1 Stéphanie Cornelis
+/. 38 c.5413A>G r.(?) p.(Asn1805Asp) Unknown - pathogenic g.94480146T>C g.94014590T>C c.5413A>G - ABCA4_000122 - PubMed: Zernant 2011 - - Germline - 2, 121410, 0, 0.00001647 - - - DNA PE, SEQ-NG, SEQ - APEX ? - PubMed: Zernant 2011 - ? ? - ? - - - - 1 Stéphanie Cornelis
?/. 38 c.5413A>G r.(?) p.(Asn1805Asp) Both (homozygous) - VUS g.94480146T>C g.94014590T>C c.5413A>G - ABCA4_000122 - PubMed: Riveiro-Alvarez 2013, PubMed: Sanchez-Alcudia 2014 - - Germline - 2, 121410, 0, 0.00001647 - - - DNA PE, DHPLC, MCA, SEQ, MLPA, SEQ-NG - APEX retinal disease RP-0280PatII1 PubMed: Riveiro-Alvarez 2013, PubMed: Sanchez-Alcudia 2014 2-generation family, affected brother/sister M ? Spain ? - - - - 2 Stéphanie Cornelis
+?/. 38 c.5413A>G r.(5413a>g) p.(Asn1805Asp) Parent #1 ACMG likely pathogenic (recessive) g.94480146T>C g.94014590T>C - - ABCA4_000122 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 - - - - - - - - - - - - - - - - - - - - - - -
+/. 38 c.5413A>G r.(?) p.(Asn1805Asp) Unknown - pathogenic g.94480146T>C g.94014590T>C A5413G - ABCA4_000122 - PubMed: Sheremet 2017 - rs61753029 Germline - - - - - DNA SEQ peripheral blood lymphocytes - retinal disease Pat2 PubMed: Sheremet 2017 patient F - Russia - - - - - 1 LOVD
?/. 38 c.5413A>G r.(?) p.(Asn1805Asp) Unknown - VUS g.94480146T>C g.94014590T>C c.5413A>G (p.Asn1805Asp) - ABCA4_000122 - PubMed: Kellner 2009 - - Unknown - - - - - DNA PE, SEQ - APEX retinal disease 2808 PubMed: Kellner 2009 - F ? Germany - - - - - 1 Stéphanie Cornelis
?/. 38 c.5413A>G r.(?) p.(Asn1805Asp) Unknown - VUS g.94480146T>C g.94014590T>C c.5413A>G (p.Asn1805Asp) - ABCA4_000122 - PubMed: Reich 2019PubMed: Reich 2020 - - Unknown - - - - - DNA ? - - retinal disease 17; 13 PubMed: Reich 2019PubMed: Reich 2020 - F ? Germany - - - - - 1 Stéphanie Cornelis
?/. 38 c.5413A>G r.(?) p.(Asn1805Asp) Both (homozygous) - VUS g.94480146T>C g.94014590T>C c.5413A>G p.(Asn1805Asp) - ABCA4_000122 - PubMed: Del Pozo-Valero 2020 - - Germline yes - - - - DNA SEQ-NG - - retinal disease RP-0280 PubMed: Del Pozo-Valero 2020 - - ? Spain - - - - - 1 Stéphanie Cornelis
?/. 38 c.5413A>G r.(?) p.(Asn1805Asp) Unknown - VUS g.94480146T>C g.94014590T>C c.5413A>G/p.N1805D - ABCA4_000122 no segregation analysis done PubMed: Weisschuh 2020 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease 715 PubMed: Weisschuh 2020 - F ? Germany - - - - - 1 Stéphanie Cornelis
?/. 38 c.5413A>G r.(?) p.(Asn1805Asp) Unknown - VUS g.94480146T>C g.94014590T>C c.5413A>G/p.N1805D - ABCA4_000122 no segregation analysis done PubMed: Weisschuh 2020 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease 346 PubMed: Weisschuh 2020 - F ? Germany - - - - - 1 Stéphanie Cornelis
?/. 38 c.5413A>G r.(?) p.(Asn1805Asp) Both (homozygous) - VUS g.94480146T>C g.94014590T>C c.5413A>G p.Asn1805Asp hom - ABCA4_000122 - Prevention Genetics - - Unknown - - - - - DNA SEQ-NG - STGDMD panel retinal disease 2017-244-113 Prevention Genetics - - ? - - - - - - 1 Stéphanie Cornelis
?/. 38 c.5413A>G r.(?) p.(Asn1805Asp) Unknown - VUS g.94480146T>C g.94014590T>C c.5413A>G p.Asn1805Asp het - ABCA4_000122 - Prevention Genetics - - Unknown - - - - - DNA SEQ-NG - STGDMD panel retinal disease 2017-290-269 Prevention Genetics - - ? - - - - - - 1 Stéphanie Cornelis
?/. 38 c.5413A>G r.(?) p.(Asn1805Asp) Unknown - VUS g.94480146T>C g.94014590T>C c.5413A>G p.Asn1805Asp Het - ABCA4_000122 - Prevention Genetics - - Unknown - - - - - DNA SEQ-NG - IRD panel retinal disease 2020-205-274 Prevention Genetics - - ? - - - - - - 1 Stéphanie Cornelis
?/. 38 c.5413A>G r.(?) p.(Asn1805Asp) Unknown - VUS g.94480146T>C g.94014590T>C c.5413A>G, p.Asn1805Asp heterozygous - ABCA4_000122 no variant 2nd chromosome PubMed: Goetz 2020 - - Unknown - 2, 121410, 0, 0.00001647 - - - DNA arraySEQ, SEQ - Gene Chip retinal disease 443-946 PubMed: Goetz 2020 - - ? - - - - - - 1 Stéphanie Cornelis
?/. 38 c.5413A>G r.(?) p.(Asn1805Asp) Unknown - VUS g.94480146T>C g.94014590T>C c.5413A>G, p.Asn1805Asp heterozygous - ABCA4_000122 - PubMed: Goetz 2020 - - Unknown - 2, 121410, 0, 0.00001647 - - - DNA arraySEQ, SEQ - Gene Chip retinal disease 500-1010 PubMed: Goetz 2020 - - ? - - - - - - 1 Stéphanie Cornelis
?/. 38 c.5413A>G r.(?) p.(Asn1805Asp) Unknown - VUS g.94480146T>C g.94014590T>C N1805D - ABCA4_000122 segregation analysis done when possible PubMed: Chen 2010 - - Unknown - - - - - DNA SEQ - - retinal disease S0040 PubMed: Chen 2010 - - ? United States - - - - - 1 Stéphanie Cornelis
?/. 38 c.5413A>G r.(?) p.(Asn1805Asp) Unknown - VUS g.94480146T>C g.94014590T>C c.A5413G p.N1805D - ABCA4_000122 - PubMed: Sheremet 2017 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease 2 PubMed: Sheremet 2017 - F ? Russia Russia - - - - 1 Stéphanie Cornelis
?/. 38 c.5413A>G r.(?) p.(Asn1805Asp) Unknown - VUS g.94480146T>C g.94014590T>C c.5413A>G, p.Asn1805Asp Heterozygous - ABCA4_000122 - PubMed: Goetz 2020 - - Unknown - 2, 121410, 0, 0.00001647 - - - DNA SEQ-NG-I - solid state SBS retinal disease 2297-2931 PubMed: Goetz 2020 - - ? - - - - - - 1 Stéphanie Cornelis
?/. 38 c.5413A>G r.(?) p.(Asn1805Asp) Unknown - VUS g.94480146T>C g.94014590T>C c.5413A>G, p.Asn1805Asp heterozygous - ABCA4_000122 - PubMed: Goetz 2020 - - Unknown - 2, 121410, 0, 0.00001647 - - - DNA SEQ - - retinal disease 6016-509 PubMed: Goetz 2020 - - ? - - - - - - 1 Stéphanie Cornelis
?/. - c.5413A>G r.(?) p.(Asn1805Asp) Parent #1 - VUS g.94480146T>C - N1805D - ABCA4_000122 - PubMed: Sanchez-Alcudia 2014 - - Germline - - - - - DNA SSCA, DHPLC, SEQ-NG, PCR, SEQ - - retinal disease RP-0280PatII4 PubMed: Sánchez-Alcudia 2014 sister F - Spain Spanish - - - - 1 Frans Cremers
+?/. 38 c.5413A>G r.(?) p.(Asn1805Asp) Unknown - likely pathogenic g.94480146T>C - c.5413A>G - ABCA4_000122 - PubMed: Maggi_2021 - - Germline - - - - - DNA SEQ - - retinal disease - PubMed: Maggi_2021 - F - Switzerland - - - - - 1 LOVD
+?/. 38 c.5413A>G r.(?) p.(Asn1805Asp) Parent #1 - likely pathogenic g.94480146T>C - c.5413A>G - ABCA4_000122 - PubMed: Maggi_2021 - - Germline yes - - - - DNA SEQ - - retinal disease - PubMed: Maggi_2021 - M - Switzerland - - - - - 1 LOVD
?/. - c.5413A>G r.(?) p.(Asn1805Asp) Unknown - VUS g.94480146T>C - - - ABCA4_000122 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.5413A>G r.(?) p.(Asn1805Asp) Parent #2 - likely pathogenic (recessive) g.94480146T>C g.94014590T>C ABCA4 p.R1640W - ABCA4_000122 heterozygous; no nucleotide annotation, extrapolated from protein, sequence and databases PubMed: Sheremet 2019 - - Unknown ? - - - - DNA ? - - STGD 8 PubMed: Sheremet 2019 (article in Russian, mutations from the table) - - - - - - - - 1 LOVD
+?/. 38 c.5413A>G r.(?) p.(Asn1805Asp) Both (homozygous) ACMG pathogenic (recessive) g.94480146T>C - - - ABCA4_000122 - Bianco 2023, submitted - - Germline yes - - - - DNA SEQ-NG-I Peripheral Blood Sample - STGD1 601691#50 Bianco 2023, submitted - M no Italy - - - - - 1 Lorenzo Bianco
+?/. 38 c.5413A>G r.(?) p.(Asn1805Asp) Parent #2 ACMG likely pathogenic (recessive) g.94480146T>C g.94014590T>C - - ABCA4_000122 - PubMed: Corradi 2023, Journal: Corradi 2023 - - Germline - - - - - DNA MIPsm, SEQ-NG - - retinal disease Pat68 PubMed: Corradi 2023, Journal: Corradi 2023 - F - - - - - - - 1 Zelia Corradi
+?/. - c.5413A>G r.(?) p.(Asn1805Asp) Parent #1 - likely pathogenic (recessive) g.94480146T>C g.94014590T>C - - ABCA4_000122 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Germline yes - - - - DNA SEQ-NG - - retinal disease L-0091 PubMed: Cornelis 2024, Journal: Cornelis 2024 - F - France - - - - - 1 Frans Cremers
+?/. - c.5413A>G r.(?) p.(Asn1805Asp) Unknown - likely pathogenic (recessive) g.94480146T>C g.94014590T>C - - ABCA4_000122 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Germline/De novo (untested) - - - - - DNA SEQ - - retinal disease MEH-nonmild-233 PubMed: Cornelis 2024, Journal: Cornelis 2024 - F - United Kingdom (Great Britain) - - - - - 1 Stéphanie Cornelis
+?/. - c.5413A>G r.(?) p.(Asn1805Asp) Unknown - likely pathogenic (recessive) g.94480146T>C g.94014590T>C - - ABCA4_000122 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Germline/De novo (untested) - - - - - DNA SEQ - - retinal disease MEH-mild-252 PubMed: Cornelis 2024, Journal: Cornelis 2024 - M - United Kingdom (Great Britain) - - - - - 1 Stéphanie Cornelis
+?/. - c.5413A>G r.(?) p.(Asn1805Asp) Unknown ACMG likely pathogenic (recessive) g.94480146T>C g.94014590T>C - - ABCA4_000122 ACMG PP3, PM2, PM1_SUPPORTING, PP2, PP5 PubMed: Weisschuh 2024 - - Germline - - - - - DNA SEQ-NG - WGS ? STGD-462 PubMed: Weisschuh 2024 patient, no family history M - Germany - - - - - 1 Johan den Dunnen
+/. 38 c.5413A>G r.(?) p.(Asn1805Asp) Parent #1 ACMG pathogenic g.94480146T>C g.94014590T>C - - ABCA4_000122 - PubMed: Hitti-Malin 2024, Journal: Hitti-Malin 2024 - - Germline - - - - - DNA SEQ, SEQ-NG - smMIP-based 105 iMD/AMD genes macular dystrophy 073758 PubMed: Hitti-Malin 2024, Journal: Hitti-Malin 2024 - M - - - - - - - 1 Rebekkah Hitti-Malin
+/. 38 c.5413A>G r.(?) p.(Asn1805Asp) Parent #1 ACMG pathogenic g.94480146T>C g.94014590T>C - - ABCA4_000122 - PubMed: Hitti-Malin 2024, Journal: Hitti-Malin 2024 - - Germline - - - - - DNA SEQ, SEQ-NG - smMIP-based 105 iMD/AMD genes macular dystrophy 074084 PubMed: Hitti-Malin 2024, Journal: Hitti-Malin 2024 - F - - - - - - - 1 Rebekkah Hitti-Malin
+?/. 38 c.5413A>G r.(5413a>g) p.(Asn1805Asp) Unknown ACMG likely pathogenic g.94480146T>C g.94014590T>C - - ABCA4_000122 combination of variants not reported - - - Germline - - - - - DNA SEQ-NG - - STGD1 - - - - - Mexico - - - - - 1 Oscar Francisco Chacón Camacho
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