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.

13 entries on 1 page. Showing entries 1 - 13.
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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     

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Age at death     

VIP     

Data_av     

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Panel size     

Owner     
+?/. 22i c.3329-1G>A r.spl p.? Parent #1 - likely pathogenic g.94506959C>T g.94041403C>T - - ABCA4_001078 unknown variant 2nd allele PubMed: Khan 2019 - - Unknown no - - - - DNA SEQ, MIPsm - - STGD1 ? PubMed: Khan 2019 - - - France - - - - - 1 Stéphanie Cornelis
+/. 22i c.3329-1G>A r.spl p.? Unknown - pathogenic (recessive) g.94506959C>T g.94041403C>T c.IVS22-1G>A, Heterozygous - ABCA4_001078 - PubMed: Goetz 2020 - - Unknown - - - - - DNA SEQ-NG-I - solid state SBS retinal disease 4508-5465 PubMed: Goetz 2020 - - ? - - - - - - 1 Stéphanie Cornelis
+/. 22i c.3329-1G>A r.spl p.? Unknown - pathogenic (recessive) g.94506959C>T g.94041403C>T c.3329-1G>A p.(?) - ABCA4_001078 - PubMed: Khan 2020 - - Unknown yes - - - - DNA SEQ-NG-I - - retinal disease 17478 PubMed: Khan 2020 - F ? United Kingdom (Great Britain) - - - - - 1 Stéphanie Cornelis
+/. 22i c.3329-1G>A r.spl p.(?) Unknown - pathogenic (recessive) g.94506959C>T - c. 3329-1G>A - ABCA4_001078 - PubMed: Khan 2020 - - Unknown - - - - - DNA MIPsm - smMIPs-based complete ABCA4 gene retinal disease 67246 PubMed: Khan 2019PubMed: Khan 2020 - F - France - - - - - 1 LOVD
+?/. 2i c.3329-1G>A r.spl p.? Parent #1 ACMG likely pathogenic (recessive) g.94506959C>T g.94041403C>T - - ABCA4_001078 - PubMed: Corradi 2023, Journal: Corradi 2023 - - Germline - - - - - DNA MIPsm, SEQ-NG - - retinal disease Pat100 PubMed: Corradi 2023, Journal: Corradi 2023 - - - - - - - - - 1 Zelia Corradi
+?/. - c.3329-1G>A r.spl p.? Parent #1 - likely pathogenic (recessive) g.94506959C>T g.94041403C>T - - ABCA4_001078 no variant 2nd chromosome PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Germline yes - - - - DNA SSCA, SEQ - - retinal disease L-0660 PubMed: Cornelis 2024, Journal: Cornelis 2024 - F - France - - - - - 1 Frans Cremers
+?/. - c.3329-1G>A r.spl p.? Parent #1 - likely pathogenic (recessive) g.94506959C>T g.94041403C>T - - ABCA4_001078 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Germline yes - - - - DNA MCA, SEQ - - retinal disease L-0900 PubMed: Cornelis 2024, Journal: Cornelis 2024 - M - France - - - - - 1 Frans Cremers
+?/. - c.3329-1G>A r.spl p.? Parent #1 - likely pathogenic (recessive) g.94506959C>T g.94041403C>T - - ABCA4_001078 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Germline yes - - - - DNA SEQ - - retinal disease L-0944 PubMed: Cornelis 2024, Journal: Cornelis 2024 - F - France - - - - - 1 Frans Cremers
+?/. - c.3329-1G>A r.spl p.? Unknown - likely pathogenic (recessive) g.94506959C>T g.94041403C>T - - ABCA4_001078 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Unknown - - - - - DNA SEQ-NG - - retinal disease L-0163 PubMed: Cornelis 2024, Journal: Cornelis 2024 - F - France - - - - - 1 Frans Cremers
+?/. - c.3329-1G>A r.spl p.? Parent #2 - likely pathogenic (recessive) g.94506959C>T g.94041403C>T - - ABCA4_001078 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Germline yes - - - - DNA SEQ-NG - - retinal disease L-1008 PubMed: Cornelis 2024, Journal: Cornelis 2024 - M - France - - - - - 1 Frans Cremers
+?/. - c.3329-1G>A r.spl p.? Unknown - likely pathogenic (recessive) g.94506959C>T g.94041403C>T - - ABCA4_001078 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Germline/De novo (untested) - - - - - DNA SEQ - - retinal disease MEH-nonmild-150 PubMed: Cornelis 2024, Journal: Cornelis 2024 - F - United Kingdom (Great Britain) - - - - - 1 Stéphanie Cornelis
+?/. - c.3329-1G>A r.spl p.? Unknown - likely pathogenic (recessive) g.94506959C>T g.94041403C>T - - ABCA4_001078 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Germline/De novo (untested) - - - - - DNA SEQ - - retinal disease MEH-mild-198 PubMed: Cornelis 2024, Journal: Cornelis 2024 - M - United Kingdom (Great Britain) - - - - - 1 Stéphanie Cornelis
+?/. 22i c.3329-1G>A r.spl p.? Unknown ACMG likely pathogenic g.94506959C>T g.94041403C>T - - ABCA4_001078 ACMG PVS1_M, PS4, PM3; severity category severe Journal: Cornelis 2023 - - SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
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