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.

19 entries on 1 page. Showing entries 1 - 19.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Allele     

Classification method     

Clinical classification     

DNA change (genomic) (hg19)     

DNA change (hg38)     

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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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Age at death     

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Data_av     

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Panel size     

Owner     
+/. 44 c.6098T>G r.(?) p.(Leu2033Arg) Unknown - pathogenic g.94471046A>C g.94005490A>C c.6098T>G - ABCA4_000793 - PubMed: Duno 2012 - - Germline ? - - - - DNA MLPA, PE, MCA, PCR, SEQ - APEX CORD - PubMed: Duno 2012 - ? ? Denmark Scandinavian - - - - 1 Stéphanie Cornelis
+?/. 44 c.6098T>G r.(?) p.(Leu2033Arg) Unknown - likely pathogenic g.94471046A>C g.94005490A>C c.6098T>G - ABCA4_000793 - PubMed: Bauwens 2014 - - Germline - - - - - DNA SEQ-NG-I, PCR, SEQ - - STGD1 - PubMed: Bauwens 2014 4-generation family, 2 affected F ? Belgium ? - - - - 1 Stéphanie Cornelis
+/. 44 c.6098T>G r.(?) p.(Leu2033Arg) Unknown - pathogenic g.94471046A>C g.94005490A>C c.6098T>G - ABCA4_000793 - PubMed: Bauwens 2014 - - Germline - - - - - DNA SEQ-NG-I, PCR, SEQ - - ? - PubMed: Bauwens 2014 4-generation family, 2 affected F ? Belgium ? - - - - 1 Stéphanie Cornelis
+/. 44 c.6098T>G r.(6098u>g) p.(Leu2033Arg) Parent #1 ACMG pathogenic (recessive) g.94471046A>C g.94005490A>C - - ABCA4_000793 - PubMed: Cornelis 2017, Journal: Cornelis 2017, Journal: Cornelis 2023 - - SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 44 c.6098T>G r.(?) p.(Leu2033Arg) Parent #1 - likely pathogenic g.94471046A>C g.94005490A>C - - ABCA4_000793 - PubMed: Khan 2019 - - Unknown no - - - - DNA SEQ, MIPsm - - STGD1 ? PubMed: Khan 2019 - - - France - - - - - 1 Stéphanie Cornelis
+/. - c.6098T>G r.(?) p.(Leu2033Arg) Unknown - pathogenic (recessive) g.94471046A>C - 1:94471046A>C ENST00000370225.3:c.6098T>G (Leu2033Arg) - ABCA4_000793 - PubMed: Carss 2017 - - Germline - - - - - DNA SEQ-NG - WGS retinal disease G001416 PubMed: Carss 2017 - M - United Kingdom (Great Britain) Europe - - - - 1 LOVD
+?/. 44 c.6098T>G r.(?) p.(Leu2033Arg) Unknown - likely pathogenic (recessive) g.94471046A>C g.94005490A>C c.6098T>G p.(Leu2033Arg) - ABCA4_000793 no segregation analysis done PubMed: Khan 2019 - - Unknown - - - - - DNA SEQ-NG, MIPsm - smMIPs of exons and few intronic regions retinal disease 67209 PubMed: Khan 2019 - - ? France - - - - - 1 Stéphanie Cornelis
+?/. 44 c.6098T>G r.(?) p.(Leu2033Arg) Unknown - likely pathogenic (recessive) g.94471046A>C g.94005490A>C ENST00000370225.3:c.6098T>G p.Leu2033Arg 0/1 - ABCA4_000793 - PubMed: Carss 2017 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease G001416 PubMed: Carss 2017 - M ? England white - - - - 1 Stéphanie Cornelis
+?/. 44 c.6098T>G r.(?) p.(Leu2033Arg) Unknown - likely pathogenic (recessive) g.94471046A>C g.94005490A>C c.6098T>G, p.Leu2033Arg Heterozygous - ABCA4_000793 - PubMed: Goetz 2020 - - Unknown - - - - - DNA SEQ - - retinal disease 5951-7467 PubMed: Goetz 2020 - - ? - - - - - - 1 Stéphanie Cornelis
+?/. 44 c.6098T>G r.(?) p.(Leu2033Arg) Unknown - likely pathogenic (recessive) g.94471046A>C g.94005490A>C c.6098T>G p.(Leu2033Arg) - ABCA4_000793 - PubMed: Jespersgaard 2019 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease 19 PubMed: Jespersgaard 2019 - - ? Denmark - - - - - 1 Stéphanie Cornelis
+?/. 44 c.6098T>G r.(?) p.(Leu2033Arg) Unknown - likely pathogenic (recessive) g.94471046A>C g.94005490A>C c.6098T>G p.Leu2033Arg het - ABCA4_000793 - Prevention Genetics - - Unknown - - - - - DNA SEQ-NG - STGDMD panel retinal disease 2017-090-215 Prevention Genetics - - ? - - - - - - 1 Stéphanie Cornelis
+?/. - c.6098T>G r.(?) p.(Leu2033Arg) Unknown - likely pathogenic g.94471046A>C g.94005490A>C ABCA4 c.6098T>G, p.Leu2033Arg - ABCA4_000793 heterozygous PubMed: Turro 2020 - - Germline/De novo (untested) ? - - - - DNA SEQ-NG-I blood whole genome sequencing retinal disease G001416 PubMed: Turro 2020 only individuals with mutations in retinal disease genes from this publication were inserted into LOVD ? - (United Kingdom (Great Britain)) - - - - - 1 LOVD
+/. 44 c.6098T>G r.(?) p.(Leu2033Arg) Parent #2 ACMG pathogenic (recessive) g.94471046A>C g.94005490A>C - - ABCA4_000793 - PubMed: Corradi 2023, Journal: Corradi 2023 - - Germline - - - - - DNA MIPsm, SEQ-NG - - retinal disease Pat185 PubMed: Corradi 2023, Journal: Corradi 2023 - M - - - - - - - 1 Zelia Corradi
+/. 44 c.6098T>G r.(?) p.(Leu2033Arg) Unknown ACMG pathogenic (recessive) g.94471046A>C g.94005490A>C - - ABCA4_000793 - PubMed: Corradi 2023, Journal: Corradi 2023 - - Germline - - - - - DNA MIPsm, SEQ-NG - - retinal disease Pat199 PubMed: Corradi 2023, Journal: Corradi 2023 - M - - - - - - - 1 Zelia Corradi
+/. - c.6098T>G r.(?) p.(Leu2033Arg) Unknown - pathogenic (recessive) g.94471046A>C g.94005490A>C - - ABCA4_000793 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Unknown - - - - - DNA SEQ-NG - - retinal disease L-0099 PubMed: Cornelis 2024, Journal: Cornelis 2024 - F - France - - - - - 1 Frans Cremers
+/. - c.6098T>G r.(?) p.(Leu2033Arg) Unknown - pathogenic (recessive) g.94471046A>C g.94005490A>C - - ABCA4_000793 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease L-0126 PubMed: Cornelis 2024, Journal: Cornelis 2024 - F - France - - - - - 1 Frans Cremers
+/. - c.6098T>G r.(?) p.(Leu2033Arg) Unknown - pathogenic (recessive) g.94471046A>C g.94005490A>C - - ABCA4_000793 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Unknown - - - - - DNA SEQ-NG - - retinal disease L-0635 PubMed: Cornelis 2024, Journal: Cornelis 2024 - F - France - - - - - 1 Frans Cremers
+/. - c.6098T>G r.(?) p.(Leu2033Arg) Unknown - pathogenic (recessive) g.94471046A>C g.94005490A>C - - ABCA4_000793 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Germline/De novo (untested) - - - - - DNA SEQ - - retinal disease MEH-nonmild-356 PubMed: Cornelis 2024, Journal: Cornelis 2024 - M - United Kingdom (Great Britain) - - - - - 1 Stéphanie Cornelis
+/. - c.6098T>G r.(?) p.(Leu2033Arg) Unknown - pathogenic (recessive) g.94471046A>C g.94005490A>C - - ABCA4_000793 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Germline/De novo (untested) - - - - - DNA SEQ - - retinal disease MEH-nonmild-167 PubMed: Cornelis 2024, Journal: Cornelis 2024 - M - United Kingdom (Great Britain) - - - - - 1 Stéphanie Cornelis
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