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.

24 entries on 1 page. Showing entries 1 - 24.
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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     
+?/. 16 c.2453G>A r.(?) p.(Gly818Glu) Both (homozygous) - likely pathogenic g.94520801C>T g.94055245C>T G2453A - ABCA4_000724 - PubMed: Allikmets 1997; PubMed: Allikmets 1997 - - Germline ? ExAC 24, 121324, 0, 0.0001978 - - - DNA HD, SEQ - - STGD1 - PubMed: Anderson 1995 - ? ? - ? - - - - 1 Stéphanie Cornelis
+?/. 16 c.2453G>A r.(?) p.(Gly818Glu) Unknown - likely pathogenic g.94520801C>T g.94055245C>T c.2453G>A - ABCA4_000724 - PubMed: Chacón-Camacho 2013 - - Germline - 24, 121324, 0, 0.0001978 - - - DNA PCR, SEQ - - STGD1 - PubMed: Chacón-Camacho 2013 - ? ? Mexico ? - - - - 1 Stéphanie Cornelis
+?/. 16 c.2453G>A r.(?) p.(Gly818Glu) Parent #2 - likely pathogenic g.94520801C>T g.94055245C>T c.2453G>A - ABCA4_000724 - PubMed: Chacón-Camacho 2013 - - Germline ? 24, 121324, 0, 0.0001978 - - - DNA PCR, SEQ - - STGD1 - PubMed: Chacón-Camacho 2013 - ? ? Mexico ? - - - - 1 Stéphanie Cornelis
+?/. 16 c.2453G>A r.(?) p.(Gly818Glu) Both (homozygous) - likely pathogenic g.94520801C>T g.94055245C>T c.2453G>A - ABCA4_000724 - PubMed: Chacón-Camacho 2013 - - Germline ? 24, 121324, 0, 0.0001978 - - - DNA PCR, SEQ - - STGD1 - PubMed: Chacón-Camacho 2013 - - ? Mexico ? - - - - 1 Stéphanie Cornelis
+?/. 16 c.2453G>A r.(?) p.(Gly818Glu) Unknown - likely pathogenic g.94520801C>T g.94055245C>T c.2453G>A - ABCA4_000724 - PubMed: Chacón-Camacho 2013 - - Germline ? 24, 121324, 0, 0.0001978 - - - DNA PCR, SEQ - - STGD1 - PubMed: Chacón-Camacho 2013 - ? ? Mexico ? - - - - 1 Stéphanie Cornelis
+?/. 16 c.2453G>A r.(?) p.(Gly818Glu) Unknown - likely pathogenic g.94520801C>T g.94055245C>T c.2453G>A - ABCA4_000724 - PubMed: Chacón-Camacho 2013 - - Germline - 24, 121324, 0, 0.0001978 - - - DNA PCR, SEQ - - STGD1 - PubMed: Chacón-Camacho 2013 - ? ? Mexico ? - - - - 1 Stéphanie Cornelis
?/. 16 c.2453G>A r.(?) p.(Gly818Glu) Unknown - VUS g.94520801C>T g.94055245C>T c.2453G>A - ABCA4_000724 - PubMed: Chacón-Camacho 2013 - - Germline - 24, 121324, 0, 0.0001978 - - - DNA PCR, SEQ - - STGD1 - PubMed: Chacón-Camacho 2013 - ? ? Mexico ? - - - - 1 Stéphanie Cornelis
+?/. 16 c.2453G>A r.(?) p.(Gly818Glu) Unknown - likely pathogenic g.94520801C>T g.94055245C>T G818E - ABCA4_000724 - PubMed: Cideciyan 2009 - - Germline yes 24, 121324, 0, 0.0001978 - - - DNA ? - - STGD1 - PubMed: Cideciyan 2009 ? M ? - ? - - - - 1 Stéphanie Cornelis
+/. 16 c.2453G>A r.(2453g>a) p.(Gly818Glu) Parent #1 ACMG pathogenic (recessive) g.94520801C>T g.94055245C>T - - ABCA4_000724 - PubMed: Cornelis 2017, Journal: Cornelis 2017, Journal: Cornelis 2023 - - SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2453G>A r.(?) p.(Gly818Glu) Unknown - VUS g.94520801C>T g.94055245C>T - - ABCA4_000724 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 16 c.2453G>A r.(?) p.(Gly818Glu) Unknown - likely pathogenic (recessive) g.94520801C>T g.94055245C>T c.2453G>A (p.Gly818Glu) - ABCA4_000724 no segregation analysis done PubMed: Zernant 2017 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease 3483 PubMed: Zernant 2017 - - ? United States - - - - - 1 Stéphanie Cornelis
+?/. 16 c.2453G>A r.(?) p.(Gly818Glu) Unknown - likely pathogenic (recessive) g.94520801C>T g.94055245C>T c.2453G>A,p.Gly818Glu - ABCA4_000724 - PubMed: Fujinami 2019 - - Unknown - - - - - DNA SEQ-NG - SEQ-NG (143 cases), APEX (44 cases), SSCP (24 cases), SEQ (134) retinal disease 11019 PubMed: Fujinami 2019 191 F, 154 M in this study - ? United States - - - - - 1 Stéphanie Cornelis
+?/. 16 c.2453G>A r.(?) p.(Gly818Glu) Unknown - likely pathogenic (recessive) g.94520801C>T g.94055245C>T c.2453G>A,p.Gly818Glu - ABCA4_000724 - PubMed: Fujinami 2019 - - Unknown - - - - - DNA SEQ-NG - SEQ-NG (143 cases), APEX (44 cases), SSCP (24 cases), SEQ (134) retinal disease 14075 PubMed: Fujinami 2019 191 F, 154 M in this study - ? United Kingdom (Great Britain) - - - - - 1 Stéphanie Cornelis
+?/. 16 c.2453G>A r.(?) p.(Gly818Glu) Unknown - likely pathogenic (recessive) g.94520801C>T g.94055245C>T c.2453G>A; - ABCA4_000724 - PubMed: Light 2017 - - Unknown - - - - - DNA ? - - retinal disease P3 PubMed: Light 2017 - M ? United States India - - - - 1 Stéphanie Cornelis
+?/. 16 c.2453G>A r.(?) p.(Gly818Glu) Unknown - likely pathogenic (recessive) g.94520801C>T g.94055245C>T c.2453G>A p.(Gly818Glu) - ABCA4_000724 no variant 2nd chromosome PubMed: Jespersgaard 2019 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease 329 PubMed: Jespersgaard 2019 - - ? Denmark - - - - - 1 Stéphanie Cornelis
+?/. 16 c.2453G>A r.(?) p.(Gly818Glu) Unknown - likely pathogenic (recessive) g.94520801C>T g.94055245C>T c.2453G>A p.Gly818Glu Het - ABCA4_000724 - Prevention Genetics - - Unknown - - - - - DNA SEQ-NG - IRD panel retinal disease 2019-206-492 Prevention Genetics - - ? - - - - - - 1 Stéphanie Cornelis
+?/. 16 c.2453G>A r.(?) p.(Gly818Glu) Unknown - likely pathogenic (recessive) g.94520801C>T g.94055245C>T c.2453G>A p.Gly818Glu het - ABCA4_000724 - Prevention Genetics - - Unknown - - - - - DNA SEQ-NG - STGDMD panel retinal disease 2019-220-253 Prevention Genetics - - ? - - - - - - 1 Stéphanie Cornelis
+?/. 16 c.2453G>A r.(?) p.(Gly818Glu) Unknown - likely pathogenic (recessive) g.94520801C>T g.94055245C>T c.2453G>A, p.Gly818Glu Heterozygous - ABCA4_000724 - PubMed: Goetz 2020 - - Unknown - 24, 121324, 0, 0.0001978 - - - DNA SEQ - - retinal disease 32-713 PubMed: Goetz 2020 - - ? - - - - - - 1 Stéphanie Cornelis
+?/. 16 c.2453G>A r.(?) p.(Gly818Glu) Unknown - likely pathogenic (recessive) g.94520801C>T g.94055245C>T c.2453G>A, p.Gly818Glu Heterozygous - ABCA4_000724 - PubMed: Goetz 2020 - - Unknown - 24, 121324, 0, 0.0001978 - - - DNA SEQ-NG-I - solid state SBS retinal disease 4736-5748 PubMed: Goetz 2020 - - ? - - - - - - 1 Stéphanie Cornelis
+?/. 16 c.2453G>A r.(?) p.(Gly818Glu) Unknown - likely pathogenic (recessive) g.94520801C>T g.94055245C>T c.2453G>A, p.Gly818Glu Heterozygous - ABCA4_000724 - PubMed: Goetz 2020 - - Unknown - 24, 121324, 0, 0.0001978 - - - DNA SEQ - - retinal disease 5740-6937 PubMed: Goetz 2020 - - ? - - - - - - 1 Stéphanie Cornelis
+?/. 16 c.2453G>A r.(?) p.(Gly818Glu) Unknown - likely pathogenic (recessive) g.94520801C>T g.94055245C>T c.2453G>A, p.Gly818Glu Heterozygous - ABCA4_000724 - PubMed: Goetz 2020 - - Unknown - 24, 121324, 0, 0.0001978 - - - DNA SEQ - - retinal disease 4846-5905 PubMed: Goetz 2020 - - ? - - - - - - 1 Stéphanie Cornelis
+?/. - c.2453G>A r.(?) p.(Gly818Glu) Maternal (confirmed) - likely pathogenic g.94520801C>T g.94055245C>T c.2453G>A (G818E) - ABCA4_000724 - PubMed: Sajan 2019 - - Germline - - - - - DNA SEQ-NG - trio WES RLSDF Pat2 PubMed: Sajan 2019 2-generation family, 1 affected, unaffected heterozygous parents ? - United States - - - - - 1 Johan den Dunnen
+/. - c.2453G>A r.(?) p.(Gly818Glu) Unknown - pathogenic (recessive) g.94520801C>T g.94055245C>T - - ABCA4_000724 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Germline/De novo (untested) - - - - - DNA SEQ - - retinal disease MEH-nonmild-290 PubMed: Cornelis 2024, Journal: Cornelis 2024 - M - United Kingdom (Great Britain) - - - - - 1 Stéphanie Cornelis
+/. 16 c.2453G>A r.(?) p.(Gly818Glu) Both (homozygous) ACMG pathogenic (recessive) g.94520801C>T g.94055245C>T - - ABCA4_000724 - - ClinVar-99135 rs61750202 Germline yes - - - - DNA SEQ-NG-I gDNA from peripheral blood whole exome sequencing MSUD1A 3bINP-069 PubMed: Vela-Amieva 2024 Likely consanguinity. Co-occurrence of two different monogenic diseases. M no Mexico Mexican - - - - 1 Miriam Erandi Reyna-Fabián
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