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.

23 entries on 1 page. Showing entries 1 - 23.
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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     

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Age at death     

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Owner     
+/. 36 c.5161_5162del r.(?) p.(Thr1721Hisfs*65) Unknown - pathogenic g.94485173_94485174del g.94019617_94019618del 5161delAC - ABCA4_000468 - PubMed: Maugeri 1999 - - Germline ? - - - - DNA HD, SEQ - - STGD1 - PubMed: Maugeri 1999 - ? ? Sweden;Germany;Netherlands - - - - - 1 Stéphanie Cornelis
?/. 36 c.5161_5162del r.(?) p.(Thr1721Hisfs*65) Unknown - VUS g.94485173_94485174del g.94019617_94019618del 5161delAC - ABCA4_000468 - PubMed: Papaioannou 2000 - - Germline - - - - - DNA HD, SEQ - - ? - PubMed: Papaioannou 2000 Possibly combined with one of the other mutations listed mentioned in this paper (PubMed: Papaioannou 2000), because two more compound heterozygous patients are present in this list, but their mutations were not mentioned to belong together. Therefore, these mutations are listed seperately. ? ? United Kingdom (Great Britain) ? - - - - 1 Stéphanie Cornelis
+?/. 36 c.5161_5162del r.(?) p.(Thr1721Hisfs*65) Unknown - likely pathogenic g.94485173_94485174del g.94019617_94019618del delete AC @ nt 5161 - ABCA4_000468 - PubMed: Briggs 2001 - - Germline - - - - - DNA SSCA, SEQ - - STGD1 - PubMed: Briggs 2001 - ? ? - ? - - - - 1 Stéphanie Cornelis
?/. 36 c.5161_5162del r.(?) p.(Thr1721Hisfs*65) Unknown - VUS g.94485173_94485174del g.94019617_94019618del c.5161–5162delAC - ABCA4_000468 - PubMed: Ernest 2009 - - Germline - - - - - DNA PE, DGGE, SEQ - APEX ? - PubMed: Ernest 2009 Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome. ? ? - ? - - - - 1 Stéphanie Cornelis
+?/. 36 c.5161_5162del r.(?) p.(Thr1721Hisfs*65) Unknown - likely pathogenic g.94485173_94485174del g.94019617_94019618del c.5160_5161del - ABCA4_000468 - PubMed: Bauwens 2014 - - Germline - - - - - DNA SEQ-NG-I, PCR, SEQ - - STGD1 - PubMed: Bauwens 2014 - F ? Belgium ? - - - - 1 Stéphanie Cornelis
+?/. 36 c.5161_5162del r.(?) p.(Thr1721Hisfs*65) Unknown - likely pathogenic g.94485173_94485174del g.94019617_94019618del c.5161-5162delAC - ABCA4_000468 - PubMed: Lambertus 2015 - - Germline - - - - - DNA PE, MLPA, SEQ - APEX STGD1 - PubMed: Lambertus 2015 - ? ? Netherlands ? - - - - 1 Stéphanie Cornelis
+/. 36 c.5161_5162del r.(5161_5162del) p.(Thr1721HisfsTer65) Parent #1 ACMG pathogenic (recessive) g.94485173_94485174del g.94019617_94019618del - - ABCA4_000468 - PubMed: Cornelis 2017, Journal: Cornelis 2017, Journal: Cornelis 2023 - - SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.5161_5162del r.(?) p.(Thr1721HisfsTer65) Unknown - pathogenic g.94485173_94485174del g.94019617_94019618del ABCA4(NM_000350.3):c.5161_5162delAC (p.T1721Hfs*65) - ABCA4_000468 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.5161_5162del r.(?) p.(Thr1721Hisfs*65) Unknown - pathogenic (recessive) g.94485172_94485173del - 1:94485171GGT>G ENST00000370225.3:c.5161_5162delAC (Thr1721HisfsTer65) - ABCA4_000468 - PubMed: Carss 2017 - - Germline - - - - - DNA SEQ-NG - WGS retinal disease G008146 PubMed: Carss 2017 - M - United Kingdom (Great Britain) Europe - - - - 1 LOVD
+/. 36 c.5161_5162del r.(?) p.(Thr1721Hisfs*65) Parent #1 - pathogenic (recessive) g.94485173_94485174del g.94019617_94019618del c.5161_5162del p.(Thr1721fs) - ABCA4_000468 no variant 2nd chromosome PubMed: Lambertus 2016 - - Unknown - - - - - DNA ? - - retinal disease 36 PubMed: Lambertus 2016 - - ? Netherlands - - - - - 1 Stéphanie Cornelis
+/. 36 c.5161_5162del r.(?) p.(Thr1721Hisfs*65) Unknown - pathogenic (recessive) g.94485173_94485174del g.94019617_94019618del c.5161_5162delAC p.Thr1721HisfsTer65 - ABCA4_000468 - PubMed: Tanna 2019 - - Unknown - - - - - DNA ? - - retinal disease P37 PubMed: Tanna 2019 - F ? - - - - - - 1 Stéphanie Cornelis
+/. 36 c.5161_5162del r.(?) p.(Thr1721Hisfs*65) Unknown - pathogenic (recessive) g.94485173_94485174del g.94019617_94019618del c.5161_5162delAC p.Thr1721HisfsTer65 - ABCA4_000468 - PubMed: Tanna 2019 - - Unknown - - - - - DNA ? - - retinal disease P6 PubMed: Tanna 2019 - F ? - - - - - - 1 Stéphanie Cornelis
+/. 36 c.5161_5162del r.(?) p.(Thr1721Hisfs*65) Unknown - pathogenic (recessive) g.94485173_94485174del g.94019617_94019618del c.5161_5162del p.(Thr1721Hisfs*65) - ABCA4_000468 - PubMed: Bax 2019 - - Unknown - - - - - DNA PE, SEQ - APEX retinal disease 16 PubMed: Bax 2019 - F ? Netherlands - - - - - 1 Stéphanie Cornelis
+/. 36 c.5161_5162del r.(?) p.(Thr1721Hisfs*65) Unknown - pathogenic (recessive) g.94485173_94485174del g.94019617_94019618del ENST00000370225.3:c.5161_5162delAC p.Thr1721HisfsTer65 0/1 - ABCA4_000468 - PubMed: Carss 2017 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease G008146 PubMed: Carss 2017 - M ? England white - - - - 1 Stéphanie Cornelis
+/. 36 c.5161_5162del r.(?) p.(Thr1721Hisfs*65) Unknown - pathogenic (recessive) g.94485173_94485174del g.94019617_94019618del c.5161_5162delAC, p.Thr1721HisfsX65 Heterozygous - ABCA4_000468 - PubMed: Goetz 2020 - - Unknown - - - - - DNA SEQ-NG-I - solid state SBS retinal disease 4901-5969 PubMed: Goetz 2020 - - ? - - - - - - 1 Stéphanie Cornelis
+/. 36 c.5161_5162del r.(?) p.(Thr1721Hisfs*65) Parent #2 - pathogenic (recessive) g.94485173_94485174del g.94019617_94019618del p.[Gly863Ala];[Thr1721fs] - ABCA4_000468 - PubMed: Fujinami 2015 - - Unknown yes - - - - DNA ? - - retinal disease 27 PubMed: Fujinami 2015 - - no United Kingdom (Great Britain) - - - - - 1 Stéphanie Cornelis
+/. 36 c.5161_5162del r.(?) p.(Thr1721Hisfs*65) Unknown - pathogenic (recessive) g.94485173_94485174del g.94019617_94019618del c.5160del2 p.T1721fs - ABCA4_000468 - PubMed: Fakin 2016 - - Unknown - - - - - DNA SEQ-NG - - retinal disease 19545 PubMed: Fakin 2016 - F ? - - - - - - 1 Stéphanie Cornelis
+/. 36 c.5161_5162del r.(?) p.(Thr1721Hisfs*65) Unknown - pathogenic (recessive) g.94485173_94485174del g.94019617_94019618del c.5161_5162delAC - ABCA4_000468 - PubMed: Khan 2018 - - Unknown - - - - - DNA SEQ-NG - WES retinal disease 51927327 PubMed: Khan 2018 - - ? - - - - - - 1 Stéphanie Cornelis
+/. 36 c.5161_5162del r.(?) p.(Thr1721Hisfs*65) Unknown - pathogenic (recessive) g.94485173_94485174del g.94019617_94019618del c.5161_5162delAC,p.Thr1721TfsTer65 - ABCA4_000468 - PubMed: Fujinami 2019 - - Unknown - - - - - DNA SEQ-NG - SEQ-NG (143 cases), APEX (44 cases), SSCP (24 cases), SEQ (134) retinal disease 14022 PubMed: Fujinami 2019 191 F, 154 M in this study - ? United Kingdom (Great Britain) - - - - - 1 Stéphanie Cornelis
+/. - c.5161_5162del r.(?) p.(Thr1721Hisfs*65) Unknown - pathogenic g.94485173_94485174del g.94019617_94019618del ABCA4 c.5161_5162delAC, p.Thr1721HisfsTer65 - ABCA4_000468 heterozygous PubMed: Turro 2020 - - Germline/De novo (untested) ? - - - - DNA SEQ-NG-I blood whole genome sequencing retinal disease G008146 PubMed: Turro 2020 only individuals with mutations in retinal disease genes from this publication were inserted into LOVD ? - (United Kingdom (Great Britain)) - - - - - 1 LOVD
+/. - c.5161_5162del r.(?) p.(Thr1721HisfsTer65) Unknown - pathogenic (recessive) g.94485173_94485174del g.94019617_94019618del - - ABCA4_000468 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Germline/De novo (untested) - - - - - DNA SEQ - - retinal disease MEH-nonmild-72 PubMed: Cornelis 2024, Journal: Cornelis 2024 - M - United Kingdom (Great Britain) - - - - - 1 Stéphanie Cornelis
+/. - c.5161_5162del r.(?) p.(Thr1721HisfsTer65) Unknown - pathogenic (recessive) g.94485173_94485174del g.94019617_94019618del - - ABCA4_000468 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Germline/De novo (untested) - - - - - DNA SEQ - - retinal disease MEH-other-60 PubMed: Cornelis 2024, Journal: Cornelis 2024 family, 2 affected F - United Kingdom (Great Britain) - - - - - 2 Stéphanie Cornelis
+/. - c.5161_5162del r.(?) p.(Thr1721HisfsTer65) Unknown - pathogenic (recessive) g.94485173_94485174del g.94019617_94019618del - - ABCA4_000468 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Germline/De novo (untested) - - - - - DNA SEQ - - retinal disease MEH-mild-124 PubMed: Cornelis 2024, Journal: Cornelis 2024 relative of MEH-other-60 F - United Kingdom (Great Britain) - - - - - 1 Stéphanie Cornelis
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