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     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age at death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
+/. 19i_22i c.(2918+1_2919-1)_(3328+1_3329-1)del r.(del) p.(Ser974Glnfs*64) Parent #1 - pathogenic g.(94506959_94508316)_(94510301_94512474)del g.(94041403_94042760)_(94044745_94046918)del - - ABCA4_000041 - PubMed: Bax 2014 - - Germline - - - - - DNA SEQ - - STGD - PubMed: Bax 2015 2-generation family, 1 affected, unaffected parents F no Netherlands - - - - - 1 Nathalie Bax
+/. 19i_22i c.(2918+1_2919-1)_(3328+1_3329-1)del r.(del) p.(Ser974Glnfs*64) Paternal (confirmed) - pathogenic g.(94506959_94508316)_(94510301_94512474)del g.(94041403_94042760)_(94044745_94046918)del - - ABCA4_000041 - PubMed: Bax 2014 - - Germline - - - - - DNA SEQ - - STGD - PubMed: Bax 2015 4-generation family, 3 affecteds, 6 unaffected heterozygous carriers, patient AIV2 F no Netherlands - - - - - 1 Nathalie Bax
+/. 19i_22i c.(2918+1_2919-1)_(3328+1_3329-1)del r.(del) p.(Ser974Glnfs*64) Paternal (confirmed) - pathogenic g.(94506959_94508316)_(94510301_94512474)del g.(94041403_94042760)_(94044745_94046918)del - - ABCA4_000041 - PubMed: Bax 2014 - - Germline - - - - - DNA SEQ - - CORD - PubMed: Bax 2015 patient AIV1 M no Netherlands - - - - - 1 Nathalie Bax
+/. 19i_22i c.(2918+1_2919-1)_(3328+1_3329-1)del r.(del) p.(Ser974Glnfs*64) Paternal (confirmed) - pathogenic g.(94506959_94508316)_(94510301_94512474)del g.(94041403_94042760)_(94044745_94046918)del - - ABCA4_000041 unknown variant on 2nd chromosome PubMed: Bax 2014 - - Germline - - - - - DNA SEQ - - STGD - PubMed: Bax 2015 patient AIII3 M - Netherlands - - - - - 1 Nathalie Bax
+?/. 19i_22i c.(2918+1_2919-1)_(3328+1_3329-1)del r.(?) p.(Ser974Glnfs*64) Unknown - likely pathogenic g.(94506959_94508316)_(94510301_94512474)del g.(94041403_94042760)_(94044745_94046918)del c.2919-?_3328+?del - ABCA4_000041 - PubMed: Lambertus 2015 - - Germline ? - - - - DNA PE, MLPA, SEQ - APEX STGD1 - PubMed: Lambertus 2015 - ? ? Netherlands ? - - - - 1 Stéphanie Cornelis
+/. 19i_22i c.(2918+1_2919-1)_(3328+1_3329-1)del r.(?) p.(Ser974Glnfs*64) Unknown - pathogenic g.(94506959_94508316)_(94510301_94512474)del g.(94041403_94042760)_(94044745_94046918)del c.2919-?_3328+?del - ABCA4_000041 - PubMed: Lambertus 2015 - - Germline ? - - - - DNA PE, MLPA, SEQ - APEX STGD1 - PubMed: Lambertus 2015 - ? ? Netherlands ? - - - - 1 Stéphanie Cornelis
+/. 19i_22i c.(2918+1_2919-1)_(3328+1_3329-1)del r.(del) p.(Ser974Glnfs*64) Paternal (confirmed) - pathogenic g.(94506959_94508316)_(94510301_94512474)del g.(94041403_94042760)_(94044745_94046918)del E20-22deletion - ABCA4_000041 - PubMed: Müller 2015 - - Germline - - - - - DNA SEQ - - ? - PubMed: Müller 2015 ? ? ? Germany white - - - - 1 Stéphanie Cornelis
+/. 19i_22i c.(2918+1_2919-1)_(3328+1_3329-1)del r.(2919_3328del) p.? Parent #1 ACMG pathogenic (recessive) g.(94506959_94508316)_(94510301_94512474)del g.(94041403_94042760)_(94044745_94046918)del c.2919-?_3328+?del - ABCA4_000041 - PubMed: Cornelis 2017, Journal: Cornelis 2017, Journal: Cornelis 2023 - - SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
+/. 19i_22i c.(2918+1_2919-1)_(3328+1_3329-1)del r.(?) p.(Ser974Glnfs*64) Parent #1 - pathogenic (recessive) g.(94506959_94508316)_(94510301_94512474)del g.(94041403_94042760)_(94044745_94046918)del - - ABCA4_000041 - PubMed: Runhart 2018 - - Germline - - - - - DNA PCRh, SEQ-NG - - STGD1 FamHPatII3 PubMed: Runhart 2018 - - - - - - - - - 1 Stéphanie Cornelis
+/. 19i_22i c.(2918+1_2919-1)_(3328+1_3329-1)del r.? p.? Parent #1 - pathogenic (recessive) g.(94506959_94508316)_(94510301_94512474)del g.(94041403_94042760)_(94044745_94046918)del del ex20-22 - ABCA4_000041 - PubMed: Birtel 2018 - - Germline - - - - - DNA SEQ - - retinal disease Pat51 PubMed: Birtel 2018 patient F - Germany - - - - - 1 LOVD
+/. 19i_22i c.(2918+1_2919-1)_(3328+1_3329-1)del r.(?) p.(Ser974Glnfs*64) Unknown - pathogenic (recessive) g.(94506959_94508316)_(94510301_94512474)del g.(94041403_94042760)_(94044745_94046918)del p.(?) - ABCA4_000041 - PubMed: Birtel 2018 - - Unknown - - - - - DNA SEQ - - retinal disease 51 PubMed: Birtel 2018 - F no Germany - - - - - 1 Stéphanie Cornelis
+?/. 19i_22i c.(2918+1_2919-1)_(3328+1_3329-1)del r.(?) p.(?) Unknown - likely pathogenic (recessive) g.(94506959_94508316)_(94510301_94512474)del g.(94041403_94042760)_(94044745_94046918)del c.3033-?_3364+?del p.(?) - ABCA4_000041 - PubMed: Lambertus 2016 - - Unknown - - - - - DNA ? - - retinal disease 11 PubMed: Lambertus 2016 50% of patients were M and 50% F - ? Netherlands - - - - - 1 Stéphanie Cornelis
+?/. 19i_22i c.(2918+1_2919-1)_(3328+1_3329-1)del r.(?) p.(?) Unknown - likely pathogenic (recessive) g.(94506959_94508316)_(94510301_94512474)del g.(94041403_94042760)_(94044745_94046918)del c.3033-?_3364+?del p.(?) - ABCA4_000041 - PubMed: Lambertus 2016 - - Unknown - - - - - DNA ? - - retinal disease 58 PubMed: Lambertus 2016 50% of patients were M and 50% F - ? Netherlands - - - - - 1 Stéphanie Cornelis
+/. 19i_22i c.(2918+1_2919-1)_(3328+1_3329-1)del r.(?) p.(Ser974Glnfs*64) Unknown - pathogenic (recessive) g.(94506959_94508316)_(94510301_94512474)del g.(94041403_94042760)_(94044745_94046918)del c.3033-?_3364+?del p.(?) - ABCA4_000041 - PubMed: Lambertus 2017 - - Unknown - - - - - DNA ? - - retinal disease Radboudumc 11 PubMed: Lambertus 2017 - M ? Netherlands - - - - - 1 Stéphanie Cornelis
+/. 19i_22i c.(2918+1_2919-1)_(3328+1_3329-1)del r.(?) p.(Ser974Glnfs*64) Unknown - pathogenic (recessive) g.(94506959_94508316)_(94510301_94512474)del g.(94041403_94042760)_(94044745_94046918)del c.3033-?_3364+?del p.(?) - ABCA4_000041 - PubMed: Lambertus 2017 - - Unknown - - - - - DNA ? - - retinal disease Radboudumc 5 PubMed: Lambertus 2017 - M ? Netherlands - - - - - 1 Stéphanie Cornelis
+/. 19i_22i c.(2918+1_2919-1)_(3328+1_3329-1)del r.(?) p.(Ser974Glnfs*64) Unknown - pathogenic (recessive) g.(94506959_94508316)_(94510301_94512474)del g.(94041403_94042760)_(94044745_94046918)del het Deletion_of_exons_20-22 putative_loss_of_function - ABCA4_000041 - PubMed: Gliem 2020 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease 51 PubMed: Gliem 2020 - F ? Germany - - - - - 1 Stéphanie Cornelis
+/. 19i_22i c.(2918+1_2919-1)_(3328+1_3329-1)del r.(?) p.(Ser974Glnfs*64) Unknown - pathogenic (recessive) g.(94506959_94508316)_(94510301_94512474)del g.(94041403_94042760)_(94044745_94046918)del het Deletion_of_exons-20-22 putative_loss_of_function - ABCA4_000041 - PubMed: Gliem 2020 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease 94 PubMed: Gliem 2020 - M ? Germany - - - - - 1 Stéphanie Cornelis
+/. 19i_22i c.(2918+1_2919-1)_(3328+1_3329-1)del r.(?) p.(Ser974Glnfs*64) Unknown - pathogenic (recessive) g.(94506959_94508316)_(94510301_94512474)del g.(94041403_94042760)_(94044745_94046918)del x20-22 Deletion CNV het - ABCA4_000041 - Prevention Genetics - - Unknown - - - - - DNA SEQ-NG - STGDMD panel retinal disease 2019-168-143 Prevention Genetics - - ? - Middle East - - - - 1 Stéphanie Cornelis
+/. 19i_22i c.(2918+1_2919-1)_(3328+1_3329-1)del r.(?) p.(Ser974Glnfs*64) Unknown - pathogenic (recessive) g.(94506959_94508316)_(94510301_94512474)del g.(94041403_94042760)_(94044745_94046918)del c.2919-?_3328+?del p.(Ser974Glnfs*64) - ABCA4_000041 - PubMed: Bax 2019 - - Unknown - - - - - DNA PE, SEQ - APEX retinal disease 11 PubMed: Bax 2019 - M ? Netherlands - - - - - 1 Stéphanie Cornelis
+/. 19i_22i c.(2918+1_2919-1)_(3328+1_3329-1)del r.(?) p.(Ser974Glnfs*64) Unknown - pathogenic (recessive) g.(94506959_94508316)_(94510301_94512474)del g.(94041403_94042760)_(94044745_94046918)del c.2919?_+3328+?del p.(Ser974Glnfs*64) - ABCA4_000041 - PubMed: Bax 2019 - - Unknown - - - - - DNA PE, SEQ - APEX retinal disease 21 PubMed: Bax 2019 - F ? Netherlands - - - - - 1 Stéphanie Cornelis
+/. 19i_22i c.(2918+1_2919-1)_(3328+1_3329-1)del r.(?) p.(Ser974Glnfs*64) Unknown - pathogenic (recessive) g.(94506959_94508316)_(94510301_94512474)del g.(94041403_94042760)_(94044745_94046918)del c.3033-?_3364+?del p.(?) - ABCA4_000041 - PubMed: Bax 2019 - - Unknown - - - - - DNA PE, SEQ - APEX retinal disease 24 PubMed: Bax 2019 sibling of patient 25 M ? Netherlands - - - - - 1 Stéphanie Cornelis
+/. 19i_22i c.(2918+1_2919-1)_(3328+1_3329-1)del r.(?) p.(Ser974Glnfs*64) Unknown - pathogenic (recessive) g.(94506959_94508316)_(94510301_94512474)del g.(94041403_94042760)_(94044745_94046918)del c.3033-?_3364+?del p.(?) - ABCA4_000041 - PubMed: Bax 2019 - - Unknown - - - - - DNA PE, SEQ - APEX retinal disease 25 PubMed: Bax 2019 sibling of patient 24 F ? Netherlands - - - - - 1 Stéphanie Cornelis
+/. 19i_22i c.(2918+1_2919-1)_(3328+1_3329-1)del r.(?) p.(Ser974Glnfs*64) Unknown - pathogenic (recessive) g.(94506959_94508316)_(94510301_94512474)del g.(94041403_94042760)_(94044745_94046918)del c.2919-?_3328+?del p.(Ser974Glnfs*64) - ABCA4_000041 - PubMed: Valkenburg 2019 - - Unknown - - - - - DNA ? - - retinal disease P20 PubMed: Valkenburg 2019 Sibling of P21 M ? Netherlands - - - - - 1 Stéphanie Cornelis
+/. 19i_22i c.(2918+1_2919-1)_(3328+1_3329-1)del r.(?) p.(Ser974Glnfs*64) Unknown - pathogenic (recessive) g.(94506959_94508316)_(94510301_94512474)del g.(94041403_94042760)_(94044745_94046918)del c.2919-?_3328+?del p.(Ser974Glnfs*64) - ABCA4_000041 - PubMed: Valkenburg 2019 - - Unknown - - - - - DNA ? - - retinal disease P21 PubMed: Valkenburg 2019 Sibling of P20 F ? Netherlands - - - - - 1 Stéphanie Cornelis
+/. 19i_22i c.(2918+1_2919-1)_(3328+1_3329-1)del r.? p.? Parent #1 - pathogenic (recessive) g.(94506959_94508316)_(94510301_94512474)del g.(94041403_94042760)_(94044745_94046918)del - - ABCA4_000041 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Germline yes - - - - DNA SEQ-NG - - retinal disease L-0202 PubMed: Cornelis 2024, Journal: Cornelis 2024 - M - France - - - - - 1 Frans Cremers
+/. 19i_22i c.(2918+1_2919-1)_(3328+1_3329-1)del r.? p.? Parent #1 - pathogenic (recessive) g.(94506959_94508316)_(94510301_94512474)del g.(94041403_94042760)_(94044745_94046918)del - - ABCA4_000041 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Germline yes - - - - DNA SEQ - - retinal disease L-0203 PubMed: Cornelis 2024, Journal: Cornelis 2024 - M - France - - - - - 1 Frans Cremers
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