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.

45 entries on 1 page. Showing entries 1 - 45.
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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     

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Methylation     

Template     

Technique     

Tissue     

Remarks     

Disease     

ID_report     

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Gender     

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+/. 1 c.52C>T r.(?) p.(Arg18Trp) Maternal (confirmed) - pathogenic g.94586550G>A g.94120994G>A - - ABCA4_000037 - PubMed: Braun 2013 - - Germline yes - - - - DNA, RNA RT-PCR, SEQ - - STGD - PubMed: Braun 2013 2-generation family, 1 affected, unaffected parents M no United States - - - - - 1 Johan den Dunnen
+?/. 1 c.52C>T r.(?) p.(Arg18Trp) Both (homozygous) - likely pathogenic g.94586550G>A g.94120994G>A 52C>T - ABCA4_000037 - PubMed: Maugeri 1999 - - Germline yes ExAC 3, 121392, 0, 0.00002471 - - - DNA HD, SEQ - - STGD1 - PubMed: Maugeri 1999 - ? ? Sweden;Germany;Netherlands - - - - - 1 Stéphanie Cornelis
+?/. 1 c.52C>T r.(?) p.(Arg18Trp) Both (homozygous) - likely pathogenic g.94586550G>A g.94120994G>A C > T transition at nucleotide 52 - ABCA4_000037 - PubMed: Gerber 1998 - - Germline ? ExAC 3, 121392, 0, 0.00002471 - - - DNA PCR, SEQ - - STGD1 - PubMed: Gerber 1997 - ? ? France ? - - - - 1 Stéphanie Cornelis
+?/. 1 c.52C>T r.(?) p.(Arg18Trp) Both (homozygous) - likely pathogenic g.94586550G>A g.94120994G>A C > T transition at nucleotide 52 - ABCA4_000037 - PubMed: Gerber 1998 - - Germline ? ExAC 3, 121392, 0, 0.00002471 - - - DNA PCR, SEQ - - STGD1 - PubMed: Gerber 1997 - ? ? Germany ? - - - - 1 Stéphanie Cornelis
?/. 1 c.52C>T r.(?) p.(Arg18Trp) Unknown - VUS g.94586550G>A g.94120994G>A C52T - ABCA4_000037 - PubMed: Rozet 1998 - - Germline - ExAC 3, 121392, 0, 0.00002471 - - - DNA SSCA, PCR, SEQ - - STGD1 - PubMed: Kaplan 1993 - ? ? - - - - - - 1 Stéphanie Cornelis
?/. 1 c.52C>T r.(?) p.(Arg18Trp) Unknown - VUS g.94586550G>A g.94120994G>A 52C>T - ABCA4_000037 - PubMed: Klevering 2004 - - Germline - ExAC 3, 121392, 0, 0.00002471 - - - DNA PE, SSCA, SEQ - APEX CORD - PubMed: Klevering 2004 - F ? Netherlands;Germany white - - - - 1 Stéphanie Cornelis
+?/. 1 c.52C>T r.(?) p.(Arg18Trp) Unknown - likely pathogenic g.94586550G>A g.94120994G>A R18W(52C>T) - ABCA4_000037 - PubMed: Stenirri 2004 - - Germline - ExAC 3, 121392, 0, 0.00002471 - - - DNA PCR, DHPLC, SEQ - - STGD1 - PubMed: Stenirri 2004 4466+3G>A was also identified in this patient ? ? Italy ? - - - - 1 Stéphanie Cornelis
+?/. 1 c.52C>T r.(?) p.(Arg18Trp) Unknown - likely pathogenic g.94586550G>A g.94120994G>A c.52C>T - ABCA4_000037 - PubMed: Zernant 2011 - - Germline - 3, 121392, 0, 0.00002471 - - - DNA PE, SEQ-NG, SEQ - APEX ? - PubMed: Zernant 2011 - ? ? - ? - - - - 1 Stéphanie Cornelis
?/. 1 c.52C>T r.(?) p.(Arg18Trp) Unknown - VUS g.94586550G>A g.94120994G>A c.52C>T - ABCA4_000037 - PubMed: Zernant 2011 - - Germline - 3, 121392, 0, 0.00002471 - - - DNA PE, SEQ-NG, SEQ - APEX ? - PubMed: Zernant 2011 - ? ? - ? - - - - 1 Stéphanie Cornelis
+?/. 1 c.52C>T r.(?) p.(Arg18Trp) Unknown - likely pathogenic g.94586550G>A g.94120994G>A R18W - ABCA4_000037 - PubMed: Testa 2012 - - Germline - 3, 121392, 0, 0.00002471 - - - DNA PCR, SEQ - - STGD1 - PubMed: Testa 2012 - ? ? - ? - - - - 1 Stéphanie Cornelis
+?/. 1 c.52C>T r.(?) p.(Arg18Trp) Unknown - likely pathogenic g.94586550G>A g.94120994G>A Arg18Trp - ABCA4_000037 - PubMed: Oldani 2012 - - Germline - 3, 121392, 0, 0.00002471 - - - DNA PCR, SEQ - - STGD1 - PubMed: Oldani 2012 - ? ? - ? - - - - 1 Stéphanie Cornelis
+?/. 1 c.52C>T r.(?) p.(Arg18Trp) Unknown - likely pathogenic g.94586550G>A g.94120994G>A c.52C>T; - ABCA4_000037 - PubMed: Chacón-Camacho 2013 - - Germline ? 3, 121392, 0, 0.00002471 - - - DNA PCR, SEQ - - STGD1 - PubMed: Chacón-Camacho 2013 - ? ? Mexico ? - - - - 1 Stéphanie Cornelis
+?/. 1 c.52C>T r.(?) p.(Arg18Trp) Unknown - likely pathogenic g.94586550G>A g.94120994G>A c.52C>T - ABCA4_000037 - PubMed: Riveiro-Alvarez 2013 - - Germline - 3, 121392, 0, 0.00002471 - - - DNA PE, DHPLC, MCA, SEQ, MLPA, SEQ-NG - APEX CORD - PubMed: Riveiro-Alvarez 2013 - ? ? Spain ? - - - - 1 Stéphanie Cornelis
+?/. 1 c.52C>T r.(?) p.(Arg18Trp) Unknown - likely pathogenic g.94586550G>A g.94120994G>A c.52C>T - ABCA4_000037 - PubMed: Riveiro-Alvarez 2013 - - Germline ? 3, 121392, 0, 0.00002471 - - - DNA PE, DHPLC, MCA, SEQ, MLPA, SEQ-NG - APEX STGD1 - PubMed: Riveiro-Alvarez 2013 - ? ? Spain ? - - - - 1 Stéphanie Cornelis
+?/. 1 c.52C>T r.(?) p.(Arg18Trp) Unknown - likely pathogenic g.94586550G>A g.94120994G>A R18W - ABCA4_000037 - PubMed: Cideciyan 2009 - - Germline - 3, 121392, 0, 0.00002471 - - - DNA ? - - STGD1 - PubMed: Cideciyan 2009 ? M ? - ? - - - - 1 Stéphanie Cornelis
+/. 1 c.52C>T r.(52c>u) p.(Arg18Trp) Parent #1 ACMG pathogenic (recessive) g.94586550G>A g.94120994G>A - - ABCA4_000037 - PubMed: Cornelis 2017, Journal: Cornelis 2017, Journal: Cornelis 2023 - - SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
+/. 1 c.52C>T r.(?) p.(Arg18Trp) Parent #1 - pathogenic (recessive) g.94586550G>A g.94120994G>A - - ABCA4_000037 - PubMed: Birtel 2018 - - Germline - - - - - DNA SEQ - - retinal disease Pat7 PubMed: Birtel 2018 patient M - Germany - - - - - 1 LOVD
+?/. - c.52C>T r.(?) p.(Arg18Trp) Parent #1 - likely pathogenic g.94586550G>A g.94120994G>A - - ABCA4_000037 - PubMed: Bravo-Gil 2017 - - Germline yes - - - - DNA SEQ-NG - 68-gene panel retinal disease Pat4 PubMed: Bravo-Gil 2017 family - - Spain - - - - - 1 Nereida Bravo Gil
?/. - c.52C>T r.(?) p.(Arg18Trp) Unknown - VUS g.94586550G>A g.94120994G>A - - ABCA4_000037 - PubMed: Tsipi 2016 - - Germline - - - - - DNA SEQ - - retinal disease Pat1 PubMed: Tsipi 2016 see paper F - Greece - - - - - 1 LOVD
+?/. 1 c.52C>T r.(?) p.(Arg18Trp) Parent #2 - likely pathogenic (recessive) g.94586550G>A g.94120994G>A p.Arg18Trp - ABCA4_000037 - PubMed: Birtel 2018 - - Unknown - - - - - DNA SEQ - - retinal disease 7 PubMed: Birtel 2018 - M no Germany - - - - - 1 Stéphanie Cornelis
+?/. 1 c.52C>T r.(?) p.(Arg18Trp) Unknown - likely pathogenic (recessive) g.94586550G>A g.94120994G>A p.Arg18Trp c.52C>T - ABCA4_000037 no variant 2nd chromosome PubMed: Tsipi 2016 - - Unknown - - - - - DNA SEQ - - retinal disease 1 PubMed: Tsipi 2016 - F ? Greece - - - - - 1 Stéphanie Cornelis
+?/. 1 c.52C>T r.(?) p.(Arg18Trp) Unknown - likely pathogenic (recessive) g.94586550G>A g.94120994G>A c.52C>T p.(R18W) - ABCA4_000037 no variant 2nd chromosome PubMed: Schulz 2017 - - Unknown - - - - - DNA arraySEQ, SEQ-NG - RetChip retinal disease Unknown 373 PubMed: Schulz 2017 191 F, 144 M in this study - ? Germany - - - - - 1 Stéphanie Cornelis
+?/. 1 c.52C>T r.(?) p.(Arg18Trp) Parent #1 - likely pathogenic (recessive) g.94586550G>A g.94120994G>A c.52C> T, p.R18W - ABCA4_000037 - PubMed: Bravo-Gil 2017 - - Unknown yes - - - - DNA SEQ-NG-I - - retinal disease 4 PubMed: Bravo-Gil 2017 - F ? Spain - - - - - 1 Stéphanie Cornelis
+?/. 1 c.52C>T r.(?) p.(Arg18Trp) Unknown - likely pathogenic (recessive) g.94586550G>A g.94120994G>A c.52C>T (p.Arg18Trp) - ABCA4_000037 no segregation analysis done PubMed: Zernant 2017 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease Y417 PubMed: Zernant 2017 - - ? United States - - - - - 1 Stéphanie Cornelis
+?/. 1 c.52C>T r.(?) p.(Arg18Trp) Unknown - likely pathogenic (recessive) g.94586550G>A g.94120994G>A c.52C>T (p.Arg18Trp) - ABCA4_000037 no segregation analysis done PubMed: Zernant 2017 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease 3075 PubMed: Zernant 2017 - - ? United States - - - - - 1 Stéphanie Cornelis
+?/. 1 c.52C>T r.(?) p.(Arg18Trp) Unknown - likely pathogenic (recessive) g.94586550G>A g.94120994G>A c.52C>T (p.Arg18Trp) - ABCA4_000037 no segregation analysis done PubMed: Zernant 2017 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease 4338 PubMed: Zernant 2017 - - ? United States - - - - - 1 Stéphanie Cornelis
+?/. 1 c.52C>T r.(?) p.(Arg18Trp) Unknown - likely pathogenic (recessive) g.94586550G>A g.94120994G>A c.52C>T (p.Arg18Trp) - ABCA4_000037 no segregation analysis done PubMed: Zernant 2017 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease 9051 PubMed: Zernant 2017 - - ? United States - - - - - 1 Stéphanie Cornelis
+?/. 1 c.52C>T r.(?) p.(Arg18Trp) Unknown - likely pathogenic (recessive) g.94586550G>A g.94120994G>A c.52C>T - ABCA4_000037 - PubMed: Smaragda 2018 - - Unknown - - - - - DNA MLPA, PE, SEQ - APEX retinal disease F-ABCA4-37 PubMed: Smaragda 2018 - F ? Greece - - - - - 1 Stéphanie Cornelis
+?/. 1 c.52C>T r.(?) p.(Arg18Trp) Unknown - likely pathogenic (recessive) g.94586550G>A g.94120994G>A c.52C>T p.Arg18Trp - ABCA4_000037 - PubMed: Smaragda 2018 - - Unknown - - - - - DNA MLPA, PE, SEQ - APEX retinal disease ABCA4-20A PubMed: Smaragda 2018 - F ? Greece - - - - - 1 Stéphanie Cornelis
+?/. 1 c.52C>T r.(?) p.(Arg18Trp) Unknown - likely pathogenic (recessive) g.94586550G>A g.94120994G>A R18W - ABCA4_000037 - PubMed: Piccardi 2019 - - Unknown - - - - - DNA SSCA, SEQ - SSCP coding region of ABCA4 retinal disease 32. PubMed: Piccardi 2019 - M ? Italy - - - - - 1 Stéphanie Cornelis
+?/. 1 c.52C>T r.(?) p.(Arg18Trp) Unknown - likely pathogenic (recessive) g.94586550G>A g.94120994G>A c.52C>T; p.Arg18Trp - ABCA4_000037 - PubMed: Piccardi 2019 - - Unknown - - - - - DNA SSCA, SEQ - SSCP coding region of ABCA4 retinal disease 4. PubMed: Piccardi 2019 - F ? Italy - - - - - 1 Stéphanie Cornelis
+?/. 1 c.52C>T r.(?) p.(Arg18Trp) Unknown - likely pathogenic (recessive) g.94586550G>A g.94120994G>A het c.52C>T p.Arg18Trp - ABCA4_000037 - PubMed: Gliem 2020 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease 98 PubMed: Gliem 2020 - F ? Germany - - - - - 1 Stéphanie Cornelis
+?/. 1 c.52C>T r.(?) p.(Arg18Trp) Unknown - likely pathogenic (recessive) g.94586550G>A g.94120994G>A c.52C>T, p.Arg18Trp Heterozygous - ABCA4_000037 no variant 2nd chromosome PubMed: Goetz 2020 - - Unknown - 3, 121392, 0, 0.00002471 - - - DNA SEQ - - retinal disease 4056-4934 PubMed: Goetz 2020 - - ? - - - - - - 1 Stéphanie Cornelis
+?/. 1 c.52C>T r.(?) p.(Arg18Trp) Unknown - likely pathogenic (recessive) g.94586550G>A g.94120994G>A c.52C>T, p.Arg18Trp Heterozygous - ABCA4_000037 - PubMed: Goetz 2020 - - Unknown - 3, 121392, 0, 0.00002471 - - - DNA SEQ-NG-I - solid state SBS retinal disease 4423-6264 PubMed: Goetz 2020 - - ? - - - - - - 1 Stéphanie Cornelis
+?/. 1 c.52C>T r.(?) p.(Arg18Trp) Unknown - likely pathogenic (recessive) g.94586550G>A g.94120994G>A c.52C>T, p.Arg18Trp - ABCA4_000037 - PubMed: Fujinami 2019 - - Unknown - - - - - DNA SEQ-NG - SEQ-NG (143 cases), APEX (44 cases), SSCP (24 cases), SEQ (134) retinal disease 15038 PubMed: Fujinami 2019 191 F, 154 M in this study - ? Germany - - - - - 1 Stéphanie Cornelis
+?/. 1 c.52C>T r.(?) p.(Arg18Trp) Unknown - likely pathogenic (recessive) g.94586550G>A g.94120994G>A c.52C>T, p.Arg18Trp Heterozygous - ABCA4_000037 - PubMed: Goetz 2020 - - Unknown - 3, 121392, 0, 0.00002471 - - - DNA SEQ-NG-I - solid state SBS retinal disease 4275-6076 PubMed: Goetz 2020 - - ? - - - - - - 1 Stéphanie Cornelis
+?/. 1 c.52C>T r.(?) p.(Arg18Trp) Parent #1 - likely pathogenic g.94586550G>A - c.[52C>T;5603A>T] - ABCA4_000037 - PubMed: Maggi_2021 - - Germline - - - - - DNA SEQ - - retinal disease - PubMed: Maggi_2021 - F - Switzerland - - - - - 1 LOVD
+?/. 1 c.52C>T r.(?) p.(Arg18Trp) Parent #1 - likely pathogenic g.94586550G>A - c.[52C>T;5603A>T] - ABCA4_000037 - PubMed: Maggi_2021 - - Germline - - - - - DNA SEQ - - retinal disease - PubMed: Maggi_2021 - F - Switzerland - - - - - 1 LOVD
+?/. 1 c.52C>T r.(?) p.(Arg18Trp) Parent #1 - likely pathogenic (recessive) g.94586550G>A - c.52C>T/p.(Arg18Trp) //c.1715G>A/p.(Arg572Gln) //c.2828G>A/p.(Arg943Gln) - ABCA4_000037 - PubMed: Müller 2020 - - Unknown ? - - - - DNA SEQ, MLPA, SEQ-NG - - retinal disease 32 PubMed: Müller 2020 - M ? Germany - - - - - 1 LOVD
+/. 1 c.52C>T r.(?) p.(Arg18Trp) Parent #1 ACMG pathogenic (recessive) g.94586550G>A g.94120994G>A - - ABCA4_000037 - PubMed: Corradi 2023, Journal: Corradi 2023 - - Germline - - - - - DNA MIPsm, SEQ-NG - - retinal disease Pat127 PubMed: Corradi 2023, Journal: Corradi 2023 - M - - - - - - - 1 Zelia Corradi
+/. - c.52C>T r.(?) p.(Arg18Trp) Unknown - pathogenic (recessive) g.94586550G>A g.94120994G>A - - ABCA4_000037 no variant 2nd chromosome PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Unknown - - - - - DNA SEQ-NG - - retinal disease L-0198 PubMed: Cornelis 2024, Journal: Cornelis 2024 - F - France - - - - - 1 Frans Cremers
+/. - c.52C>T r.(?) p.(Arg18Trp) Unknown - pathogenic (recessive) g.94586550G>A g.94120994G>A - - ABCA4_000037 no variant 2nd chromosome PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Unknown - - - - - DNA DHPLC, SEQ - - retinal disease L-0737 PubMed: Cornelis 2024, Journal: Cornelis 2024 - M - France - - - - - 1 Frans Cremers
+/. - c.52C>T r.(?) p.(Arg18Trp) Unknown - pathogenic (recessive) g.94586550G>A g.94120994G>A - - ABCA4_000037 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Germline/De novo (untested) - - - - - DNA SEQ - - retinal disease MEH-mild-160 PubMed: Cornelis 2024, Journal: Cornelis 2024 - M - United Kingdom (Great Britain) - - - - - 1 Stéphanie Cornelis
+/. - c.52C>T r.(?) p.(Arg18Trp) Unknown ACMG pathogenic (recessive) g.94586550G>A g.94120994G>A - - ABCA4_000037 ACMG PP3, PM2, PM5, PP2, PP5_STRONG PubMed: Weisschuh 2024 1048166 - Germline - - - - - DNA SEQ-NG - WGS ? STGD-428 PubMed: Weisschuh 2024 patient, no family history F - Germany - - - - - 1 Johan den Dunnen
+/. - c.52C>T r.(52c>u) p.(Arg18Trp) Parent #1 ACMG pathogenic g.94586550G>A g.94120994G>A - - ABCA4_000037 combination of variants not reported - - - Germline - - - - - DNA SEQ-NG - - STGD1 - - - - - Mexico - - - - - 1 Oscar Francisco Chacón Camacho
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