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.

37 entries on 1 page. Showing entries 1 - 37.
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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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Owner     
+/. 33i c.4773+3A>G r.spl p.? Paternal (confirmed) - pathogenic g.94487399T>C g.94021843T>C - - ABCA4_000038 - PubMed: Braun 2013 - - Germline yes - - - - DNA, RNA RT-PCR, SEQ - - STGD - PubMed: Braun 2013 2-generation family, 3 affecteds, unaffected carrier parents/sib - no United States - - - - - 3 Johan den Dunnen
+/. 33i c.4773+3A>G r.spl p.? Maternal (confirmed) - pathogenic g.94487399T>C g.94021843T>C - - ABCA4_000038 - PubMed: Braun 2013 - - Germline yes - - - - DNA SEQ - - STGD - PubMed: Braun 2013 2-generation family, 1 affected, unaffected carrier parents M no United States - - - - - 1 Johan den Dunnen
+/. 33i c.4773+3A>G r.spl p.? Maternal (confirmed) - pathogenic g.94487399T>C g.94021843T>C - - ABCA4_000038 - PubMed: Braun 2013 - - Germline yes - - - - DNA SEQ - - STGD - PubMed: Braun 2013 2-generation family, 1 affected, unaffected carrier parents F no United States - - - - - 1 Johan den Dunnen
-?/. 33i c.4773+3A>G r.spl? p.(?) Unknown - likely benign g.94487399T>C g.94021843T>C c.4773+3A>G - ABCA4_000038 - PubMed: Duno 2012 - - Germline ? 14, 121126, 0, 0.0001156 - - - DNA MLPA, PE, MCA, PCR, SEQ - APEX RD - PubMed: Duno 2012 - ? ? Denmark Scandinavian - - - - 1 Stéphanie Cornelis
+?/. 33i c.4773+3A>G r.spl? p.(?) Unknown - likely pathogenic g.94487399T>C g.94021843T>C c.4773+3A>G - ABCA4_000038 - PubMed: Jonsson 2013 - - Germline - 14, 121126, 0, 0.0001156 - - - DNA PE, arraySNP, PCR, SEQ - APEX ? - PubMed: Jonsson 2013 Also c.4203C>A was identified M yes Sweden Jämtland - - - - 1 Stéphanie Cornelis
?/. 33i c.4773+3A>G r.spl? p.(?) Unknown - VUS g.94487399T>C g.94021843T>C c.4773+3A>G - ABCA4_000038 - PubMed: Miraldi 2014 - - Germline ? 14, 121126, 0, 0.0001156 - - - DNA PCR, PE, SEQ - APEX STGD1 - PubMed: Miraldi 2014 - ? ? - ? - - - - 1 Stéphanie Cornelis
+/. 33i c.4773+3A>G r.[4668_4773del,=] p.[Tyr1557AlafsTer18,=] Parent #1 ACMG pathogenic (recessive) g.94487399T>C g.94021843T>C - - ABCA4_000038 - PubMed: Cornelis 2017, Journal: Cornelis 2017, Journal: Cornelis 2023 - - SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
+/. 33i c.4773+3A>G r.[4668_4773del,=] p.[(Tyr1557Alafs∗18,=)] Unknown - NA g.94487399T>C g.94021843T>C - - ABCA4_000038 expression cloning midigene splicing construct: 0.246 correctly spliced RNA PubMed: Sangermano 2018 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
+?/. 33i c.4773+3A>G r.spl? p.? Parent #1 - likely pathogenic g.94487399T>C g.94021843T>C - - ABCA4_000038 - PubMed: Khan 2019 - - Unknown no - - - - DNA SEQ, MIPsm - - STGD1 ? PubMed: Khan 2019 - - - France - - - - - 1 Stéphanie Cornelis
+?/. - c.4773+3A>G r.spl p.? Parent #1 - likely pathogenic (recessive) g.94487399T>C g.94021843T>C - - ABCA4_000038 - PubMed: Holtan 2020 - - Germline - 1/899 cases - - - DNA SEQ - - retinal disease - PubMed: Holtan 2020 1 patient with variant in heterozygous or compound heterozygous form - - Norway - - - - - 1 Global Variome, with Curator vacancy
+/. 33i c.4773+3A>G r.spl p.? Parent #1 - pathogenic (recessive) g.94487399T>C g.94021843T>C - - ABCA4_000038 - PubMed: Birtel 2018 - - Germline - - - - - DNA SEQ-NG - - retinal disease Pat93 PubMed: Birtel 2018 patient M - Germany - - - - - 1 LOVD
+?/. - c.4773+3A>G r.spl p.? Parent #2 - likely pathogenic g.94487399T>C g.94021843T>C IVS33+3A>G - ABCA4_000038 - PubMed: Stone 2017 - - Germline - - - - - DNA SEQ-NG - - retinal disease 670 PubMed: Stone 2017 family, 4 affected M - (United States) - - - - - 4 LOVD
+?/. 33i c.4773+3A>G r.[4668_4773del,=] p.[Tyr1557Alafs*18,=] Unknown - likely pathogenic (recessive) g.94487399T>C g.94021843T>C p.(?) - ABCA4_000038 - PubMed: Birtel 2018 - - Unknown - - - - - DNA SEQ-NG - - retinal disease 93 PubMed: Birtel 2018 - M no Germany - - - - - 1 Stéphanie Cornelis
+?/. 33i c.4773+3A>G r.[4668_4773del,=] p.[Tyr1557Alafs*18,=] Maternal (confirmed) - likely pathogenic (recessive) g.94487399T>C g.94021843T>C c. 4773+3A>G - ABCA4_000038 - PubMed: Jonsson 2014 - - Unknown yes - - - - DNA PE, SEQ - APEX retinal disease V:4 PubMed: Jonsson 2014 granduncle of case VI:10 M no Sweden Sweden - - - - 1 Stéphanie Cornelis
+?/. 33i c.4773+3A>G r.[4668_4773del,=] p.[Tyr1557Alafs*18,=] Unknown - likely pathogenic (recessive) g.94487399T>C g.94021843T>C c.4773+3A>G p.(Y1557Afs*18) - ABCA4_000038 no variant 2nd chromosome PubMed: Schulz 2017 - - Unknown - - - - - DNA arraySEQ, SEQ-NG - RetChip retinal disease Unknown 493 PubMed: Schulz 2017 191 F, 144 M in this study - ? Germany - - - - - 1 Stéphanie Cornelis
+?/. 33i c.4773+3A>G r.[4668_4773del,=] p.[Tyr1557Alafs*18,=] Both (homozygous) - likely pathogenic (recessive) g.94487399T>C g.94021843T>C c.4773+3A>G (hom) - ABCA4_000038 - PubMed: Schroeder 2018 - - Unknown - - - - - DNA PE - APEX retinal disease 1 PubMed: Schroeder 2018 - M ? Sweden - - - - - 1 Stéphanie Cornelis
+?/. 33i c.4773+3A>G r.[4668_4773del,=] p.[Tyr1557Alafs*18,=] Unknown - likely pathogenic (recessive) g.94487399T>C g.94021843T>C c.4773+3A>G p.[Tyr1557Alafs*18,=] - ABCA4_000038 no segregation analysis done PubMed: Khan 2019 - - Unknown - - - - - DNA SEQ-NG, MIPsm - smMIPs of exons and few intronic regions retinal disease 67305 PubMed: Khan 2019 - - ? France - - - - - 1 Stéphanie Cornelis
+?/. 33i c.4773+3A>G r.[4668_4773del,=] p.[Tyr1557Alafs*18,=] Unknown - likely pathogenic (recessive) g.94487399T>C g.94021843T>C c.4773+3A>G - ABCA4_000038 no variant 2nd chromosome PubMed: Holtan 2019 - - Unknown - - - - - DNA PE - APEX retinal disease Unknown 714 PubMed: Holtan 2019 - - ? Norway - - - - - 1 Stéphanie Cornelis
+?/. 33i c.4773+3A>G r.[4668_4773del,=] p.[Tyr1557Alafs*18,=] Unknown - likely pathogenic (recessive) g.94487399T>C g.94021843T>C c.4773+3A>G p.(?) - ABCA4_000038 - PubMed: Jespersgaard 2019 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease 340 PubMed: Jespersgaard 2019 - - ? Denmark - - - - - 1 Stéphanie Cornelis
+?/. 33i c.4773+3A>G r.[4668_4773del,=] p.[Tyr1557Alafs*18,=] Unknown - likely pathogenic (recessive) g.94487399T>C g.94021843T>C c.4773+3A>G, Heterozygous - ABCA4_000038 - PubMed: Goetz 2020 - - Unknown - 14, 121126, 0, 0.0001156 - - - DNA SEQ-NG-I - solid state SBS retinal disease 2097-2713 PubMed: Goetz 2020 - - ? - - - - - - 1 Stéphanie Cornelis
+?/. 33i c.4773+3A>G r.[4668_4773del,=] p.[Tyr1557Alafs*18,=] Unknown - likely pathogenic (recessive) g.94487399T>C g.94021843T>C c.4773+3A>G, Heterozygous - ABCA4_000038 - PubMed: Goetz 2020 - - Unknown - 14, 121126, 0, 0.0001156 - - - DNA SEQ-NG-I - solid state SBS retinal disease 2527-3170 PubMed: Goetz 2020 - - ? - - - - - - 1 Stéphanie Cornelis
+?/. 33i c.4773+3A>G r.[4668_4773del,=] p.[Tyr1557Alafs*18,=] Unknown - likely pathogenic (recessive) g.94487399T>C g.94021843T>C c.IVS33+3A>G, Heterozygous - ABCA4_000038 - PubMed: Goetz 2020 - - Unknown - 14, 121126, 0, 0.0001156 - - - DNA SEQ-NG-I - solid state SBS retinal disease 5318-6428 PubMed: Goetz 2020 - - ? - - - - - - 1 Stéphanie Cornelis
+?/. 33i c.4773+3A>G r.[4668_4773del,=] p.[Tyr1557Alafs*18,=] Unknown - likely pathogenic (recessive) g.94487399T>C g.94021843T>C c.4773+3A>G, Heterozygous - ABCA4_000038 no variant 2nd chromosome PubMed: Goetz 2020 - - Unknown - 14, 121126, 0, 0.0001156 - - - DNA SEQ-NG-I - solid state SBS retinal disease 5706-6922 PubMed: Goetz 2020 - - ? - - - - - - 1 Stéphanie Cornelis
+?/. 33i c.4773+3A>G r.[4668_4773del,=] p.[Tyr1557Alafs*18,=] Unknown - likely pathogenic (recessive) g.94487399T>C g.94021843T>C c.4773+3A>G (p.?) - ABCA4_000038 no segregation analysis done PubMed: Zernant 2017 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease 9004 PubMed: Zernant 2017 - - ? United States - - - - - 1 Stéphanie Cornelis
+?/. 33i c.4773+3A>G r.[4668_4773del,=] p.[Tyr1557Alafs*18,=] Parent #2 - likely pathogenic (recessive) g.94487399T>C g.94021843T>C c.4773+3A>G IVS33+3 A>G - ABCA4_000038 - PubMed: Stone 2017 - - Unknown yes - - - - DNA SEQ-NG-I - - retinal disease 670 PubMed: Stone 2017 - M ? - - - - - - 1 Stéphanie Cornelis
+?/. 33i c.4773+3A>G r.[4668_4773del,=] p.[Tyr1557Alafs*18,=] Unknown - likely pathogenic (recessive) g.94487399T>C g.94021843T>C c.4773+3A>G p.(?) - ABCA4_000038 - PubMed: Lee 2018 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease 9 PubMed: Lee 2018 - M ? United States white - - - - 1 Stéphanie Cornelis
+?/. 33i c.4773+3A>G r.[4668_4773del,=] p.[Tyr1557Alafs*18,=] Unknown - likely pathogenic (recessive) g.94487399T>C g.94021843T>C c.4773+3A>G p.(?) - ABCA4_000038 - PubMed: Jespersgaard 2019 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease 334 PubMed: Jespersgaard 2019 - - ? Denmark - - - - - 1 Stéphanie Cornelis
+?/. 33i c.4773+3A>G r.[4668_4773del,=] p.[Tyr1557Alafs*18,=] Unknown - likely pathogenic (recessive) g.94487399T>C g.94021843T>C c.4773+3A>G Intronic het - ABCA4_000038 - Prevention Genetics - - Unknown - - - - - DNA SEQ-NG - STGDMD panel retinal disease 2017-306-045 Prevention Genetics - - ? - white - - - - 1 Stéphanie Cornelis
+?/. 33i c.4773+3A>G r.spl? p.? Unknown - likely pathogenic g.94487399T>C - c.4773+3A>G - ABCA4_000038 Check also: Lewis 1999, Duno 2012 PubMed: Avela 2019 - - Unknown - - - - - DNA SEQ-NG blood - retinal disease - PubMed: Avela 2019 - - - Finland Finnish - - - - 1 LOVD
+/. 33i c.4773+3A>G r.spl? p.? Unknown - pathogenic g.94487399T>C - c.4773+3A>G - ABCA4_000038 - PubMed: Jonsson-2013 - - Unknown - - - - - DNA arraySNP, SEQ, PCR blood - retinal disease - PubMed: Jonsson-2013 - F - Sweden Swedish - - - - 1 LOVD
+/. 33i c.4773+3A>G r.spl? p.? Unknown - pathogenic g.94487399T>C - c.4773+3A>G - ABCA4_000038 - PubMed: Jonsson-2013 - - Unknown - - - - - DNA PE, SEQ blood - retinal disease - PubMed: Jonsson-2013 - M - Sweden Swedish - - - - 1 LOVD
+/. 33i c.4773+3A>G r.spl? p.? Unknown - pathogenic g.94487399T>C - c.4773+3A>G - ABCA4_000038 - PubMed: Jonsson-2013 - - Unknown - - - - - DNA arraySNP, SEQ, PCR blood - retinal disease - PubMed: Jonsson-2013 - F - Sweden Swedish - - - - 1 LOVD
+/. 33i c.4773+3A>G r.spl? p.? Unknown - pathogenic (recessive) g.94487399T>C - c.4773+3A>G - ABCA4_000038 - PubMed: Fritsche 2012 - - Unknown ? - - - - DNA SEQ - - retinal disease M-013-GA PubMed: Fritsche 2012 The genotypes for the CFH rs1061170, ARMS2 rs10490924 and C3 rs2230199 locations were T/T, G/G, C/C respectively. Unknown 2nd chromosome. F ? Germany - - - - - 1 LOVD
+?/. - c.4773+3A>G r.spl? p.(?) Parent #2 - likely pathogenic g.94487399T>C g.94021843T>C ABCA4 c.4773+3A>G - ABCA4_000038 no protein annotation; heterozygous PubMed: Avela 2019 - - Germline yes - - - - DNA SEQ-NG, SEQ - targeted gene analysis or a next-generation sequencing-based gene panel retinal disease 25 PubMed: Avela 2019 - ? - Finland - - - - - 1 LOVD
+/. 33i c.4773+3A>G r.4668_4773del p.Tyr1557Alafs*18 Parent #2 - pathogenic g.94487399T>C g.94021843T>C - - ABCA4_000038 - PubMed: Huang 2022 - - Germline - - - - - DNA, RNA RT-PCR, SEQ - - retinal disease Pat42 PubMed: Huang 2022 - - - Australia - - - - - 1 Johan den Dunnen
+/. - c.4773+3A>G r.[(4668_4773del,=)] p.[(Tyr1557Alafs*18,=)] Unknown - pathogenic (recessive) g.94487399T>C g.94021843T>C - - ABCA4_000038 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Germline/De novo (untested) - - - - - DNA SEQ - - retinal disease MEH-other-113 PubMed: Cornelis 2024, Journal: Cornelis 2024 - F - United Kingdom (Great Britain) - - - - - 1 Stéphanie Cornelis
+/. - c.4773+3A>G r.spl? p.? Unknown ACMG pathogenic (recessive) g.94487399T>C g.94021843T>C - - ABCA4_000038 ACMG PP3, PM2, PP5_STRONG PubMed: Weisschuh 2024 236122 - Germline - - - - - DNA SEQ-NG - WGS ? CRD-800 PubMed: Weisschuh 2024 patient, no family history M - Germany - - - - - 1 Johan den Dunnen
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