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.

16 entries on 1 page. Showing entries 1 - 16.
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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     

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Remarks     

Gender     

Consanguinity     

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Age at death     

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Data_av     

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Panel size     

Owner     
+?/. 3 c.223T>G r.(?) p.(Cys75Gly) Unknown - likely pathogenic g.94577073A>C g.94111517A>C C75G - ABCA4_000231 - PubMed: Lewis 1999 - - Germline - - - - - DNA SSCA, HD, SEQ - - STGD1 - PubMed: Lewis 1999 3-generation family, 1 affected M ? United States white - - - - 1 Stéphanie Cornelis
?/. 3 c.223T>G r.(?) p.(Cys75Gly) Unknown - VUS g.94577073A>C g.94111517A>C 223T > G - ABCA4_000231 - PubMed: Webster 2001 - - Germline - - - - - DNA SSCA, SEQ - - STGD1 - PubMed: Webster 2001 Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome. ? ? United States - - - - - 1 Stéphanie Cornelis
?/. 3 c.223T>G r.(?) p.(Cys75Gly) Unknown - VUS g.94577073A>C g.94111517A>C 223T > G - ABCA4_000231 - PubMed: Webster 2001 - - Germline - - - - - DNA SSCA, SEQ - - STGD1 - PubMed: Webster 2001 Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome. ? ? United States - - - - - 1 Stéphanie Cornelis
+?/. 3 c.223T>G r.(?) p.(Cys75Gly) Unknown - likely pathogenic g.94577073A>C g.94111517A>C c.223T>G - ABCA4_000231 - PubMed: Fujinami 2013 - - Germline - - - - - DNA PE, PCR, SEQ, SEQ-NG-R - APEX ? - PubMed: Fujinami 2013 - ? ? United Kingdom (Great Britain) ? - - - - 1 Stéphanie Cornelis
?/. 3 c.223T>G r.(?) p.(Cys75Gly) Unknown - VUS g.94577073A>C g.94111517A>C c.223T>C, p.Cys75Gly - ABCA4_000231 - PubMed: Fujinami 2013 - - Germline - - - - - DNA SSCA, PE - APEX ? - PubMed: Fujinami 2013 - ? ? - ? - - - - 1 Stéphanie Cornelis
+/. 3 c.223T>G r.(223u>g) p.(Cys75Gly) Parent #1 ACMG pathogenic (recessive) g.94577073A>C g.94111517A>C - - ABCA4_000231 - PubMed: Cornelis 2017, Journal: Cornelis 2017, Journal: Cornelis 2023 - - SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.223T>G r.(?) p.(Cys75Gly) Unknown - pathogenic (recessive) g.94577073A>C - 1:94577073A>C ENST00000370225.3:c.223T>G (Cys75Gly) - ABCA4_000231 - PubMed: Carss 2017 - - Germline - - - - - DNA SEQ-NG - WGS retinal disease G007675 PubMed: Carss 2017 - F - United Kingdom (Great Britain) Europe - - - - 1 LOVD
+?/. 3 c.223T>G r.(?) p.(Cys75Gly) Unknown - likely pathogenic g.94577073A>C - - - ABCA4_000231 - Mena et al., 2020 submitted - rs61748526 Germline ? - - - - DNA SEQ-NG-IT blood gene panel (ABCA4, CNGB3, ELOVL4, PROM1) STGD1 - Mena et al., 2020 submitted. - F no Argentina - - - - - 1 Marcela Mena
+?/. 3 c.223T>G r.(?) p.(Cys75Gly) Unknown - likely pathogenic (recessive) g.94577073A>C g.94111517A>C c.223T>G p.Cys75Gly - ABCA4_000231 no segregation analysis done PubMed: Salles 2018 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease 29 PubMed: Salles 2018 - F ? Brazil - - - - - 1 Stéphanie Cornelis
+?/. 3 c.223T>G r.(?) p.(Cys75Gly) Parent #1 - likely pathogenic (recessive) g.94577073A>C g.94111517A>C c.223T>G p.(Cys75Gly) - ABCA4_000231 - PubMed: Del Pozo-Valero 2020 - - Germline yes - - - - DNA SEQ-NG - - retinal disease MD-0033 PubMed: Del Pozo-Valero 2020 - - ? Spain - - - - - 1 Stéphanie Cornelis
+?/. 3 c.223T>G r.(?) p.(Cys75Gly) Unknown - likely pathogenic (recessive) g.94577073A>C g.94111517A>C c.223T>G p.(Cys75Gly) - ABCA4_000231 - PubMed: Del Pozo-Valero 2020 - - Germline - - - - - DNA SEQ-NG - - retinal disease MD-0870 PubMed: Del Pozo-Valero 2020 - - ? Spain - - - - - 1 Stéphanie Cornelis
+?/. 3 c.223T>G r.(?) p.(Cys75Gly) Unknown - likely pathogenic (recessive) g.94577073A>C g.94111517A>C ENST00000370225.3:c.223T>G p.Cys75Gly 0/1 - ABCA4_000231 - PubMed: Carss 2017 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease G007675 PubMed: Carss 2017 - F ? England white - - - - 1 Stéphanie Cornelis
+?/. 3 c.223T>G r.(?) p.(Cys75Gly) Unknown - likely pathogenic (recessive) g.94577073A>C g.94111517A>C c.223T>G, p.Cys75Gly Heterozygous - ABCA4_000231 - PubMed: Goetz 2020 - - Unknown - - - - - DNA SEQ-NG-I - solid state SBS retinal disease 2242-2869 PubMed: Goetz 2020 - - ? - - - - - - 1 Stéphanie Cornelis
+?/. - c.223T>G r.(?) p.(Cys75Gly) Unknown - likely pathogenic g.94577073A>C g.94111517A>C ABCA4 c.223T>G, p.Cys75Gly - ABCA4_000231 heterozygous PubMed: Turro 2020 - - Germline/De novo (untested) ? - - - - DNA SEQ-NG-I blood whole genome sequencing retinal disease G007675 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.223T>G r.(?) p.(Cys75Gly) Unknown - pathogenic (recessive) g.94577073A>C g.94111517A>C - - ABCA4_000231 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Germline/De novo (untested) - - - - - DNA SEQ - - retinal disease MEH-other-26 PubMed: Cornelis 2024, Journal: Cornelis 2024 family, 2 affected F - United Kingdom (Great Britain) - - - - - 2 Stéphanie Cornelis
+/. - c.223T>G r.(?) p.(Cys75Gly) Unknown - pathogenic (recessive) g.94577073A>C g.94111517A>C - - ABCA4_000231 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Germline/De novo (untested) - - - - - DNA SEQ - - retinal disease MEH-nonmild-91 PubMed: Cornelis 2024, Journal: Cornelis 2024 relative of MEH-other-26 F - United Kingdom (Great Britain) - - - - - 1 Stéphanie Cornelis
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