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.

22 entries on 1 page. Showing entries 1 - 22.
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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     

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Owner     
?/. 6 c.655A>T r.(?) p.(Arg219*) Maternal (confirmed) - VUS g.94564463T>A g.94098907T>A c.655A>T - ABCA4_000381 - PubMed: Xi 2009 - - Germline - - - - - DNA PCR, SEQ - - ? - PubMed: Xi 2009 - F no United States white, Ohio - - - - 1 Stéphanie Cornelis
?/. 6 c.655A>T r.(?) p.(Arg219*) Maternal (confirmed) - VUS g.94564463T>A g.94098907T>A c.655A>T - ABCA4_000381 - PubMed: Xi 2009 - - Germline - - - - - DNA PCR, SEQ - - ? - PubMed: Xi 2009 - F no United States white, Ohio - - - - 1 Stéphanie Cornelis
?/. 6 c.655A>T r.(?) p.(Arg219*) Unknown - VUS g.94564463T>A g.94098907T>A 655A>T - ABCA4_000381 - PubMed: Downes 2012 - - Germline - - - - - DNA SEQ, MLPA - - ? - PubMed: Downes 2012 - ? ? - ? - - - - 1 Stéphanie Cornelis
?/. 6 c.655A>T r.(?) p.(Arg219*) Unknown - VUS g.94564463T>A g.94098907T>A 655A>T - ABCA4_000381 - PubMed: Downes 2012 - - Germline - - - - - DNA SEQ, MLPA - - ? - PubMed: Downes 2012 - ? ? - ? - - - - 1 Stéphanie Cornelis
+/. 6 c.655A>T r.(?) p.(Arg219*) Unknown - pathogenic g.94564463T>A g.94098907T>A c.655A>T - ABCA4_000381 - PubMed: Fujinami 2013 - - Germline ? - - - - DNA PE, PCR, SEQ, SEQ-NG-R - APEX ? - PubMed: Fujinami 2013 - ? ? United Kingdom (Great Britain) ? - - - - 1 Stéphanie Cornelis
+/. 6 c.655A>T r.(655a>u) p.(Arg219Ter) Parent #1 ACMG pathogenic (recessive) g.94564463T>A g.94098907T>A - - ABCA4_000381 - PubMed: Cornelis 2017, Journal: Cornelis 2017, Journal: Cornelis 2023 - - SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
+/. 6 c.655A>T r.(?) p.(Arg219Ter) Parent #1 - pathogenic g.94564463T>A g.94098907T>A - - ABCA4_000381 variant other allele not reported PubMed: Ramkumar 2017 - - Germline - - - - - DNA SEQ - 17-gene panel retinal disease - PubMed: Ramkumar 2017 - - - United States - - - - - 1 LOVD
+/. 6 c.655A>T r.(?) p.(Arg219*) Unknown - pathogenic (recessive) g.94564463T>A g.94098907T>A c.655A>T p.Arg219Ter Het - ABCA4_000381 no variant 2nd chromosome PubMed: Ramkumar 2017 - - Unknown - - - - - DNA SEQ - - retinal disease Unknown 368 PubMed: Ramkumar 2017 - - ? United States - - - - - 1 Stéphanie Cornelis
+/. 6 c.655A>T r.(?) p.(Arg219*) Unknown - pathogenic (recessive) g.94564463T>A g.94098907T>A c.655A>T (p.Arg219*) - ABCA4_000381 no segregation analysis done PubMed: Zernant 2017 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease 3584 PubMed: Zernant 2017 - - ? United States - - - - - 1 Stéphanie Cornelis
+/. 6 c.655A>T r.(?) p.(Arg219*) Unknown - pathogenic (recessive) g.94564463T>A g.94098907T>A c.655A>T, p.Arg219Ter - ABCA4_000381 - PubMed: Fujinami 2019 - - Unknown - - - - - DNA SEQ-NG - SEQ-NG (143 cases), APEX (44 cases), SSCP (24 cases), SEQ (134) retinal disease 14094 PubMed: Fujinami 2019 191 F, 154 M in this study - ? United Kingdom (Great Britain) - - - - - 1 Stéphanie Cornelis
+/. 6 c.655A>T r.(?) p.(Arg219*) Unknown - pathogenic (recessive) g.94564463T>A g.94098907T>A c.655A>T p.R219* - ABCA4_000381 no variant 2nd chromosome PubMed: Retterer 2016 - - Unknown - - - - - DNA SEQ-NG - WES retinal disease Unknown 1155 PubMed: Retterer 2016 mutations were reported seperately, unknown if mono-allelic or bi-allelic - ? United States - - - - - 1 Stéphanie Cornelis
+/. 6 c.655A>T r.(?) p.(Arg219*) Unknown - pathogenic (recessive) g.94564463T>A g.94098907T>A c.655A>T, p.Arg219Stop Heterozygous - ABCA4_000381 - PubMed: Goetz 2020 - - Unknown - - - - - DNA SEQ-NG-I - solid state SBS retinal disease 2751-4326 PubMed: Goetz 2020 - - ? - - - - - - 1 Stéphanie Cornelis
+/. 6 c.655A>T r.(?) p.(Arg219*) Unknown - pathogenic (recessive) g.94564463T>A g.94098907T>A c.655A>T p.R219X - ABCA4_000381 - PubMed: Fakin 2016 - - Unknown - - - - - DNA SEQ-NG - - retinal disease 5377 PubMed: Fakin 2016 - M ? - - - - - - 1 Stéphanie Cornelis
+/. 6 c.655A>T r.(?) p.(Arg219*) Parent #1 ACMG pathogenic (recessive) g.94564463T>A g.94098907T>A - - ABCA4_000381 - PubMed: Corradi 2023, Journal: Corradi 2023 - - Germline - - - - - DNA MIPsm, SEQ-NG - - retinal disease Pat251 PubMed: Corradi 2023, Journal: Corradi 2023 - M - - - - - - - 1 Zelia Corradi
+/. - c.655A>T r.(?) p.(Arg219Ter) Unknown - pathogenic (recessive) g.94564463T>A g.94098907T>A - - ABCA4_000381 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Unknown - - - - - DNA SEQ-NG - - retinal disease L-0022 PubMed: Cornelis 2024, Journal: Cornelis 2024 - F - France - - - - - 1 Frans Cremers
+/. - c.655A>T r.(?) p.(Arg219Ter) Both (homozygous) - pathogenic (recessive) g.94564463T>A g.94098907T>A - - ABCA4_000381 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Germline yes - - - - DNA SSCA, SEQ - - retinal disease L-0650 PubMed: Cornelis 2024, Journal: Cornelis 2024 - M - France - - - - - 1 Frans Cremers
+/. - c.655A>T r.(?) p.(Arg219Ter) Parent #1 - pathogenic (recessive) g.94564463T>A g.94098907T>A - - ABCA4_000381 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Germline yes - - - - DNA SEQ-NG - - retinal disease L-0975 PubMed: Cornelis 2024, Journal: Cornelis 2024 - F - France - - - - - 1 Frans Cremers
+/. - c.655A>T r.(?) p.(Arg219Ter) Both (homozygous) - pathogenic (recessive) g.94564463T>A g.94098907T>A - - ABCA4_000381 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Germline yes - - - - DNA SSCA, SEQ - - retinal disease L-0650 PubMed: Cornelis 2024, Journal: Cornelis 2024 - M - France - - - - - 1 Frans Cremers
+/. - c.655A>T r.(?) p.(Arg219Ter) Unknown - pathogenic (recessive) g.94564463T>A g.94098907T>A - - ABCA4_000381 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Germline/De novo (untested) - - - - - DNA SEQ - - retinal disease MEH-mild-26 PubMed: Cornelis 2024, Journal: Cornelis 2024 - M - United Kingdom (Great Britain) - - - - - 1 Stéphanie Cornelis
+/. - c.655A>T r.(?) p.(Arg219Ter) Unknown - pathogenic (recessive) g.94564463T>A g.94098907T>A - - ABCA4_000381 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Germline/De novo (untested) - - - - - DNA SEQ - - retinal disease MEH-mild-98 PubMed: Cornelis 2024, Journal: Cornelis 2024 - M - United Kingdom (Great Britain) - - - - - 1 Stéphanie Cornelis
+/. - c.655A>T r.(?) p.(Arg219Ter) Unknown - pathogenic (recessive) g.94564463T>A g.94098907T>A - - ABCA4_000381 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Germline/De novo (untested) - - - - - DNA SEQ - - retinal disease MEH-other-86 PubMed: Cornelis 2024, Journal: Cornelis 2024 - M - United Kingdom (Great Britain) - - - - - 1 Stéphanie Cornelis
+/. 6 c.655A>T r.(?) p.(Arg219Ter) Parent #1 ACMG pathogenic g.94564463T>A g.94098907T>A - - ABCA4_000381 - PubMed: Hitti-Malin 2024, Journal: Hitti-Malin 2024 - - Germline - - - - - DNA SEQ, SEQ-NG - smMIP-based 105 iMD/AMD genes macular dystrophy 071932 PubMed: Hitti-Malin 2024, Journal: Hitti-Malin 2024 - F - - - - - - - 1 Rebekkah Hitti-Malin
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