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.

11 entries on 1 page. Showing entries 1 - 11.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Allele     

Classification method     

Clinical classification     

DNA change (genomic) (hg19)     

DNA change (hg38)     

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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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VIP     

Data_av     

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Panel size     

Owner     
+?/. 44i_47i c.(6147+1_6148-1)_(6479+1_6480-1)del r.(?) P.(?) Unknown - likely pathogenic (recessive) g.(94463667_94466391)_(94467549_94470996)del g.(93998111_94000835)_(94001993_94005440)del g.ABCA4-ex45-47del - ABCA4_002274 no variant 2nd chromosome PubMed: Schorderet 2013 - - Unknown - - - - - DNA SEQ-NG - - retinal disease 9 PubMed: Schorderet 2013 - - ? Switzerland - - - - - 1 Stéphanie Cornelis
+/. 44i_47i c.(6147+1_6148-1)_(6479+1_6480-1)del r.spl? p.? Unknown - pathogenic g.(94463667_94466391)_(94467549_94470996)del g.(93998111_94000835)_(94001993_94005440)del p.ABCA4-ex45-47del - ABCA4_002274 - PubMed: Schorderet-2013 - - Germline yes - - - - DNA SEQ-NG, SEQp blood targeted exon capture/IROme assay retinal disease - PubMed: Schorderet-2013 - - - Switzerland Swiss, Algerian or Tunisian - - - - 1 LOVD
+?/. 44i_47i c.(6147+1_6148-1)_(6479+1_6480-1)del r.? p.? Both (homozygous) - likely pathogenic (recessive) g.(94463667_94466391)_(94467549_94470996)del g.(93998111_94000835)_(94001993_94005440)del - - ABCA4_002274 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Germline yes - - - - DNA SEQ-NG-I - - retinal disease L-0542 PubMed: Cornelis 2024, Journal: Cornelis 2024 - F - France - - - - - 1 Frans Cremers
+?/. 44i_47i c.(6147+1_6148-1)_(6479+1_6480-1)del r.? p.? Both (homozygous) - likely pathogenic (recessive) g.(94463667_94466391)_(94467549_94470996)del g.(93998111_94000835)_(94001993_94005440)del - - ABCA4_002274 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Germline yes - - - - DNA SEQ-NG-I - - retinal disease L-0542 PubMed: Cornelis 2024, Journal: Cornelis 2024 - F - France - - - - - 1 Frans Cremers
+?/. 44i_47i c.(6147+1_6148-1)_(6479+1_6480-1)del r.? p.? Unknown - likely pathogenic (recessive) g.(94463667_94466391)_(94467549_94470996)del g.(93998111_94000835)_(94001993_94005440)del - - ABCA4_002274 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease L-0551 PubMed: Cornelis 2024, Journal: Cornelis 2024 - F - France - - - - - 1 Frans Cremers
+/. 44i_47i c.(6147+1_6148-1)_(6479+1_6480-1)del r.? - Both (homozygous) - pathogenic (!) g.(94463667_94466391)_(94467549_94470996)del g.(93998111_94000835)_(94001993_94005440)del [(?_-4635)_(5714+?)dup;(?_6148)_(6479_+?)del] - ABCA4_002274 note upstream variant duplication ex32-40 PubMed: Falfoul 2018 - - Germline yes - - - - DNA SEQ-NG - WES retinal disease III:3 PubMed: Falfoul 2018 sibling and cousin of the other patients in this family, consanguinous M yes Tunisia Tunisia - - - - 1 Stéphanie Cornelis
+/. 44i_47i c.(6147+1_6148-1)_(6479+1_6480-1)del r.? - Maternal (inferred) - pathogenic (!) g.(94463667_94466391)_(94467549_94470996)del g.(93998111_94000835)_(94001993_94005440)del [(?_-4635)_(5714+?)dup;(?_6148)_(6479_+?)del] - ABCA4_002274 note upstream variant duplication ex32-40 PubMed: Falfoul 2018 - - Germline yes - - - - DNA SEQ-NG - WES retinal disease FamPatIII10 PubMed: Falfoul 2018 sibling and cousin of the other patients in this family, consanguinous M yes Tunisia Tunisia - - - - 1 Stéphanie Cornelis
+/. 44i_47i c.(6147+1_6148-1)_(6479+1_6480-1)del r.? - Maternal (inferred) - pathogenic (!) g.(94463667_94466391)_(94467549_94470996)del g.(93998111_94000835)_(94001993_94005440)del [(?_-4635)_(5714+?)dup;(?_6148)_(6479_+?)del] - ABCA4_002274 note upstream variant duplication ex32-40 PubMed: Falfoul 2018 - - Germline yes - - - - DNA SEQ-NG - WES retinal disease FamPatIII8 PubMed: Falfoul 2018 sibling and cousin of the other patients in this family, consanguinous F yes Tunisia Tunisia - - - - 1 Stéphanie Cornelis
+/. 44i_47i c.(6147+1_6148-1)_(6479+1_6480-1)del r.? - Both (homozygous) - pathogenic (!) g.(94463667_94466391)_(94467549_94470996)del g.(93998111_94000835)_(94001993_94005440)del [(?_-4635)_(5714+?)dup;(?_6148)_(6479_+?)del] - ABCA4_002274 note upstream variant duplication ex32-40 PubMed: Falfoul 2018 - - Germline yes - - - - DNA SEQ-NG - WES retinal disease III:6 PubMed: Falfoul 2018 sibling and cousin of the other patients in this family, consanguinous M yes Tunisia Tunisia - - - - 1 Stéphanie Cornelis
+/. 44i_47i c.(6147+1_6148-1)_(6479+1_6480-1)del r.? - Both (homozygous) - pathogenic (!) g.(94463667_94466391)_(94467549_94470996)del g.(93998111_94000835)_(94001993_94005440)del [(?_-4635)_(5714+?)dup;(?_6148)_(6479_+?)del] - ABCA4_002274 note upstream variant duplication ex32-40 PubMed: Falfoul 2018 - - Germline yes - - - - DNA SEQ-NG - WES retinal disease III:7 PubMed: Falfoul 2018 sibling and cousin of the other patients in this family, consanguinous F yes Tunisia Tunisia - - - - 1 Stéphanie Cornelis
+?/. 44i_47i c.(6147+1_6148-1)_(6479+1_6480-1)del r.? p.? Unknown ACMG likely pathogenic g.(94463667_94466391)_(94467549_94470996)del g.(93998111_94000835)_(94001993_94005440)del c.(?_6148)_(6479_?)del, c.(?_6148-1)_(6479+1_?)del - ABCA4_002274 ACMG PVS1, PM2_sup; severity category not assesed Journal: Cornelis 2023 - - SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
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