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.

26 entries on 1 page. Showing entries 1 - 26.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

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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     

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Age at death     

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+/. 27 c.3874C>T r.(?) p.(Gln1292*) Unknown - pathogenic g.94497588G>A g.94032032G>A - - ABCA4_000049 - PubMed: Bax 2014 - - Unknown - - - - - DNA SEQ - - STGD - PubMed: Bax 2015 2-generation family, 1 affected, unaffected heterozygous parents M no Netherlands - - - - - 1 Nathalie Bax
?/. 27 c.3874C>T r.(?) p.(Gln1292*) Unknown - VUS g.94497588G>A g.94032032G>A c.3874C>T - ABCA4_000049 - PubMed: Ernest 2009 - - Germline - 1, 117696, 0, 0.000008496 - - - 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
-?/. 27 c.3874C>T r.(?) p.(Gln1292*) Unknown - likely benign g.94497588G>A g.94032032G>A 3874C>T - ABCA4_000049 - PubMed: Westeneng-van Haaften 2012, PubMed: van Huet 2014 - - Germline - 1, 117696, 0, 0.000008496 - - - DNA PE, SEQ, MLPA - APEX STGD1 - PubMed: Westeneng-van Haaften 2012, PubMed: van Huet 2014 - M ? Netherlands ? - - - - 1 Stéphanie Cornelis
?/. 27 c.3874C>T r.(?) p.(Gln1292*) Unknown - VUS g.94497588G>A g.94032032G>A 3874C>T - ABCA4_000049 - PubMed: Westeneng-van Haaften 2012, PubMed: van Huet 2014 - - Germline - 1, 117696, 0, 0.000008496 - - - DNA PE, SEQ, MLPA - APEX STGD1 - PubMed: Westeneng-van Haaften 2012, PubMed: van Huet 2014 - F ? Netherlands ? - - - - 1 Stéphanie Cornelis
-?/. 27 c.3874C>T r.(?) p.(Gln1292*) Unknown - likely benign g.94497588G>A g.94032032G>A 3874C>T - ABCA4_000049 - PubMed: Westeneng-van Haaften 2012, PubMed: van Huet 2014 - - Germline - 1, 117696, 0, 0.000008496 - - - DNA PE, SEQ, MLPA - APEX STGD1 - PubMed: Westeneng-van Haaften 2012, PubMed: van Huet 2014 - M ? Netherlands ? - - - - 1 Stéphanie Cornelis
+?/. 27 c.3874C>T r.(?) p.(Gln1292*) Unknown - likely pathogenic g.94497588G>A g.94032032G>A c.3874C>T - ABCA4_000049 - PubMed: Riveiro-Alvarez 2013 - - Germline ? 1, 117696, 0, 0.000008496 - - - DNA PE, DHPLC, MCA, SEQ, MLPA, SEQ-NG - APEX CORD - PubMed: Riveiro-Alvarez 2013 - ? ? Spain ? - - - - 1 Stéphanie Cornelis
+?/. 27 c.3874C>T r.(?) p.(Gln1292*) Unknown - likely pathogenic g.94497588G>A g.94032032G>A c.3874C>T - ABCA4_000049 - PubMed: Lambertus 2015 - - Germline - 1, 117696, 0, 0.000008496 - - - DNA PE, MLPA, SEQ - APEX STGD1 - PubMed: Lambertus 2015 - ? ? Netherlands ? - - - - 1 Stéphanie Cornelis
+/. 27 c.3874C>T r.(3874c>u) p.(Gln1292Ter) Parent #1 ACMG pathogenic (recessive) g.94497588G>A g.94032032G>A - - ABCA4_000049 - PubMed: Cornelis 2017, Journal: Cornelis 2017, Journal: Cornelis 2023 - - SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.3874C>T r.(?) p.(Gln1292Ter) Unknown - pathogenic g.94497588G>A g.94032032G>A - - ABCA4_000049 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 27 c.3874C>T r.(?) p.(Gln1292*) Parent #1 - pathogenic (recessive) g.94497588G>A g.94032032G>A - - ABCA4_000049 - PubMed: Runhart 2018 - - Germline - - - - - DNA PCRh, SEQ-NG - - STGD1 FamNPatII1 PubMed: Runhart 2018 - - - - - - - - - 1 Stéphanie Cornelis
+/. 27 c.3874C>T r.(?) p.(Gln1292*) Unknown - pathogenic (recessive) g.94497588G>A g.94032032G>A c.3874C>T p.(Gln1292*) - ABCA4_000049 - PubMed: Lambertus 2016 - - Unknown - - - - - DNA ? - - retinal disease 49 PubMed: Lambertus 2016 50% of patients were M and 50% F - ? Netherlands - - - - - 1 Stéphanie Cornelis
+/. 27 c.3874C>T r.(?) p.(Gln1292*) Unknown - pathogenic (recessive) g.94497588G>A g.94032032G>A c.3874C>T p.(Gln1292*) - ABCA4_000049 - PubMed: Bax 2019 - - Unknown - - - - - DNA PE, SEQ - APEX retinal disease 13 PubMed: Bax 2019 - F ? Netherlands - - - - - 1 Stéphanie Cornelis
+/. 27 c.3874C>T r.(?) p.(Gln1292*) Unknown - pathogenic (recessive) g.94497588G>A g.94032032G>A c.3874C>T p.(Gln1292*) - ABCA4_000049 - PubMed: Bax 2019 - - Unknown - - - - - DNA PE, SEQ - APEX retinal disease 17 PubMed: Bax 2019 - M ? Netherlands - - - - - 1 Stéphanie Cornelis
+/. 27 c.3874C>T r.(?) p.(Gln1292*) Unknown - pathogenic (recessive) g.94497588G>A g.94032032G>A c.3874C>T, p.Gln1292Ter heterozygous - ABCA4_000049 - PubMed: Goetz 2020 - - Unknown - 1, 117696, 0, 0.000008496 - - - DNA arraySEQ, SEQ - Gene Chip retinal disease 6462-928 PubMed: Goetz 2020 - - ? - - - - - - 1 Stéphanie Cornelis
+/. 27 c.3874C>T r.(?) p.(Gln1292*) Unknown - pathogenic (recessive) g.94497588G>A g.94032032G>A c.3874C>T, p.Q1292X heterozygous - ABCA4_000049 - PubMed: Goetz 2020 - - Unknown - 1, 117696, 0, 0.000008496 - - - DNA arraySEQ, SEQ - Gene Chip retinal disease 6462-928 PubMed: Goetz 2020 - - ? - - - - - - 1 Stéphanie Cornelis
+/. 27 c.3874C>T r.(?) p.(Gln1292*) Unknown - pathogenic (recessive) g.94497588G>A - c.3874C>T p.(Gln1292*) - ABCA4_000049 - PubMed: Bax 2019 - - Unknown ? - - - - DNA PE, SEQ - - retinal disease 5 PubMed: Bax 2019 - ? ? Netherlands - - - - - 1 LOVD
+/. 27 c.3874C>T r.(?) p.(Gln1292*) Unknown - pathogenic (recessive) g.94497588G>A - c.3874C>T p.(Gln1292*) - ABCA4_000049 - PubMed: Bax 2019 - - Unknown ? - - - - DNA PE, SEQ - - retinal disease 8 PubMed: Bax 2019 - ? ? Netherlands - - - - - 1 LOVD
+/. 27 c.3874C>T r.(?) p.(Gln1292*) Unknown - pathogenic (recessive) g.94497588G>A - c.3874C>T p.(Gln1292*) - ABCA4_000049 - PubMed: Bax 2019 - - Unknown ? - - - - DNA PE, SEQ - - retinal disease 9 PubMed: Bax 2019 unknown 2nd chromosome ? ? Netherlands - - - - - 1 LOVD
+/. 27 c.3874C>T r.(?) p.(Gln1292*) Unknown - pathogenic (recessive) g.94497588G>A - c.3874C>T - ABCA4_000049 - PubMed: Khan 2020 - - Unknown - - - - - DNA MIPsm - smMIPs-based complete ABCA4 gene retinal disease 70708; MD-0852 PubMed: Khan 2020PubMed: Del Pozo-Valero 2020 - M - Spain - - - - - 1 LOVD
+/. 27 c.3874C>T r.(?) p.(Gln1292*) Parent #1 ACMG pathogenic (recessive) g.94497588G>A g.94032032G>A - - ABCA4_000049 - PubMed: Corradi 2023, Journal: Corradi 2023 - - Germline - - - - - DNA MIPsm, SEQ-NG - - retinal disease Pat229 PubMed: Corradi 2023, Journal: Corradi 2023 - F - - - - - - - 1 Zelia Corradi
+/. 27 c.3874C>T r.(?) p.(Gln1292*) Parent #1 ACMG pathogenic (recessive) g.94497588G>A g.94032032G>A - - ABCA4_000049 - PubMed: Corradi 2023, Journal: Corradi 2023 - - Germline - - - - - DNA MIPsm, SEQ-NG - - retinal disease Pat323 PubMed: Corradi 2023, Journal: Corradi 2023 - M - - - - - - - 1 Zelia Corradi
+/. 27 c.3874C>T r.(?) p.(Gln1292*) Parent #2 ACMG pathogenic (recessive) g.94497588G>A g.94032032G>A - - ABCA4_000049 - PubMed: Corradi 2023, Journal: Corradi 2023 - - Germline - - - - - DNA MIPsm, SEQ-NG - - retinal disease Pat303 PubMed: Corradi 2023, Journal: Corradi 2023 - M - - - - - - - 1 Zelia Corradi
+/. - c.3874C>T r.(?) p.(Gln1292Ter) Unknown - pathogenic (recessive) g.94497588G>A g.94032032G>A - - ABCA4_000049 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease L-0575 PubMed: Cornelis 2024, Journal: Cornelis 2024 - F - France - - - - - 1 Frans Cremers
+/. - c.3874C>T r.(?) p.(Gln1292Ter) Unknown - pathogenic (recessive) g.94497588G>A g.94032032G>A - - ABCA4_000049 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease L-0579 PubMed: Cornelis 2024, Journal: Cornelis 2024 - F - France - - - - - 1 Frans Cremers
+/. - c.3874C>T r.(?) p.(Gln1292Ter) Unknown - pathogenic (recessive) g.94497588G>A g.94032032G>A - - ABCA4_000049 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Unknown - - - - - DNA DHPLC, SEQ - - retinal disease L-0853 PubMed: Cornelis 2024, Journal: Cornelis 2024 - M - France - - - - - 1 Frans Cremers
+/. - c.3874C>T r.(?) p.(Gln1292Ter) Parent #2 - pathogenic (recessive) g.94497588G>A g.94032032G>A - - ABCA4_000049 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Germline yes - - - - DNA SEQ-NG-I - - retinal disease L-0568 PubMed: Cornelis 2024, Journal: Cornelis 2024 - F - France - - - - - 1 Frans Cremers
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