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     
+/. 2 c.92G>A r.(?) p.(Trp31*) Unknown - pathogenic (recessive) g.94578597C>T g.94113041C>T c.92G>A, p.Trp31Stop Heterozygous - ABCA4_000250 - PubMed: Goetz 2020 - - Unknown - - - - - DNA SEQ-NG-I - solid state SBS retinal disease 2602-3257 PubMed: Goetz 2020 - - ? - - - - - - 1 Stéphanie Cornelis
+/. 2 c.92G>A r.(?) p.(Trp31*) Unknown - pathogenic (recessive) g.94578597C>T - c.92G>A - ABCA4_000250 - PubMed: Khan 2020 - - Unknown - - - - - DNA MIPsm - smMIPs-based complete ABCA4 gene retinal disease 71085 PubMed: Khan 2020 - F - Japan - - - - - 1 LOVD
+/. 2 c.92G>A r.(?) p.(Trp31Ter) Unknown ACMG pathogenic g.94578597C>T g.94113041C>T - - ABCA4_000250 ACMG PVS1, PS4, PM3_sup, PP3_m; severity category severe Journal: Cornelis 2023 - - SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 2 c.93G>A r.(?) p.(Trp31*) Unknown - likely pathogenic g.94578596C>T g.94113040C>T c.93G>A, p.Tyr31* - ABCA4_000250 - PubMed: Fujinami 2013 - - Germline - - - - - DNA SSCA, PE - APEX ? - PubMed: Fujinami 2013 - ? ? - ? - - - - 1 Stéphanie Cornelis
+/. 2 c.93G>A r.(93g>a) p.(Trp31Ter) Parent #1 ACMG pathogenic (recessive) g.94578596C>T g.94113040C>T - - ABCA4_000250 - PubMed: Cornelis 2017, Journal: Cornelis 2017, Journal: Cornelis 2023 - - SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.93G>A r.(?) p.(Trp31*) Both (homozygous) - pathogenic (recessive) g.94578596C>T g.94113040C>T - - ABCA4_000250 - PubMed: Lee 2017, Journal: Lee 2017 - - Germline - - - - - DNA SEQ-NG-I - - STGD1 - PubMed: Lee 2017, Journal: Lee 2017 - - - - Indian - - - - 29 Jana Zernant
+/. - c.93G>A r.(?) p.(Trp31*) Both (homozygous) - pathogenic (recessive) g.94578597C>T - - - ABCA4_000250 - PubMed: Todorova 2017 - - Germline yes - - - - DNA SEQ-NG - gene panel retinal disease Fam3 PubMed: Todorova 2017 2-generation family, affected father/daughter F;M - Switzerland - - - - - 2 Johan den Dunnen
+/. 2 c.93G>A r.(?) p.(Trp31*) Both (homozygous) - pathogenic (recessive) g.94578596C>T g.94113040C>T p.(W31*) - ABCA4_000250 - PubMed: Todorova 2017 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease Third family PubMed: Todorova 2017 - - ? - - - - - - 1 Stéphanie Cornelis
+/. 2 c.93G>A r.(?) p.(Trp31*) Unknown - pathogenic (recessive) g.94578596C>T g.94113040C>T c.93G>A p.(Trp31*) - ABCA4_000250 - PubMed: Lambertus 2017 - - Unknown - - - - - DNA ? - - retinal disease MEH 13 PubMed: Lambertus 2017 - M ? United Kingdom (Great Britain) - - - - - 1 Stéphanie Cornelis
+/. 2 c.93G>A r.(?) p.(Trp31*) Both (homozygous) - pathogenic (recessive) g.94578596C>T g.94113040C>T c.93G>A (p.Trp31*) - ABCA4_000250 - PubMed: Zernant 2017 - - Unknown yes - - - - DNA SEQ-NG-I - - retinal disease 3790 PubMed: Zernant 2017 - - ? United States - - - - - 1 Stéphanie Cornelis
+/. 2 c.93G>A r.(?) p.(Gln8Hisfs*33) Unknown - pathogenic (recessive) g.94578596C>T g.94113040C>T c.93G>A p.W31X - ABCA4_000250 - PubMed: Fakin 2016PubMed: Fakin 2016 - - Unknown - - - - - DNA ? - - retinal disease 4657 PubMed: Fakin 2016PubMed: Fakin 2016 - F ? United Kingdom (Great Britain) - - - - - 1 Stéphanie Cornelis
+/. 2 c.93G>A r.(?) p.(Gln8Hisfs*33) Unknown - pathogenic (recessive) g.94578596C>T g.94113040C>T c.93G>A p.W31X - ABCA4_000250 - PubMed: Fakin 2016 - - Unknown - - - - - DNA SEQ-NG - - retinal disease 20959 PubMed: Fakin 2016 - F ? - - - - - - 1 Stéphanie Cornelis
+/. 2 c.93G>A r.(?) p.(Trp31*) Unknown - pathogenic (recessive) g.94578596C>T - c.93G>A, p.Tyr31* - ABCA4_000250 - PubMed: Fujinami 2013 - - Unknown ? - - - - DNA PE, SSCA, SEQ - - retinal disease 44 PubMed: Fujinami 2013 - ? ? United Kingdom (Great Britain) - - - - - 1 LOVD
+/. - c.93G>A r.(?) p.(Trp31Ter) Unknown - pathogenic (recessive) g.94578596C>T g.94113040C>T - - ABCA4_000250 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Unknown - - - - - DNA SEQ-NG - - retinal disease L-0297 PubMed: Cornelis 2024, Journal: Cornelis 2024 - M - France - - - - - 1 Frans Cremers
+/. - c.93G>A r.(?) p.(Trp31Ter) Unknown - pathogenic (recessive) g.94578596C>T g.94113040C>T - - ABCA4_000250 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease L-0592 PubMed: Cornelis 2024, Journal: Cornelis 2024 - F - France - - - - - 1 Frans Cremers
+/. - c.93G>A r.(?) p.(Trp31Ter) Both (homozygous) - pathogenic (recessive) g.94578596C>T g.94113040C>T - - ABCA4_000250 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Germline/De novo (untested) - - - - - DNA SEQ - - retinal disease MEH-nonmild-401 PubMed: Cornelis 2024, Journal: Cornelis 2024 - F - United Kingdom (Great Britain) - - - - - 1 Stéphanie Cornelis
+/. - c.93G>A r.(?) p.(Trp31Ter) Both (homozygous) - pathogenic (recessive) g.94578596C>T g.94113040C>T - - ABCA4_000250 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Germline/De novo (untested) - - - - - DNA SEQ - - retinal disease MEH-nonmild-444 PubMed: Cornelis 2024, Journal: Cornelis 2024 - M - United Kingdom (Great Britain) - - - - - 1 Stéphanie Cornelis
+/. - c.93G>A r.(?) p.(Trp31Ter) Unknown - pathogenic (recessive) g.94578596C>T g.94113040C>T - - ABCA4_000250 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Germline/De novo (untested) - - - - - DNA SEQ - - retinal disease MEH-nonmild-130 PubMed: Cornelis 2024, Journal: Cornelis 2024 - M - United Kingdom (Great Britain) - - - - - 1 Stéphanie Cornelis
+/. - c.93G>A r.(?) p.(Trp31Ter) Unknown - pathogenic (recessive) g.94578596C>T g.94113040C>T - - ABCA4_000250 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Germline/De novo (untested) - - - - - DNA SEQ - - retinal disease MEH-other-54 PubMed: Cornelis 2024, Journal: Cornelis 2024 family, 2 affected F - United Kingdom (Great Britain) - - - - - 2 Stéphanie Cornelis
+/. - c.93G>A r.(?) p.(Trp31Ter) Unknown - pathogenic (recessive) g.94578596C>T g.94113040C>T - - ABCA4_000250 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Germline/De novo (untested) - - - - - DNA SEQ - - retinal disease MEH-nonmild-185 PubMed: Cornelis 2024, Journal: Cornelis 2024 relative of MEH-other-54 M - United Kingdom (Great Britain) - - - - - 1 Stéphanie Cornelis
+/. - c.93G>A r.(?) p.(Trp31Ter) Unknown - pathogenic (recessive) g.94578596C>T g.94113040C>T - - ABCA4_000250 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Germline/De novo (untested) - - - - - DNA SEQ - - retinal disease MEH-mild-137 PubMed: Cornelis 2024, Journal: Cornelis 2024 - F - United Kingdom (Great Britain) - - - - - 1 Stéphanie Cornelis
+/. - c.93G>A r.(?) p.(Trp31Ter) Unknown - pathogenic (recessive) g.94578596C>T g.94113040C>T - - ABCA4_000250 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Germline/De novo (untested) - - - - - DNA SEQ - - retinal disease MEH-other-69 PubMed: Cornelis 2024, Journal: Cornelis 2024 - F - United Kingdom (Great Britain) - - - - - 1 Stéphanie Cornelis
+/. - c.93G>A r.(?) p.(Trp31Ter) Unknown - pathogenic (recessive) g.94578596C>T g.94113040C>T - - ABCA4_000250 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Germline/De novo (untested) - - - - - DNA SEQ - - retinal disease MEH-nonmild-270 PubMed: Cornelis 2024, Journal: Cornelis 2024 - F - United Kingdom (Great Britain) - - - - - 1 Stéphanie Cornelis
+/. - c.93G>A r.(?) p.(Trp31Ter) Unknown - pathogenic (recessive) g.94578596C>T g.94113040C>T - - ABCA4_000250 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Germline/De novo (untested) - - - - - DNA SEQ - - retinal disease MEH-mild-228 PubMed: Cornelis 2024, Journal: Cornelis 2024 - M - United Kingdom (Great Britain) - - - - - 1 Stéphanie Cornelis
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