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.

26 entries on 1 page. Showing entries 1 - 26.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Allele     

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     

Re-site     

VIP     

Methylation     

Template     

Technique     

Tissue     

Remarks     

Disease     

ID_report     

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Remarks     

Gender     

Consanguinity     

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Age at death     

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Owner     
+/. 6 c.658C>T r.(?) p.(Arg220Cys) Unknown - pathogenic g.94564460G>A g.94098904G>A - - ABCA4_000056 - - - - Unknown - - - - - DNA SEQ-NG-I - - RP - - - - - (United States) - - - - - 1 Feng Wang
?/. 6 c.658C>T r.(?) p.(Arg220Cys) Unknown - likely pathogenic g.94564460G>A g.94098904G>A - - ABCA4_000056 - PubMed: Zernant 2014 - - Germline - - - - - DNA SEQ-NG-I - - STGD1 - PubMed: Zernant 2014 - - - United States African American - - - - 1 Jana Zernant
+?/. 6 c.658C>T r.(?) p.(Arg220Cys) Unknown - likely pathogenic g.94564460G>A g.94098904G>A c.658C>T - ABCA4_000056 - PubMed: Wang 2014 - - Germline ? - - - - DNA SEQ-NG-I, SEQ - - retinal disease - PubMed: Wang 2014 Also the mutation c.1622T>C, p.Leu541Pro was identified in this patient. ? ? - ? - - - - 1 Stéphanie Cornelis
?/. 6 c.658C>T r.(?) p.(Arg220Cys) Unknown - VUS g.94564460G>A g.94098904G>A 658C > T - ABCA4_000056 - PubMed: Webster 2001 - - Germline - - - - - DNA SSCA, SEQ - - STGD1 - PubMed: Webster 2001 Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome. ? ? United States - - - - - 1 Stéphanie Cornelis
?/. 6 c.658C>T r.(?) p.(Arg220Cys) Unknown - VUS g.94564460G>A g.94098904G>A 658C > T - ABCA4_000056 - PubMed: Webster 2001 - - Germline - - - - - DNA SSCA, SEQ - - STGD1 - PubMed: Webster 2001 Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome. ? ? United States - - - - - 1 Stéphanie Cornelis
+/. 6 c.658C>T r.(?) p.(Arg220Cys) Unknown - pathogenic g.94564460G>A g.94098904G>A c.658C>T - ABCA4_000056 - PubMed: Fujinami 2013 - - Germline - - - - - DNA PE - APEX STGD1 - PubMed: Fujinami 2013 - ? ? - ? - - - - 1 Stéphanie Cornelis
+?/. 6 c.658C>T r.(?) p.(Arg220Cys) Both (homozygous) - likely pathogenic g.94564460G>A g.94098904G>A R220C - ABCA4_000056 - PubMed: Cideciyan 2009 - - Germline ? - - - - DNA ? - - STGD1 - PubMed: Cideciyan 2009 ? F ? - ? - - - - 1 Stéphanie Cornelis
+?/. 6 c.658C>T r.(658c>u) p.(Arg220Cys) Parent #1 ACMG likely pathogenic (recessive) g.94564460G>A g.94098904G>A - - ABCA4_000056 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 - - - - - - - - - - - - - - - - - - - - - - -
+?/. 6 c.658C>T r.(?) p.(Arg220Cys) Parent #1 - likely pathogenic g.94564460G>A g.94098904G>A - - ABCA4_000056 - PubMed: Khan 2019 - - Unknown no - - - - DNA SEQ, MIPsm - - STGD1 ? PubMed: Khan 2019 - - - France - - - - - 1 Stéphanie Cornelis
+/. - c.658C>T r.(?) p.(Arg220Cys) Unknown - pathogenic (recessive) g.94564460G>A - 1:94564460G>A ENST00000370225.3:c.658C>T (Arg220Cys) - ABCA4_000056 - PubMed: Carss 2017 - - Germline - - - - - DNA SEQ-NG - WGS retinal disease W000380 PubMed: Carss 2017 - M - United Kingdom (Great Britain) Europe - - - - 1 LOVD
?/. 6 c.658C>T r.(?) p.(Arg220Cys) Unknown - VUS g.94564460G>A g.94098904G>A c.658C>T p.Arg220Cys - ABCA4_000056 no segregation analysis done PubMed: Cideciyan 2015 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease 68 PubMed: Cideciyan 2015 - M ? - - - - - - 1 Stéphanie Cornelis
?/. 6 c.658C>T r.(?) p.(Arg220Cys) Unknown - VUS g.94564460G>A g.94098904G>A c.658C>T (p.Arg220Cys) - ABCA4_000056 no segregation analysis done PubMed: Zernant 2017 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease 3082 PubMed: Zernant 2017 - - ? United States - - - - - 1 Stéphanie Cornelis
?/. 6 c.658C>T r.(?) p.(Arg220Cys) Unknown - VUS g.94564460G>A g.94098904G>A p.Arg220Cys - ABCA4_000056 no variant 2nd chromosome PubMed: Zhao 2018 - - Unknown - - - - - DNA SEQ-NG - - retinal disease Unknown 603 PubMed: Zhao 2018 mutations were not reported per patient; these 33 mutations were present in 14 patients - ? United States - - - - - 1 Stéphanie Cornelis
?/. 6 c.658C>T r.(?) p.(Arg220Cys) Unknown - VUS g.94564460G>A g.94098904G>A c.658C>T p.Arg220Cys - ABCA4_000056 - PubMed: Smaragda 2018 - - Unknown - - - - - DNA MLPA, PE, SEQ - APEX retinal disease ABCA4-35A PubMed: Smaragda 2018 - M ? Greece - - - - - 1 Stéphanie Cornelis
?/. 6 c.658C>T r.(?) p.(Arg220Cys) Unknown - VUS g.94564460G>A g.94098904G>A c.658C>T, p.Arg220Cys - ABCA4_000056 - PubMed: Fujinami 2019 - - Unknown - - - - - DNA SEQ-NG - SEQ-NG (143 cases), APEX (44 cases), SSCP (24 cases), SEQ (134) retinal disease 14035 PubMed: Fujinami 2019 191 F, 154 M in this study - ? United Kingdom (Great Britain) - - - - - 1 Stéphanie Cornelis
?/. 6 c.658C>T r.(?) p.(Arg220Cys) Unknown - VUS g.94564460G>A g.94098904G>A c.658C>T, p.Arg220Cys - ABCA4_000056 - PubMed: Fujinami 2019 - - Unknown - - - - - DNA SEQ-NG - SEQ-NG (143 cases), APEX (44 cases), SSCP (24 cases), SEQ (134) retinal disease 16016 PubMed: Fujinami 2019 191 F, 154 M in this study - ? United States - - - - - 1 Stéphanie Cornelis
?/. 6 c.658C>T r.(?) p.(Arg220Cys) Unknown - VUS g.94564460G>A g.94098904G>A c.658C>T p.Arg220Cys - ABCA4_000056 no segregation analysis done PubMed: Salles 2018 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease 37 PubMed: Salles 2018 - F ? Brazil - - - - - 1 Stéphanie Cornelis
?/. 6 c.658C>T r.(?) p.(Arg220Cys) Unknown - VUS g.94564460G>A g.94098904G>A ENST00000370225.3:c.658C>T p.Arg220Cys 0/1 - ABCA4_000056 - PubMed: Carss 2017 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease W000380 PubMed: Carss 2017 - M ? England white - - - - 1 Stéphanie Cornelis
?/. 6 c.658C>T r.(?) p.(Arg220Cys) Unknown - VUS g.94564460G>A g.94098904G>A c.658C>T, p.Arg220Cys Heterozygous - ABCA4_000056 - PubMed: Goetz 2020 - - Unknown - - - - - DNA SEQ-NG-I - solid state SBS retinal disease 1434-2002 PubMed: Goetz 2020 - - ? - - - - - - 1 Stéphanie Cornelis
?/. 6 c.658C>T r.(?) p.(Arg220Cys) Unknown - VUS g.94564460G>A g.94098904G>A c.658C>T, p.Arg220Cys Heterozygous - ABCA4_000056 - PubMed: Goetz 2020 - - Unknown - - - - - DNA SEQ - - retinal disease 3313-4056 PubMed: Goetz 2020 - - ? - - - - - - 1 Stéphanie Cornelis
+?/. - c.658C>T r.(?) p.(Arg220Cys) Unknown - likely pathogenic g.94564460G>A g.94098904G>A ABCA4 c.658C>T, p.Arg220Cys - ABCA4_000056 heterozygous PubMed: Turro 2020 - - Germline/De novo (untested) ? - - - - DNA SEQ-NG-I blood whole genome sequencing retinal disease W000380 PubMed: Turro 2020 only individuals with mutations in retinal disease genes from this publication were inserted into LOVD ? - - - - - - - 1 LOVD
?/. 6 c.658C>T r.(?) p.(Arg220Cys) Unknown - VUS g.94564460G>A - c.658C>T - ABCA4_000056 - PubMed: Khan 2020 - - Unknown ? - - - - DNA MIPsm - smMIPs-based complete ABCA4 gene retinal disease 67253 PubMed: Khan 2019PubMed: Khan 2020 - M - France - - - - - 1 LOVD
+?/. - c.658C>T r.(?) p.(Arg220Cys) Parent #1 - likely pathogenic (recessive) g.94564460G>A g.94098904G>A - - ABCA4_000056 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Germline yes - - - - DNA DHPLC, SEQ - - retinal disease L-0745 PubMed: Cornelis 2024, Journal: Cornelis 2024 - F - France - - - - - 1 Frans Cremers
+?/. - c.658C>T r.(?) p.(Arg220Cys) Unknown - likely pathogenic (recessive) g.94564460G>A g.94098904G>A - - ABCA4_000056 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Germline/De novo (untested) - - - - - DNA SEQ - - retinal disease MEH-mild-89 PubMed: Cornelis 2024, Journal: Cornelis 2024 - F - United Kingdom (Great Britain) - - - - - 1 Stéphanie Cornelis
+?/. - c.658C>T r.(?) p.(Arg220Cys) Unknown - likely pathogenic (recessive) g.94564460G>A g.94098904G>A - - ABCA4_000056 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Germline/De novo (untested) - - - - - DNA SEQ - - retinal disease MEH-mild-168 PubMed: Cornelis 2024, Journal: Cornelis 2024 - M - United Kingdom (Great Britain) - - - - - 1 Stéphanie Cornelis
+?/. - c.658C>T r.(?) p.(Arg220Cys) Unknown - likely pathogenic g.94564460G>A - ABCA4(NM_000350.3):c.658C>T (p.R220C) - ABCA4_000056 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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