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.

32 entries on 1 page. Showing entries 1 - 32.
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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     

Country     

Population     

Age at death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
+/. 46 c.6286G>A r.(?) p.(Glu2096Lys) Paternal (confirmed) - pathogenic g.94466658C>T g.94001102C>T 6286G>A - ABCA4_000132 - PubMed: Shroyer 2001 - - Germline yes ExAC 1, 120798, 0, 0.000008278 - - - DNA PCR, SEQ - - STGD1 - PubMed: Lewis 1999 3-generation family, 2 affected F ? - ? - - - - 1 Stéphanie Cornelis
+/. 46 c.6286G>A r.(?) p.(Glu2096Lys) Paternal (confirmed) - pathogenic g.94466658C>T g.94001102C>T 6286G>A - ABCA4_000132 - PubMed: Shroyer 2001 - - Germline yes ExAC 1, 120798, 0, 0.000008278 - - - DNA PCR, SEQ - - STGD1 - PubMed: Lewis 1999 3-generation family, 2 affected F ? - ? - - - - 1 Stéphanie Cornelis
?/. 46 c.6286G>A r.(?) p.(Glu2096Lys) Unknown - VUS g.94466658C>T g.94001102C>T E2096K - ABCA4_000132 found no variant 2nd chromosome PubMed: Passerini 2010 - - Germline - 1, 120798, 0, 0.000008278 - - - DNA PCR, DHPLC, SEQ - - STGD1 - PubMed: Passerini 2010 - ? ? Italy ? - - - - 1 Stéphanie Cornelis
+?/. 46 c.6286G>A r.(?) p.(Glu2096Lys) Unknown - likely pathogenic g.94466658C>T g.94001102C>T c.6286G>A, p.Glu2096Lys - ABCA4_000132 - PubMed: Fujinami 2013 - - Germline ? 1, 120798, 0, 0.000008278 - - - DNA SSCA, PE - APEX ? - PubMed: Fujinami 2013 - ? ? - ? - - - - 1 Stéphanie Cornelis
+?/. 46 c.6286G>A r.(6286g>a) p.(Glu2096Lys) Parent #1 ACMG likely pathogenic (recessive) g.94466658C>T g.94001102C>T - - ABCA4_000132 - PubMed: Cornelis 2017, Journal: Cornelis 2017, Journal: Cornelis 2023 - - SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
+/. 46 c.6286G>A r.(?) p.(Glu2096Lys) Parent #1 - pathogenic (recessive) g.94466658C>T g.94001102C>T - - ABCA4_000132 - PubMed: Hu 2019 - - Germline - - - - - DNA SEQ-NG peripheral blood - STGD1 P8 PubMed: Hu 2019 - M yes China Asian 24y - yes none 1 Fangyuan Hu
+?/. 46 c.6286G>A r.(?) p.(Glu2096Lys) Unknown ACMG likely pathogenic g.94466658C>T - - - ABCA4_000132 - Mena et al., 2020 submitted - rs61750646 Germline ? - - - - DNA SEQ-NG-IT blood gene panel (ABCA4, CNGB3, ELOVL4, PROM1) STGD1 - Mena et al., 2020 submitted. - M no Argentina - - - - - 1 Marcela Mena
+?/. - c.6286G>A r.(?) p.(Glu2096Lys) Both (homozygous) - likely pathogenic g.94466658C>T g.94001102C>T - - ABCA4_000132 - PubMed: Patel 2016 - - Germline - - - - - DNA SEQ-NG - gene panel retinal disease 12DG1654 PubMed: Patel 2016 - - - Saudi Arabia - - - - - 1 LOVD
+/. 46 c.6286G>A r.(?) p.(Glu2096Lys) Unknown - pathogenic (recessive) g.94466658C>T g.94001102C>T c.6286G>A p.(Glu2096Lys) - ABCA4_000132 - PubMed: Lambertus 2017 - - Unknown - - - - - DNA ? - - retinal disease MEH 11 PubMed: Lambertus 2017 - F ? United Kingdom (Great Britain) - - - - - 1 Stéphanie Cornelis
+/. 46 c.6286G>A r.(?) p.(Glu2096Lys) Unknown - pathogenic (recessive) g.94466658C>T g.94001102C>T c.6286G>A,p.Glu2096Lys - ABCA4_000132 - PubMed: Fujinami 2019 - - Unknown - - - - - DNA SEQ-NG - SEQ-NG (143 cases), APEX (44 cases), SSCP (24 cases), SEQ (134) retinal disease 14112 PubMed: Fujinami 2019 191 F, 154 M in this study - ? United Kingdom (Great Britain) - - - - - 1 Stéphanie Cornelis
+/. 46 c.6286G>A r.(?) p.(Glu2096Lys) Unknown - pathogenic (recessive) g.94466658C>T g.94001102C>T c.6286G>A - ABCA4_000132 - PubMed: Hu 2019 - - Unknown - - - - - DNA SEQ-NG - - retinal disease P8 PubMed: Hu 2019 - M ? China China - - - - 1 Stéphanie Cornelis
+/. 46 c.6286G>A r.(?) p.(Glu2096Lys) Unknown - pathogenic (recessive) g.94466658C>T g.94001102C>T c.6286G>A - ABCA4_000132 no variant 2nd chromosome PubMed: Hu 2019 - - Unknown - - - - - DNA SEQ-NG - - retinal disease Unknown 1068 PubMed: Hu 2019 - - ? China China - - - - 1 Stéphanie Cornelis
+/. 46 c.6286G>A r.(?) p.(Glu2096Lys) Both (homozygous) - pathogenic (recessive) g.94466658C>T g.94001102C>T NM_000350.2:c.6286G>A; p.Glu2096Lys - ABCA4_000132 - PubMed: Patel 2016 - - Unknown - - - - - DNA SEQ-NG - next-generation multiplexing assay Vision Panel retinal disease 12DG1654 PubMed: Patel 2016 - - ? Saudi Arabia - - - - - 1 Stéphanie Cornelis
+/. 46 c.6286G>A r.(?) p.(Glu2096Lys) Unknown - pathogenic (recessive) g.94466658C>T g.94001102C>T c.G6286A:p.E2096K - ABCA4_000132 no variant 2nd chromosome PubMed: Abouelhoda 2016 - - Unknown - - - - - DNA SEQ-NG - WES retinal disease Unknown 1160 PubMed: Abouelhoda 2016 mutations were not reported per patient. It is unknown if they were found bi-allelicly or mono-allecly - ? Saudi Arabia - - - - - 1 Stéphanie Cornelis
+/. 46 c.6286G>A r.(?) p.(Glu2096Lys) Unknown - pathogenic (recessive) g.94466658C>T g.94001102C>T c.6286G>A p.Glu2096Lys Het - ABCA4_000132 no variant 2nd chromosome Prevention Genetics - - Unknown - - - - - DNA SEQ-NG - IRD panel retinal disease 2017-167-225 Prevention Genetics - - ? - African American - - - - 1 Stéphanie Cornelis
+/. 46 c.6286G>A r.(?) p.(Glu2096Lys) Unknown - pathogenic (recessive) g.94466658C>T g.94001102C>T c.6286G>A, p.Glu2096Lys Heterozygous - ABCA4_000132 no variant 2nd chromosome PubMed: Goetz 2020 - - Unknown - 1, 120798, 0, 0.000008278 - - - DNA SEQ-NG-I - solid state SBS retinal disease 2631-3287 PubMed: Goetz 2020 - - ? - - - - - - 1 Stéphanie Cornelis
+/. 46 c.6286G>A r.(?) p.(Glu2096Lys) Unknown - pathogenic (recessive) g.94466658C>T g.94001102C>T c.6286G>A (p.E2096K) - ABCA4_000132 - PubMed: Utz 2013 - - Unknown - - - - - DNA PE, SEQ - APEX retinal disease 9 PubMed: Utz 2013 - - ? United States African American - - - - 1 Stéphanie Cornelis
+/. 46 c.6286G>A r.(?) p.(Glu2096Lys) Unknown - pathogenic (recessive) g.94466658C>T g.94001102C>T c.6286G>A,p.Glu2096Lys - ABCA4_000132 - PubMed: Fujinami 2019 - - Unknown - - - - - DNA SEQ-NG - SEQ-NG (143 cases), APEX (44 cases), SSCP (24 cases), SEQ (134) retinal disease 14056 PubMed: Fujinami 2019 191 F, 154 M in this study - ? United Kingdom (Great Britain) - - - - - 1 Stéphanie Cornelis
+/. 46 c.6286G>A r.(?) p.(Glu2096Lys) Unknown - pathogenic (recessive) g.94466658C>T g.94001102C>T c.6286G>A, p.Glu2096Lys Heterozygous - ABCA4_000132 - PubMed: Goetz 2020 - - Unknown - 1, 120798, 0, 0.000008278 - - - DNA SEQ-NG-I - solid state SBS retinal disease 1060-2492 PubMed: Goetz 2020 - - ? - - - - - - 1 Stéphanie Cornelis
+/. 46 c.6286G>A r.(?) p.(Glu2096Lys) Unknown - pathogenic (recessive) g.94466658C>T g.94001102C>T c.6286G>A, p.Glu2096Lys heterozygous - ABCA4_000132 - PubMed: Goetz 2020 - - Unknown - 1, 120798, 0, 0.000008278 - - - DNA arraySEQ, SEQ - Gene Chip retinal disease 500-1010 PubMed: Goetz 2020 - - ? - - - - - - 1 Stéphanie Cornelis
?/. - c.6286G>A r.(?) p.(Glu2096Lys) Unknown ACMG VUS g.94466658C>T g.94001102C>T ABCA4 c.G6286A, p.E2096K - ABCA4_000132 marked as causative, heterozygous PubMed: Ma 2021 - - Unknown ? - - - - DNA SEQ-NG-I, SEQ - whole exome sequencing retinal disease 76 PubMed: Ma 2021 - ? - Korea - - - - - 1 LOVD
+?/. 46 c.6286G>A r.(?) p.(Glu2096Lys) Unknown - likely pathogenic (recessive) g.94466658C>T - c.6286G>A - ABCA4_000132 - PubMed: Liu-2020 - - Germline - - - - - DNA SEQ-NG - hereditary eye disease enrichment panel (HEDEP) retinal disease - PubMed: Liu-2020 - F - - - - - - - 1 LOVD
+/. 46 c.6286G>A r.(?) p.(Glu2096Lys) Unknown - pathogenic (recessive) g.94466658C>T - c.6286G>A, p.Glu2096Lys - ABCA4_000132 - PubMed: Fujinami 2013 - - Unknown ? - - - - DNA PE, SSCA, SEQ - - retinal disease 48 PubMed: Fujinami 2013 - ? ? United Kingdom (Great Britain) - - - - - 1 LOVD
+/. - c.6286G>A r.(?) p.(Glu2096Lys) Both (homozygous) - pathogenic (recessive) g.94466658C>T g.94001102C>T - - ABCA4_000132 - PubMed: Tian 2024 - - Germline yes - - - - DNA SEQ - - retinal disease - PubMed: Tian 2024 - F - China - - - - - 1 Lu Tian
+/. - c.6286G>A r.(?) p.(Glu2096Lys) Parent #2 - pathogenic (recessive) g.94466658C>T g.94001102C>T - - ABCA4_000132 - PubMed: Tian 2024 - - Germline yes - - - - DNA SEQ - - retinal disease - PubMed: Tian 2024 - F - China - - - - - 1 Lu Tian
+?/. - c.6286G>A r.(?) p.(Glu2096Lys) Both (homozygous) - likely pathogenic (recessive) g.94466658C>T g.94001102C>T - - ABCA4_000132 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Unknown - - - - - DNA SEQ-NG - - retinal disease L-1032 PubMed: Cornelis 2024, Journal: Cornelis 2024 - F - France - - - - - 1 Frans Cremers
+?/. - c.6286G>A r.(?) p.(Glu2096Lys) Both (homozygous) - likely pathogenic (recessive) g.94466658C>T g.94001102C>T - - ABCA4_000132 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Unknown - - - - - DNA SEQ-NG - - retinal disease L-1032 PubMed: Cornelis 2024, Journal: Cornelis 2024 - F - France - - - - - 1 Frans Cremers
+?/. - c.6286G>A r.(?) p.(Glu2096Lys) Unknown - likely pathogenic (recessive) g.94466658C>T g.94001102C>T - - ABCA4_000132 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Germline/De novo (untested) - - - - - DNA SEQ - - retinal disease MEH-nonmild-166 PubMed: Cornelis 2024, Journal: Cornelis 2024 - F - United Kingdom (Great Britain) - - - - - 1 Stéphanie Cornelis
+?/. - c.6286G>A r.(?) p.(Glu2096Lys) Unknown - likely pathogenic (recessive) g.94466658C>T g.94001102C>T - - ABCA4_000132 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Germline/De novo (untested) - - - - - DNA SEQ - - retinal disease MEH-other-44 PubMed: Cornelis 2024, Journal: Cornelis 2024 - M - United Kingdom (Great Britain) - - - - - 1 Stéphanie Cornelis
+?/. - c.6286G>A r.(?) p.(Glu2096Lys) Unknown - likely pathogenic (recessive) g.94466658C>T g.94001102C>T - - ABCA4_000132 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Germline/De novo (untested) - - - - - DNA SEQ - - retinal disease MEH-nonmild-199 PubMed: Cornelis 2024, Journal: Cornelis 2024 - F - United Kingdom (Great Britain) - - - - - 1 Stéphanie Cornelis
+?/. - c.6286G>A r.(?) p.(Glu2096Lys) Unknown - likely pathogenic (recessive) g.94466658C>T g.94001102C>T - - ABCA4_000132 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Germline/De novo (untested) - - - - - DNA SEQ - - retinal disease MEH-nonmild-365 PubMed: Cornelis 2024, Journal: Cornelis 2024 - F - United Kingdom (Great Britain) - - - - - 1 Stéphanie Cornelis
+/. - c.6286G>A r.(?) p.(Glu2096Lys) Unknown - pathogenic g.94466658C>T - ABCA4(NM_000350.3):c.6286G>A (p.E2096K) - ABCA4_000132 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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