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.

14 entries on 1 page. Showing entries 1 - 14.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

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Clinical classification     

DNA change (genomic) (hg19)     

DNA change (hg38)     

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DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

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Methylation     

Template     

Technique     

Tissue     

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Disease     

ID_report     

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Owner     
?/. 10 c.1335C>G r.(?) p.(Ser445Arg) Unknown - VUS g.94544167G>C g.94078611G>C C1335G - ABCA4_000316 - PubMed: Papaioannou 2000 - - Germline - - - - - DNA HD, SEQ - - ? - PubMed: Papaioannou 2000 Possibly combined with one of the other mutations listed mentioned in this paper (PubMed: Papaioannou 2000), because two more compound heterozygous patients are present in this list, but their mutations were not mentioned to belong together. Therefore, these mutations are listed seperately. ? ? United Kingdom (Great Britain) ? - - - - 1 Stéphanie Cornelis
?/. 10 c.1335C>G r.(?) p.(Ser445Arg) Unknown - VUS g.94544167G>C g.94078611G>C 1335C>G - ABCA4_000316 - 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
+?/. 10 c.1335C>G r.(1335c>g) p.(Ser445Arg) Parent #1 ACMG likely pathogenic (recessive) g.94544167G>C g.94078611G>C - - ABCA4_000316 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 - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1335C>G r.(?) p.(Ser445Arg) Unknown - pathogenic (recessive) g.94544167G>C - 1:94544167G>C ENST00000370225.3:c.1335C>G (Ser445Arg) - ABCA4_000316 - PubMed: Carss 2017 - - Germline - - - - - DNA SEQ-NG - WGS retinal disease G008146 PubMed: Carss 2017 - M - United Kingdom (Great Britain) Europe - - - - 1 LOVD
?/. 10 c.1335C>G r.(?) p.(Ser445Arg) Parent #1 - VUS g.94544167G>C g.94078611G>C c.1335C>G - ABCA4_000316 - PubMed: Parker 2016 - - Unknown - - - - - DNA ? - - retinal disease 3 PubMed: Parker 2016 - - ? - - - - - - 1 Stéphanie Cornelis
?/. 10 c.1335C>G r.(?) p.(Ser445Arg) Unknown - VUS g.94544167G>C g.94078611G>C ENST00000370225.3:c.1335C>G p.Ser445Arg 0/1 - ABCA4_000316 - PubMed: Carss 2017 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease G008146 PubMed: Carss 2017 - M ? England white - - - - 1 Stéphanie Cornelis
?/. 10 c.1335C>G r.(?) p.(Ser445Arg) Unknown - VUS g.94544167G>C g.94078611G>C c.1335C>G p.Ser445Arg Het - ABCA4_000316 - Prevention Genetics - - Unknown - - - - - DNA SEQ-NG - IRD panel retinal disease 2017-259-008 Prevention Genetics - - ? - - - - - - 1 Stéphanie Cornelis
+?/. - c.1335C>G r.(?) p.(Ser445Arg) Unknown - likely pathogenic g.94544167G>C g.94078611G>C ABCA4 c.1335C>G, p.Ser445Arg - ABCA4_000316 heterozygous PubMed: Turro 2020 - - Germline/De novo (untested) ? - - - - DNA SEQ-NG-I blood whole genome sequencing retinal disease G008146 PubMed: Turro 2020 only individuals with mutations in retinal disease genes from this publication were inserted into LOVD ? - (United Kingdom (Great Britain)) - - - - - 1 LOVD
+/. - c.1335C>G r.(?) p.(Ser445Arg) Parent #1 - pathogenic g.94544167G>C g.94078611G>C - - ABCA4_000316 - PubMed: Ellingford 2016 - - Germline - - - - - DNA SEQ, SEQ-NG - WGS retinal disease 09006916 PubMed: Ellingford 2016 - - - United Kingdom (Great Britain) - - - - - 1 Johan den Dunnen
+?/. - c.1335C>G r.(?) p.(Ser445Arg) Unknown - likely pathogenic (recessive) g.94544167G>C g.94078611G>C - - ABCA4_000316 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Germline/De novo (untested) - - - - - DNA SEQ - - retinal disease MEH-nonmild-64 PubMed: Cornelis 2024, Journal: Cornelis 2024 - F - United Kingdom (Great Britain) - - - - - 1 Stéphanie Cornelis
+?/. - c.1335C>G r.(?) p.(Ser445Arg) Unknown - likely pathogenic (recessive) g.94544167G>C g.94078611G>C - - ABCA4_000316 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Germline/De novo (untested) - - - - - DNA SEQ - - retinal disease MEH-nonmild-72 PubMed: Cornelis 2024, Journal: Cornelis 2024 - M - United Kingdom (Great Britain) - - - - - 1 Stéphanie Cornelis
+?/. - c.1335C>G r.(?) p.(Ser445Arg) Unknown - likely pathogenic (recessive) g.94544167G>C g.94078611G>C - - ABCA4_000316 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Germline/De novo (untested) - - - - - DNA SEQ - - retinal disease MEH-nonmild-155 PubMed: Cornelis 2024, Journal: Cornelis 2024 - F - United Kingdom (Great Britain) - - - - - 1 Stéphanie Cornelis
+?/. - c.1335C>G r.(?) p.(Ser445Arg) Unknown - likely pathogenic (recessive) g.94544167G>C g.94078611G>C - - ABCA4_000316 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Germline/De novo (untested) - - - - - DNA SEQ - - retinal disease MEH-nonmild-315 PubMed: Cornelis 2024, Journal: Cornelis 2024 - F - United Kingdom (Great Britain) - - - - - 1 Stéphanie Cornelis
+?/. - c.1335C>G r.(?) p.(Ser445Arg) Unknown - likely pathogenic (recessive) g.94544167G>C g.94078611G>C - - ABCA4_000316 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Germline/De novo (untested) - - - - - DNA SEQ - - retinal disease MEH-other-87 PubMed: Cornelis 2024, Journal: Cornelis 2024 - M - United Kingdom (Great Britain) - - - - - 1 Stéphanie Cornelis
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