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.

39 entries on 1 page. Showing entries 1 - 39.
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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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Population     

Age at death     

VIP     

Data_av     

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Owner     
+?/. 16 c.2385C>G r.(?) p.(Ser795Arg) Parent #1 - likely pathogenic g.94520869G>C - 2385C>G (S795R) - ABCA4_000729 - PubMed: Downs 2007 - - Germline - - - - - DNA SEQ blood - retinal disease - PubMed: Downs 2007 - - - - - - - - - 1 Julia Lopez
+?/. 16 c.2385C>G r.(?) p.(Ser795Arg) Unknown - likely pathogenic (recessive) g.94520869G>C g.94055313G>C 2385C?G S795R - ABCA4_000729 no variant 2nd chromosome PubMed: Downs 2007 - - Unknown - - - - - DNA SEQ - - retinal disease Unknown 33 PubMed: Downs 2007 - - ? United States - - - - - 1 Stéphanie Cornelis
+?/. 16 c.2385C>G r.(?) p.(Ser795Arg) Unknown - likely pathogenic (recessive) g.94520869G>C g.94055313G>C c.2385C>G, p.Ser795Arg Heterozygous - ABCA4_000729 - PubMed: Goetz 2020 - - Unknown - - - - - DNA SEQ - - retinal disease 3929-4787 PubMed: Goetz 2020 - - ? - - - - - - 1 Stéphanie Cornelis
+?/. 16 c.2385C>G r.(?) p.(Ser795Arg) Unknown - likely pathogenic (recessive) g.94520869G>C g.94055313G>C c.2385C>G, p.Ser795Arg Heterozygous - ABCA4_000729 - PubMed: Goetz 2020 - - Unknown - - - - - DNA SEQ - - retinal disease 639-1154 PubMed: Goetz 2020 - - ? - - - - - - 1 Stéphanie Cornelis
+?/. 16 c.2385C>G r.(?) p.(Ser795Arg) Parent #2 - likely pathogenic (recessive) g.94520869G>C g.94055313G>C c.2385C>G (p.Ser795Arg) - ABCA4_000729 - PubMed: Zernant 2017 - - Unknown yes - - - - DNA SEQ-NG-I - - retinal disease 3182 PubMed: Zernant 2017 - - ? United States - - - - - 1 Stéphanie Cornelis
+?/. 16 c.2385C>G r.(?) p.(Ser795Arg) Unknown - likely pathogenic (recessive) g.94520869G>C g.94055313G>C c.2385C.G p.Ser795Arg - ABCA4_000729 - PubMed: Tanna 2019 - - Unknown - - - - - DNA ? - - retinal disease P29 PubMed: Tanna 2019 - M ? - - - - - - 1 Stéphanie Cornelis
+?/. 16 c.2385C>G r.spl? p.(Ser795Arg) Unknown ACMG likely pathogenic g.94520869G>C g.94055313G>C - - ABCA4_000729 ACMG PS4, PM3, PP3; severity category severe Journal: Cornelis 2023 - - SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 16 c.2401G>A r.(?) p.(Ala801Thr) Unknown - likely pathogenic g.94520853C>T g.94055297C>T c.2401G>A - ABCA4_000729 - PubMed: Zernant 2011 - - Germline ? - - - - DNA PE, SEQ-NG, SEQ - APEX ? - PubMed: Zernant 2011 - ? ? - ? - - - - 1 Stéphanie Cornelis
+/. 16 c.2401G>A r.(2401g>a) p.(Ala801Thr) Parent #1 ACMG pathogenic (recessive) g.94520853C>T g.94055297C>T - - ABCA4_000729 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 - - - - - - - - - - - - - - - - - - - - - - -
+?/. 16 c.2401G>A r.(?) p.(Ala801Thr) Parent #2 - likely pathogenic g.94520853C>T g.94055297C>T - - ABCA4_000729 - PubMed: Khan 2019 - - Unknown no - - - - DNA SEQ, MIPsm - - STGD1 ? PubMed: Khan 2019 - - - France - - - - - 1 Stéphanie Cornelis
+/. 16 c.2401G>A r.(?) p.(Ala801Thr) Parent #1 - pathogenic (recessive) g.94520853C>T g.94055297C>T - - ABCA4_000729 - PubMed: Birtel 2018 - - Germline - - - - - DNA SEQ - - retinal disease Pat16 PubMed: Birtel 2018 family F - Germany - - - - - 1 LOVD
+/. 16 c.2401G>A r.(?) p.(Ala801Thr) Parent #1 - pathogenic (recessive) g.94520853C>T g.94055297C>T - - ABCA4_000729 - PubMed: Birtel 2018 - - Germline - - - - - DNA SEQ-NG - - retinal disease Pat26 PubMed: Birtel 2018 patient F - Germany - - - - - 1 LOVD
+?/. - c.2401G>A r.(?) p.(Ala801Thr) Parent #2 - likely pathogenic g.94520853C>T g.94055297C>T - - ABCA4_000729 - PubMed: Stone 2017 - - Germline - - - - - DNA SEQ-NG - - retinal disease 797 PubMed: Stone 2017 1 affected M - (United States) - - - - - 1 LOVD
+/. - c.2401G>A r.(?) p.(Ala801Thr) Parent #2 - pathogenic (recessive) g.94520853C>T g.94055297C>T - - ABCA4_000729 - PubMed: Tiwari 2016 - - Germline - - - - - DNA SEQ-NG - WES retinal disease Case71876 PubMed: Tiwari 2016 see paper F - Switzerland - - - - - 1 LOVD
+?/. 16 c.2401G>A r.(?) p.(Ala801Thr) Parent #1 - likely pathogenic g.94520853C>T - 2401G>A (A801T) - ABCA4_000729 - PubMed: Downs 2007 - - Germline - - - - - DNA SEQ blood - retinal disease - PubMed: Downs 2007 - - - - - - - - - 1 Julia Lopez
?/. 16 c.2401G>A r.(?) p.(Ala801Thr) Unknown - VUS g.94520853C>T g.94055297C>T p.Ala801Thr - ABCA4_000729 - PubMed: Birtel 2018 - - Unknown - - - - - DNA SEQ - - retinal disease 16 PubMed: Birtel 2018 - F ? Germany - - - - - 1 Stéphanie Cornelis
?/. 16 c.2401G>A r.(?) p.(Ala801Thr) Unknown - VUS g.94520853C>T g.94055297C>T p.Ala801Thr - ABCA4_000729 - PubMed: Birtel 2018 - - Unknown - - - - - DNA SEQ-NG - - retinal disease 26 PubMed: Birtel 2018 - F no Germany - - - - - 1 Stéphanie Cornelis
?/. 16 c.2401G>A r.(?) p.(Ala801Thr) Unknown - VUS g.94520853C>T g.94055297C>T 2401G? A A801T - ABCA4_000729 no variant 2nd chromosome PubMed: Downs 2007 - - Unknown - - - - - DNA SEQ - - retinal disease Unknown 34 PubMed: Downs 2007 - - ? United States - - - - - 1 Stéphanie Cornelis
?/. 16 c.2401G>A r.(?) p.(Ala801Thr) Parent #1 - VUS g.94520853C>T g.94055297C>T c.2401G>A (p.Ala801Thr) - ABCA4_000729 - PubMed: Zernant 2017 - - Unknown yes - - - - DNA SEQ-NG-I - - retinal disease 3960 PubMed: Zernant 2017 - - ? United States - - - - - 1 Stéphanie Cornelis
?/. 16 c.2401G>A r.(?) p.(Ala801Thr) Unknown - VUS g.94520853C>T g.94055297C>T c.2401G>A, p.Ala801Thr - ABCA4_000729 - PubMed: Fujinami 2019 - - Unknown - - - - - DNA SEQ-NG - SEQ-NG (143 cases), APEX (44 cases), SSCP (24 cases), SEQ (134) retinal disease 12048 PubMed: Fujinami 2019 191 F, 154 M in this study - ? United States - - - - - 1 Stéphanie Cornelis
?/. 16 c.2401G>A r.(?) p.(Ala801Thr) Unknown - VUS g.94520853C>T g.94055297C>T het c.2401G>A p.Ala801Thr - ABCA4_000729 - PubMed: Gliem 2020 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease 64 PubMed: Gliem 2020 - F ? Germany - - - - - 1 Stéphanie Cornelis
?/. 16 c.2401G>A r.(?) p.(Ala801Thr) Unknown - VUS g.94520853C>T g.94055297C>T het c.2401G>A p.Ala801Thr - ABCA4_000729 - PubMed: Gliem 2020 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease 72 PubMed: Gliem 2020 - F ? Germany - - - - - 1 Stéphanie Cornelis
?/. 16 c.2401G>A r.(?) p.(Ala801Thr) Unknown - VUS g.94520853C>T g.94055297C>T c.2401G>A p.(Ala801Thr) - ABCA4_000729 - PubMed: Del Pozo-Valero 2020 - - Germline - - - - - DNA SEQ-NG - - retinal disease MD-0373 PubMed: Del Pozo-Valero 2020 - - ? Spain - - - - - 1 Stéphanie Cornelis
?/. 16 c.2401G>A r.(?) p.(Ala801Thr) Unknown - VUS g.94520853C>T g.94055297C>T c.2401G>A/p.A801T - ABCA4_000729 no segregation analysis done PubMed: Weisschuh 2020 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease 632 PubMed: Weisschuh 2020 - F ? Germany - - - - - 1 Stéphanie Cornelis
?/. 16 c.2401G>A r.(?) p.(Ala801Thr) Unknown - VUS g.94520853C>T g.94055297C>T c.2401G>A, p.Ala801Thr Heterozygous - ABCA4_000729 - PubMed: Goetz 2020 - - Unknown - - - - - DNA SEQ-NG-I - solid state SBS retinal disease 2969-3676 PubMed: Goetz 2020 - - ? - - - - - - 1 Stéphanie Cornelis
?/. 16 c.2401G>A r.(?) p.(Ala801Thr) Unknown - VUS g.94520853C>T g.94055297C>T c.2401G>A Ala801Thr GCA>ACA - ABCA4_000729 no segregation analysis done PubMed: Stone 2017 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease 797 PubMed: Stone 2017 - M ? - - - - - - 1 Stéphanie Cornelis
?/. 16 c.2401G>A r.(?) p.(Ala801Thr) Unknown - VUS g.94520853C>T g.94055297C>T c.2401G>A p.(Ala801Thr) - ABCA4_000729 no segregation analysis done PubMed: Khan 2019 - - Unknown - - - - - DNA SEQ-NG, MIPsm - smMIPs of exons and few intronic regions retinal disease 67150 PubMed: Khan 2019 - - ? France - - - - - 1 Stéphanie Cornelis
?/. 16 c.2401G>A r.(?) p.(Ala801Thr) Unknown - VUS g.94520853C>T g.94055297C>T NM_000350.2:c.2401G>A:p.Ala801Thr - ABCA4_000729 - PubMed: Tiwari 2016 - - Unknown - - - - - DNA SEQ-NG - WES retinal disease 71876 PubMed: Tiwari 2016 - F ? Switzerland - - - - - 1 Stéphanie Cornelis
?/. 16 c.2401G>A r.(?) p.(Ala801Thr) Unknown - VUS g.94520853C>T g.94055297C>T c.2401G>A p.Ala801Thr het - ABCA4_000729 - Prevention Genetics - - Unknown - - - - - DNA SEQ - ABCA4 retinal disease 2015-243-035 Prevention Genetics - - ? - Italian, German, Irish - - - - 1 Stéphanie Cornelis
?/. 16 c.2401G>A r.(?) p.(Ala801Thr) Unknown - VUS g.94520853C>T g.94055297C>T c.2401G>A p.Ala801Thr het - ABCA4_000729 - Prevention Genetics - - Unknown - - - - - DNA SEQ-NG - STGDMD panel retinal disease 2017-272-087 Prevention Genetics - - ? - - - - - - 1 Stéphanie Cornelis
+?/. 16 c.2401G>A r.(?) p.(Ala801Thr) Unknown - likely pathogenic g.94520853C>T - c.2401G>A - ABCA4_000729 - PubMed: Maggi_2021 - - Germline - - - - - DNA SEQ - - retinal disease - PubMed: Maggi_2021 - F - Switzerland - - - - - 1 LOVD
+?/. 16 c.2401G>A r.(?) p.(Ala801Thr) Unknown - likely pathogenic g.94520853C>T - c.2401G>A - ABCA4_000729 - PubMed: Maggi_2021 - - Germline - - - - - DNA SEQ - - retinal disease - PubMed: Maggi_2021 - F - Switzerland - - - - - 1 LOVD
+?/. 16 c.2401G>A r.(?) p.(Ala801Thr) Unknown - likely pathogenic g.94520853C>T - c.2401G>A - ABCA4_000729 - PubMed: Maggi_2021 - - Germline - - - - - DNA SEQ - - retinal disease - PubMed: Maggi_2021 - M - Switzerland - - - - - 1 LOVD
+?/. 16 c.2401G>A r.(?) p.(Ala801Thr) Unknown - likely pathogenic g.94520853C>T - c.2401G>A - ABCA4_000729 - PubMed: Maggi_2021 - - Germline - - - - - DNA SEQ - - retinal disease - PubMed: Maggi_2021 - M - Switzerland - - - - - 1 LOVD
+?/. - c.2401G>A r.(?) p.(Ala801Thr) Unknown ACMG likely pathogenic g.94520853C>T g.94055297C>T ABCA4 c.2401G>A, p.(Ala801Thr) - ABCA4_000729 heterozygous PubMed: Buhler 2021 - - Unknown ? - - - - DNA SEQ-NG-I blood Trusight One retinal disease 8/III.2 PubMed: Buhler 2021 Family 8, individual III.2 ? - Switzerland - - - - - 1 LOVD
+?/. 16 c.2401G>A r.(?) p.(Ala801Thr) Parent #2 - likely pathogenic (recessive) g.94520853C>T - c.2401G>A/p.(Ala801Thr) - ABCA4_000729 - PubMed: Müller 2020 - - Unknown ? - - - - DNA SEQ, MLPA, SEQ-NG - - retinal disease 35 PubMed: Müller 2020 - F ? Germany - - - - - 1 LOVD
+?/. 16 c.2401G>A r.(?) p.(Ala801Thr) Parent #1 - likely pathogenic (recessive) g.94520853C>T - c.2401G>A/p.(Ala801Thr) - ABCA4_000729 - PubMed: Müller 2020 - - Unknown ? - - - - DNA SEQ, MLPA, SEQ-NG - - retinal disease 36 PubMed: Müller 2020 - F ? Germany - - - - - 1 LOVD
+/. - c.2401G>A r.(?) p.(Ala801Thr) Parent #1 - pathogenic (recessive) g.94520853C>T g.94055297C>T - - ABCA4_000729 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Germline yes - - - - DNA MCA, SEQ - - retinal disease L-0893 PubMed: Cornelis 2024, Journal: Cornelis 2024 - M - France - - - - - 1 Frans Cremers
+?/. - c.2401G>A r.(?) p.(Ala801Thr) Unknown ACMG likely pathogenic (recessive) g.94520853C>T g.94055297C>T - - ABCA4_000729 ACMG PP3, PM2, PM1_SUPPORTING, PP2, PP5 PubMed: Weisschuh 2024 631618 - Germline - - - - - DNA SEQ-NG - WGS ? STGD-458 PubMed: Weisschuh 2024 patient, no family history F - Germany - - - - - 1 Johan den Dunnen
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