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.

52 entries on 1 page. Showing entries 1 - 52.
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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)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

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Methylation     

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Technique     

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Disease     

ID_report     

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+/. 13i c.1937+1G>A r.spl p.? Unknown - pathogenic g.94528132C>T g.94062576C>T IVS13+1G>A - ABCA4_000773 - PubMed: Rivera 2000, PubMed: Gerth 2002 - - Germline - ExAC 1, 120972, 0, 0.000008266 - - - DNA DGGE, DHPLC, SSCA, PCR, SEQ - - STGD1 - PubMed: Rivera 2000, PubMed: Gerth 2002 - M ? Germany ? - - - - 1 Stéphanie Cornelis
+/. 13i c.1937+1G>A r.spl p.? Unknown - pathogenic g.94528132C>T g.94062576C>T IVS13+1G>A - ABCA4_000773 - PubMed: Rivera 2000 - - Germline - ExAC 1, 120972, 0, 0.000008266 - - - DNA DGGE, DHPLC, SSCA, PCR, SEQ - - STGD1 - PubMed: Rivera 2000 - ? ? Germany ? - - - - 1 Stéphanie Cornelis
?/. 13i c.1937+1G>A r.spl p.? Unknown - VUS g.94528132C>T g.94062576C>T c.1937+1G>A - ABCA4_000773 - PubMed: Rosenberg 2007 - - Germline - 1, 120972, 0, 0.000008266 - - - DNA PCR, SSCA, PE, SEQ - APEX ? - PubMed: Rosenberg 2007 Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome. ? no - ? - - - - 1 Stéphanie Cornelis
+/. 13i c.1937+1G>A r.spl p.? Unknown - pathogenic g.94528132C>T g.94062576C>T IVS13+1g>a - ABCA4_000773 - PubMed: Passerini 2010 - - Germline - 1, 120972, 0, 0.000008266 - - - DNA PCR, DHPLC, SEQ - - STGD1 - PubMed: Passerini 2010 - ? ? Italy ? - - - - 1 Stéphanie Cornelis
+/. 13i c.1937+1G>A r.spl p.? Unknown - pathogenic g.94528132C>T g.94062576C>T IVS13+1G>A - ABCA4_000773 - PubMed: Oldani 2012 - - Germline ? 1, 120972, 0, 0.000008266 - - - DNA PCR, SEQ - - STGD1 - PubMed: Oldani 2012 - ? ? - ? - - - - 1 Stéphanie Cornelis
?/. 13i c.1937+1G>A r.spl p.? Unknown - VUS g.94528132C>T g.94062576C>T c.1937+1G>A - ABCA4_000773 - PubMed: Ritter 2013 - - Germline - 1, 120972, 0, 0.000008266 - - - DNA PCR, SEQ - - STGD1 - PubMed: Ritter 2013 - M ? - ? - - - - 1 Stéphanie Cornelis
+/. 13i c.1937+1G>A r.spl p.? Both (homozygous) - pathogenic g.94528132C>T g.94062576C>T c.1937+1G>A - ABCA4_000773 - PubMed: Eandi 2014 - - Germline yes 1, 120972, 0, 0.000008266 - - - DNA SEQ - - STGD1 - PubMed: Eandi 2014 2-generation family, 2 affected M yes Somalia ? - - - - 1 Stéphanie Cornelis
+/. 13i c.1937+1G>A r.spl p.? Both (homozygous) - pathogenic g.94528132C>T g.94062576C>T c.1937+1G>A - ABCA4_000773 - PubMed: Eandi 2014 - - Germline yes 1, 120972, 0, 0.000008266 - - - DNA SEQ - - STGD1 - PubMed: Nõupuu 2014 2-generation family, 2 affected F yes Somalia ? - - - - 1 Stéphanie Cornelis
+?/. 13i c.1937+1G>A r.spl p.? Maternal (confirmed) - likely pathogenic g.94528132C>T g.94062576C>T c.1931+1G>A - ABCA4_000773 - PubMed: Müller 2015 - - Germline ? 1, 120972, 0, 0.000008266 - - - DNA SEQ - - ? - PubMed: Müller 2015 ? ? ? Germany white - - - - 1 Stéphanie Cornelis
+/. 13i c.1937+1G>A r.spl p.? Parent #1 ACMG pathogenic (recessive) g.94528132C>T g.94062576C>T - - ABCA4_000773 - PubMed: Cornelis 2017, Journal: Cornelis 2017, Journal: Cornelis 2023 - - SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
+/. 13i c.1937+1G>A r.spl p.? Parent #1 - pathogenic g.94528132C>T g.94062576C>T - - ABCA4_000773 - PubMed: Khan 2019 - - Unknown no - - - - DNA SEQ, MIPsm - - STGD1 ? PubMed: Khan 2019 - - - Germany - - - - - 1 Stéphanie Cornelis
+/. 13i c.1937+1G>A r.spl p.? Parent #1 - pathogenic g.94528132C>T g.94062576C>T - - ABCA4_000773 unknown variant 2nd allele PubMed: Khan 2019 - - Unknown no - - - - DNA SEQ, MIPsm - - STGD1 ? PubMed: Khan 2019 - - - Germany - - - - - 1 Stéphanie Cornelis
+/. 8i c.1937+1G>A r.(?) p.? Unknown - pathogenic (recessive) g.94528132C>T g.94062576C>T - - ABCA4_000773 - PubMed: Birtel 2018 - - Germline - - - - - DNA SEQ - - retinal disease Pat41 PubMed: Birtel 2018 patient F - Germany - - - - - 1 LOVD
+/. 13i c.1937+1G>A r.spl p.? Unknown - pathogenic (recessive) g.94528132C>T g.94062576C>T del Exons 12-13 - ABCA4_000773 - PubMed: Birtel 2018 - - Unknown - - - - - DNA SEQ - - retinal disease 37 PubMed: Birtel 2018 - F no Germany - - - - - 1 Stéphanie Cornelis
+/. 13i c.1937+1G>A r.spl p.? Unknown - pathogenic (recessive) g.94528132C>T g.94062576C>T c.1937+1G>A p.[(Y603_S646del, F647*)] - ABCA4_000773 no variant 2nd chromosome PubMed: Schulz 2017 - - Unknown - - - - - DNA arraySEQ, SEQ-NG - RetChip retinal disease Unknown 422 PubMed: Schulz 2017 191 F, 144 M in this study - ? Germany - - - - - 1 Stéphanie Cornelis
+/. 13i c.1937+1G>A r.spl p.? Unknown - pathogenic (recessive) g.94528132C>T g.94062576C>T c.1937+1G>A, splicesite alteration - ABCA4_000773 - 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
+/. 13i c.1937+1G>A r.spl p.? Unknown - pathogenic (recessive) g.94528132C>T g.94062576C>T c.[1937+1G>A] - ABCA4_000773 no segregation analysis done PubMed: Bauwens 2019PubMed: Weisschuh 2020 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease P6T3; 277 PubMed: Bauwens 2019PubMed: Weisschuh 2020 - F ? Germany - - - - - 1 Stéphanie Cornelis
+/. 13i c.1937+1G>A r.spl p.? Unknown - pathogenic (recessive) g.94528132C>T g.94062576C>T Ivs13+1g>a - ABCA4_000773 - PubMed: Piccardi 2019 - - Unknown - - - - - DNA SSCA, SEQ - SSCP coding region of ABCA4 retinal disease 42. PubMed: Piccardi 2019 - F ? Italy - - - - - 1 Stéphanie Cornelis
+/. 13i c.1937+1G>A r.spl p.? Unknown - pathogenic (recessive) g.94528132C>T g.94062576C>T c.1937+1G>A/p.? - ABCA4_000773 no segregation analysis done PubMed: Weisschuh 2020 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease 390 PubMed: Weisschuh 2020 - F ? Germany - - - - - 1 Stéphanie Cornelis
+/. 13i c.1937+1G>A r.spl p.? Unknown - pathogenic (recessive) g.94528132C>T g.94062576C>T c.1937+1G>A p.(?) - ABCA4_000773 - PubMed: Sodi 2018 - - Unknown - - - - - DNA SEQ - - retinal disease 20 PubMed: Sodi 2018 - - ? Italy - - - - - 1 Stéphanie Cornelis
+/. 13i c.1937+1G>A r.spl p.? Unknown - pathogenic (recessive) g.94528132C>T g.94062576C>T c.1937+1G>A - ABCA4_000773 no segregation analysis done PubMed: Sung 2020 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease F29 P34 PubMed: Sung 2020 - - ? - Han - - - - 1 Stéphanie Cornelis
+/. 13i c.1937+1G>A r.spl p.? Unknown - pathogenic (recessive) g.94528132C>T g.94062576C>T c.1937+1G>A, Heterozygous - ABCA4_000773 - PubMed: Goetz 2020 - - Unknown - 1, 120972, 0, 0.000008266 - - - DNA SEQ - - retinal disease 1351-1917 PubMed: Goetz 2020 1351 is a family member of 1350 - ? - - - - - - 1 Stéphanie Cornelis
+/. 13i c.1937+1G>A r.spl p.? Unknown - pathogenic (recessive) g.94528132C>T g.94062576C>T c.IVS13+1G>A, Heterozygous - ABCA4_000773 - PubMed: Goetz 2020 - - Unknown - 1, 120972, 0, 0.000008266 - - - DNA SEQ - - retinal disease 321-1733 PubMed: Goetz 2020 - - ? - - - - - - 1 Stéphanie Cornelis
+/. 13i c.1937+1G>A r.spl p.? Unknown - pathogenic (recessive) g.94528132C>T g.94062576C>T c.IVS13+1G>A, Heterozygous - ABCA4_000773 - PubMed: Goetz 2020 - - Unknown - 1, 120972, 0, 0.000008266 - - - DNA SEQ-NG-I - solid state SBS retinal disease 4573-5558 PubMed: Goetz 2020 - - ? - - - - - - 1 Stéphanie Cornelis
+/. 13i c.1937+1G>A r.spl p.? Unknown - pathogenic (recessive) g.94528132C>T g.94062576C>T c.IVS13+1G>A, Heterozygous - ABCA4_000773 - PubMed: Goetz 2020 - - Unknown - 1, 120972, 0, 0.000008266 - - - DNA SEQ-NG-I - solid state SBS retinal disease 510-1049 PubMed: Goetz 2020 - - ? - - - - - - 1 Stéphanie Cornelis
+/. 13i c.1937+1G>A r.spl p.? Unknown - pathogenic (recessive) g.94528132C>T g.94062576C>T c.IVS13+1G>A, Heterozygous - ABCA4_000773 - PubMed: Goetz 2020 - - Unknown - 1, 120972, 0, 0.000008266 - - - DNA SEQ-NG-I - solid state SBS retinal disease 5110-7109 PubMed: Goetz 2020 - - ? - - - - - - 1 Stéphanie Cornelis
+/. 13i c.1937+1G>A r.spl p.? Parent #1 - pathogenic (recessive) g.94528132C>T g.94062576C>T c.1937+1G>A - ABCA4_000773 no segregation analysis done PubMed: Jiang 2016 - - Unknown - - - - - DNA PCR, SEQ - - retinal disease 10230 PubMed: Jiang 2016 - - ? China - - - - - 1 Stéphanie Cornelis
+/. 8i c.1937+1G>A r.spl p.? Parent #1 - pathogenic (recessive) g.94528132C>T g.94062576C>T p.(?) - ABCA4_000773 - PubMed: Birtel 2018 - - Unknown - - - - - DNA SEQ - - retinal disease 41 PubMed: Birtel 2018 - F no Germany - - - - - 1 Stéphanie Cornelis
+/. 13i c.1937+1G>A r.spl p.? Parent #2 - pathogenic (recessive) g.94528132C>T g.94062576C>T c.1937+1G>A - ABCA4_000773 - PubMed: Parker 2016 - - Unknown - - - - - DNA ? - - retinal disease 10 PubMed: Parker 2016 - - ? - - - - - - 1 Stéphanie Cornelis
+/. 13i c.1937+1G>A r.spl p.? Unknown - pathogenic (recessive) g.94528132C>T g.94062576C>T Het NM_000350.2: c.1937+1G>A - ABCA4_000773 - PubMed: Abed 2018 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease 29 PubMed: Abed 2018 - F ? Italy - - - - - 1 Stéphanie Cornelis
+/. 13i c.1937+1G>A r.spl p.? Unknown - pathogenic (recessive) g.94528132C>T g.94062576C>T c.1937+1G>A, splicesite alteration - ABCA4_000773 - PubMed: Fujinami 2019 - - Unknown - - - - - DNA SEQ-NG - SEQ-NG (143 cases), APEX (44 cases), SSCP (24 cases), SEQ (134) retinal disease 17006 PubMed: Fujinami 2019 191 F, 154 M in this study - ? United States - - - - - 1 Stéphanie Cornelis
+/. 13i c.1937+1G>A r.spl p.? Unknown - pathogenic (recessive) g.94528132C>T g.94062576C>T c.1937+1G>A - ABCA4_000773 - PubMed: Zanolli 2020 - - Unknown - - - - - DNA ? - - retinal disease Unknown 1087 PubMed: Zanolli 2020 - - ? Chile - - - - - 1 Stéphanie Cornelis
+/. 13i c.1937+1G>A r.spl p.? Unknown - pathogenic (recessive) g.94528132C>T g.94062576C>T het c.1937+1G>A splice_site - ABCA4_000773 - PubMed: Gliem 2020 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease 60 PubMed: Gliem 2020 - F ? Germany - - - - - 1 Stéphanie Cornelis
+/. 13i c.1937+1G>A r.spl p.? Unknown - pathogenic (recessive) g.94528132C>T g.94062576C>T c.1937+1G>A r. spl - ABCA4_000773 - PubMed: Consugar 2015 - - Germline - - - - - DNA SEQ-NG - GEDi retinal disease OGI-533-1088 PubMed: Consugar 2015 - - ? United States - - - - - 1 Stéphanie Cornelis
+/. 13i c.1937+1G>A r.spl p.? Unknown - pathogenic (recessive) g.94528132C>T g.94062576C>T c.1937+1G>A/p.? - ABCA4_000773 no segregation analysis done PubMed: Weisschuh 2020 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease 493 PubMed: Weisschuh 2020 - M ? Germany - - - - - 1 Stéphanie Cornelis
+/. 13i c.1937+1G>A r.spl p.? Unknown - pathogenic (recessive) g.94528132C>T g.94062576C>T c.1937+1G>A/p.? - ABCA4_000773 no segregation analysis done PubMed: Weisschuh 2020 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease 350 PubMed: Weisschuh 2020 - F ? Germany - - - - - 1 Stéphanie Cornelis
+/. 13i c.1937+1G>A r.spl p.? Parent #1 ACMG pathogenic g.94528132C>T g.94062576C>T - - ABCA4_000773 - PubMed: Tracewska 2019 - - Germline yes 0 (in-house database, ~5000 samples) - - - DNA SEQ-NG-I, SEQ blood targeted resequencing using MIPs library prep, 108-gene panel retinal disease 410 PubMed: Tracewska 2019 proband F no Poland Slavic - - yes - 1 Anna Tracewska
+/. 13i c.1937+1G>A r.spl? p.? Parent #1 - pathogenic (recessive) g.94528132C>T - c.1009T>C/p.(Phe337Leu) //c.1937+1G>A - ABCA4_000773 - PubMed: Müller 2020 - - Unknown ? - - - - DNA SEQ, MLPA, SEQ-NG - - retinal disease 15 PubMed: Müller 2020 - F ? Germany - - - - - 1 LOVD
+/. - c.1937+1G>A r.spl p.? Parent #2 - pathogenic (recessive) g.94528132C>T g.94062576C>T - - ABCA4_000773 - PubMed: Tian 2024 - - Germline yes - - - - DNA SEQ - - retinal disease - PubMed: Tian 2024 - M - China - - - - - 1 Lu Tian
+/. 13i c.1937+1G>A r.spl p.(?) Unknown - pathogenic (recessive) g.94528132C>T - c.1937+1G>A - ABCA4_000773 - PubMed: Khan 2020 - - Unknown ? - - - - DNA MIPsm - smMIPs-based complete ABCA4 gene retinal disease 66824 PubMed: Khan 2019PubMed: Khan 2020 - M - Germany - - - - - 1 LOVD
+/. 13i c.1937+1G>A r.spl p.(?) Unknown - pathogenic (recessive) g.94528132C>T - c.1937+1G>A - ABCA4_000773 unknown variant 2nd chromosome PubMed: Khan 2020 - - Unknown ? - - - - DNA MIPsm - smMIPs-based complete ABCA4 gene retinal disease 66837 PubMed: Khan 2019PubMed: Khan 2020 - F - Germany - - - - - 1 LOVD
+/. - c.1937+1G>A r.spl p.? Unknown - pathogenic (recessive) g.94528132C>T g.94062576C>T - - ABCA4_000773 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Unknown - - - - - DNA SEQ-NG - - retinal disease L-0460 PubMed: Cornelis 2024, Journal: Cornelis 2024 - M - France - - - - - 1 Frans Cremers
+/. - c.1937+1G>A r.spl p.? Both (homozygous) - pathogenic (recessive) g.94528132C>T g.94062576C>T - - ABCA4_000773 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Germline yes - - - - DNA DHPLC, SEQ - - retinal disease L-0813 PubMed: Cornelis 2024, Journal: Cornelis 2024 - M - France - - - - - 1 Frans Cremers
+/. - c.1937+1G>A r.spl p.? Parent #1 - pathogenic (recessive) g.94528132C>T g.94062576C>T - - ABCA4_000773 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Germline yes - - - - DNA SEQ-NG - - retinal disease L-1018 PubMed: Cornelis 2024, Journal: Cornelis 2024 - M - France - - - - - 1 Frans Cremers
+/. - c.1937+1G>A r.spl p.? Both (homozygous) - pathogenic (recessive) g.94528132C>T g.94062576C>T - - ABCA4_000773 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Germline yes - - - - DNA DHPLC, SEQ - - retinal disease L-0813 PubMed: Cornelis 2024, Journal: Cornelis 2024 - M - France - - - - - 1 Frans Cremers
+/. - c.1937+1G>A r.spl p.? Unknown - pathogenic (recessive) g.94528132C>T g.94062576C>T - - ABCA4_000773 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Germline/De novo (untested) - - - - - DNA SEQ - - retinal disease MEH-nonmild-238 PubMed: Cornelis 2024, Journal: Cornelis 2024 - M - United Kingdom (Great Britain) - - - - - 1 Stéphanie Cornelis
+/. - c.1937+1G>A r.spl p.? Both (homozygous) - pathogenic (recessive) g.94528132C>T g.94062576C>T - - ABCA4_000773 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Germline/De novo (untested) - - - - - DNA SEQ - - retinal disease MEH-nonmild-272 PubMed: Cornelis 2024, Journal: Cornelis 2024 - F - United Kingdom (Great Britain) - - - - - 1 Stéphanie Cornelis
+/. - c.1937+1G>A r.spl p.? Both (homozygous) - pathogenic (recessive) g.94528132C>T g.94062576C>T - - ABCA4_000773 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Germline/De novo (untested) - - - - - DNA SEQ - - retinal disease MEH-nonmild-450 PubMed: Cornelis 2024, Journal: Cornelis 2024 - M - United Kingdom (Great Britain) - - - - - 1 Stéphanie Cornelis
+/. - c.1937+1G>A r.spl p.? Unknown ACMG pathogenic (recessive) g.94528132C>T g.94062576C>T - - ABCA4_000773 ACMG PM2, PVS1_STRONG, PP5_STRONG PubMed: Weisschuh 2024 - - Germline - - - - - DNA SEQ-NG - WGS ? MDS-383 PubMed: Weisschuh 2024 patient, no family history M - Germany - - - - - 1 Johan den Dunnen
+/. 13i c.1937+1G>A r.spl p.? Parent #1 ACMG pathogenic g.94528132C>T g.94062576C>T - - ABCA4_000773 - PubMed: Hitti-Malin 2024, Journal: Hitti-Malin 2024 - - Germline - - - - - DNA SEQ, SEQ-NG - smMIP-based 105 iMD/AMD genes macular dystrophy 073881 PubMed: Hitti-Malin 2024, Journal: Hitti-Malin 2024 - M - - - - - - - 1 Rebekkah Hitti-Malin
+/. - c.1937+1G>A r.spl p.? Unknown ACMG pathogenic g.94528132C>T g.94062576C>T - - ABCA4_000773 case unsolved PubMed: Hitti-Malin 2024, Journal: Hitti-Malin 2024 - - Germline - - - - - DNA SEQ - smMIP-based 105 iMD/AMD genes macular dystrophy 066837 PubMed: Hitti-Malin 2024, Journal: Hitti-Malin 2024 - - - - - - - - - 1 Johan den Dunnen
+/. 13i c.1937+1G>A r.spl p.? Parent #1 ACMG pathogenic g.94528132C>T g.94062576C>T - - ABCA4_000773 combination of variants not reported - - - Germline - - - - - DNA SEQ-NG - - STGD1 - - - - - Mexico - - - - - 1 Oscar Francisco Chacón Camacho
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