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.

17 entries on 1 page. Showing entries 1 - 17.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Allele     

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Clinical classification     

DNA change (genomic) (hg19)     

DNA change (hg38)     

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ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

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Frequency     

Re-site     

VIP     

Methylation     

Template     

Technique     

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Disease     

ID_report     

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Panel size     

Owner     
+?/. 19 c.2827C>T r.(?) p.(Arg943Trp) Maternal (confirmed) - likely pathogenic g.94512566G>A g.94047010G>A CGG > TGG - ABCA4_000693 - PubMed: Briggs 2001 - - Germline - ExAC 6, 121172, 0, 0.00004952 - - - DNA SSCA, SEQ - - STGD1 - PubMed: Briggs 2001 2-generation family, 1 affected F ? - ? - - - - 1 Stéphanie Cornelis
?/. 19 c.2827C>T r.(?) p.(Arg943Trp) Unknown - VUS g.94512566G>A g.94047010G>A 2827C→T - ABCA4_000693 - PubMed: Yatsenko 2001 - - Germline - ExAC 6, 121172, 0, 0.00004952 - - - DNA PCR, SEQ - - STGD1 - PubMed: Yatsenko 2001 2-generation family, 1 affected F ? United States white - - - - 1 Stéphanie Cornelis
?/. 19 c.2827C>T r.(?) p.(Arg943Trp) Unknown - VUS g.94512566G>A g.94047010G>A 2827C→T - ABCA4_000693 - PubMed: Yatsenko 2001 - - Germline - ExAC 6, 121172, 0, 0.00004952 - - - DNA PCR, SEQ - - STGD1 - PubMed: Yatsenko 2001 2-generation family, 5 affected F ? United States white - - - - 1 Stéphanie Cornelis
+?/. 19 c.2827C>T r.(?) p.(Arg943Trp) Paternal (confirmed) - likely pathogenic g.94512566G>A g.94047010G>A 2827C→T - ABCA4_000693 - PubMed: Yatsenko 2001 - - Germline - ExAC 6, 121172, 0, 0.00004952 - - - DNA PCR, SEQ - - STGD1 - PubMed: Yatsenko 2001 2-generation family, 5 affected F ? United States white - - - - 1 Stéphanie Cornelis
+?/. 19 c.2827C>T r.(?) p.(Arg943Trp) Paternal (confirmed) - likely pathogenic g.94512566G>A g.94047010G>A 2827C→T - ABCA4_000693 - PubMed: Yatsenko 2001 - - Germline - ExAC 6, 121172, 0, 0.00004952 - - - DNA PCR, SEQ - - STGD1 - PubMed: Yatsenko 2001 2-generation family, 5 affected M ? United States white - - - - 1 Stéphanie Cornelis
+?/. 19 c.2827C>T r.(2827c>u) p.(Arg943Trp) Parent #1 ACMG likely pathogenic (recessive) g.94512566G>A g.94047010G>A - - ABCA4_000693 - PubMed: Cornelis 2017, Journal: Cornelis 2017, Journal: Cornelis 2023 - - SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.2827C>T r.(?) p.(Arg943Trp) Unknown ACMG likely pathogenic g.94512566G>A - - - ABCA4_000693 - Zixi Sun 2020, submitted - - Germline/De novo (untested) - - - - - DNA SEQ-NG - gene panel STGD 5084 Zixi Sun 2020, submitted - M - China - - - - - 1 Zixi Sun
+?/. 19 c.2827C>T r.(?) p.(Arg943Trp) Unknown - likely pathogenic (recessive) g.94512566G>A g.94047010G>A c.2827C>T - ABCA4_000693 no segregation analysis done PubMed: Sung 2020 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease F27 P31 PubMed: Sung 2020 - - ? - Han - - - - 1 Stéphanie Cornelis
+?/. 19 c.2827C>T r.(?) p.(Arg943Trp) Unknown - likely pathogenic (recessive) g.94512566G>A g.94047010G>A c.2827C>T p.(Arg943Trp) - ABCA4_000693 - PubMed: Sun 2020 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease 5084 PubMed: Sun 2020 - M ? China China - - - - 1 Stéphanie Cornelis
+?/. 19 c.2827C>T r.(?) p.(Arg943Trp) Unknown - likely pathogenic (recessive) g.94512566G>A g.94047010G>A c.2827C>T, p.Arg943Trp Heterozygous - ABCA4_000693 - PubMed: Goetz 2020 - - Unknown - 6, 121172, 0, 0.00004952 - - - DNA SEQ - - retinal disease 344-1724 PubMed: Goetz 2020 - - ? - - - - - - 1 Stéphanie Cornelis
+?/. 19 c.2827C>T r.(?) p.(Arg943Trp) Unknown - likely pathogenic (recessive) g.94512566G>A g.94047010G>A c.2827C>T/p.R943W - ABCA4_000693 no segregation analysis done PubMed: Weisschuh 2020 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease 320 PubMed: Weisschuh 2020 - F ? Germany - - - - - 1 Stéphanie Cornelis
+?/. 19 c.2827C>T r.(?) p.(Arg943Trp) Unknown - likely pathogenic (recessive) g.94512566G>A g.94047010G>A c.2827C>T, p.Arg943Trp Heterozygous - ABCA4_000693 - PubMed: Goetz 2020 - - Unknown - 6, 121172, 0, 0.00004952 - - - DNA SEQ - - retinal disease 344-1724 PubMed: Goetz 2020 - - ? - - - - - - 1 Stéphanie Cornelis
+?/. - c.2827C>T r.(?) p.(Arg943Trp) Unknown ACMG likely pathogenic g.94512566G>A g.94047010G>A ABCA4 c.2827C>T(;)6498C>G, V1: c.2827C>T, (p.Arg943Trp) - ABCA4_000693 alleles in cis or trans; heterozygous PubMed: Chen 2021 - - Unknown ? - - - - DNA SEQ-NG blood 212 inherited retinal disease-related genes retinal disease F280 PubMed: Chen 2021 - ? - Taiwan - - - - - 1 LOVD
+?/. - c.2827C>T r.(?) p.(Arg943Trp) Unknown - likely pathogenic g.94512566G>A g.94047010G>A ABCA4 c.2827C>T(;)6498C>G; p.(Arg943Trp) - ABCA4_000693 heterozygous PubMed: Chen 2021 - - Germline/De novo (untested) ? Taiwan Biobank: 0.000659; GnomAD_exome_East: 0.000544; GnomAD_All: 0.0000795 - - - DNA SEQ-NG - targeted 212 IRD-related genes retinal disease F280 PubMed: Chen 2021 - - - Taiwan - - - - - 1 LOVD
+/. 19 c.2827C>T r.(?) p.(Arg943Trp) Parent #2 - pathogenic g.94512566G>A g.94047010G>A c.[2827C>T;5603A>T] - ABCA4_000693 - PubMed: Huang 2022 - - Germline - - - - - DNA SEQ - - retinal disease Pat34 PubMed: Huang 2022 - - - Australia - - - - - 1 Johan den Dunnen
+?/. - c.2827C>T r.(?) p.(Arg943Trp) Unknown - likely pathogenic (recessive) g.94512566G>A g.94047010G>A - - ABCA4_000693 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Germline/De novo (untested) - - - - - DNA SEQ - - retinal disease MEH-nonmild-317 PubMed: Cornelis 2024, Journal: Cornelis 2024 - M - United Kingdom (Great Britain) - - - - - 1 Stéphanie Cornelis
+?/. - c.2827C>T r.(?) p.(Arg943Trp) Unknown - likely pathogenic (recessive) g.94512566G>A g.94047010G>A - - ABCA4_000693 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Germline/De novo (untested) - - - - - DNA SEQ - - retinal disease MEH-mild-242 PubMed: Cornelis 2024, Journal: Cornelis 2024 - F - United Kingdom (Great Britain) - - - - - 1 Stéphanie Cornelis
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