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     

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DNA change (genomic) (hg19)     

DNA change (hg38)     

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Variant remarks     

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ClinVar ID     

dbSNP ID     

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Methylation     

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Disease     

ID_report     

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Panel size     

Owner     
+/. 8 c.950del r.(?) p.(Gly317Alafs*57) Paternal (confirmed) - pathogenic g.94546185del g.94080629del - - ABCA4_000350 - PubMed: Corton 2013 - - Germline - - - - - DNA SEQ-NG, PCR, SEQ - - RD - PubMed: Corton 2013 2-generation family, 2 affected F ? Switzerland Spanish - - - - 1 Stéphanie Cornelis
+/. 8 c.950del r.(?) p.(Gly317Alafs*57) Paternal (confirmed) - pathogenic g.94546185del g.94080629del - - ABCA4_000350 - PubMed: Corton 2013 - - Germline - - - - - DNA SEQ-NG, PCR, SEQ - - RD - PubMed: Corton 2013 2-generation family, 2 affected F ? Switzerland Spanish - - - - 1 Stéphanie Cornelis
+/. 8 c.950del r.(?) p.(Gly317Alafs*57) Unknown - pathogenic g.94546185del g.94080629del Met316del1 atG - ABCA4_000350 - PubMed: Schindler 2010 - - Germline ? - - - - DNA SNPlex, TaqMan, SSCA, SEQ - - STGD1 - PubMed: Schindler 2010 - ? ? United States Iowa - - - - 1 Stéphanie Cornelis
+/. 8 c.950del r.(950del) p.(Gly317AlafsTer57) Parent #1 ACMG pathogenic (recessive) g.94546185del g.94080629del - - ABCA4_000350 - PubMed: Cornelis 2017, Journal: Cornelis 2017, Journal: Cornelis 2023 - - SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
+/. 8 c.950del r.(?) p.(Gly317Alafs*57) Parent #1 - pathogenic g.94546185del g.94080629del - - ABCA4_000350 unknown variant 2nd allele PubMed: Khan 2019 - - Germline yes - - - - DNA SEQ, MIPsm - - STGD1 ? PubMed: Khan 2019 - - - France - - - - - 1 Stéphanie Cornelis
+?/. - c.950del r.(?) p.(Gly317Alafs*57) Parent #2 - likely pathogenic g.94546185del g.94080629del 948delG - ABCA4_000350 - PubMed: Stone 2017 - - Germline - - - - - DNA SEQ-NG - - retinal disease 728 PubMed: Stone 2017 family, 4 affected M - (United States) - - - - - 4 LOVD
+/. 8 c.950del r.(?) p.(Gly317Alafs*57) Unknown - pathogenic (recessive) g.94546185del g.94080629del c.950del p.(Gly317Alafs*57) - ABCA4_000350 - PubMed: Del Pozo-Valero 2020 - - Germline - - - - - DNA SEQ-NG - - retinal disease MD-0395 PubMed: Del Pozo-Valero 2020 - - ? Spain - - - - - 1 Stéphanie Cornelis
+/. 8 c.950del r.(?) p.(Gly317Alafs*57) Parent #1 - pathogenic (recessive) g.94546185del g.94080629del c.950del p.(Gly317Alafs*57) - ABCA4_000350 - PubMed: Del Pozo-Valero 2020 - - Germline yes - - - - DNA SEQ-NG - - retinal disease RP-0298 PubMed: Del Pozo-Valero 2020 - - ? Spain - - - - - 1 Stéphanie Cornelis
+/. 8 c.950del r.(?) p.(Gly317Alafs*57) Maternal (inferred) - pathogenic (recessive) g.94546185del g.94080629del m3: ABCA4 Ex.8 c.950del p.(Gly317Alafs*57) - ABCA4_000350 - PubMed: Martin-Merida 2018 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease RP-1455 III:1 PubMed: Martin-Merida 2018 son of patient RP-1455 II:2 M no Spain - - - - - 1 Stéphanie Cornelis
+/. 8 c.950del r.(?) p.(Gly317Alafs*57) Parent #2 - pathogenic (recessive) g.94546185del g.94080629del c.948delG Met316 del1atG - ABCA4_000350 - PubMed: Stone 2017 - - Unknown yes - - - - DNA SEQ-NG-I - - retinal disease 728 PubMed: Stone 2017 - M ? - - - - - - 1 Stéphanie Cornelis
+/. 8 c.950del r.(?) p.(Gly317Alafs*57) Parent #2 - pathogenic (recessive) g.94546185del g.94080629del c.950del p.(Gly317Alafs*57) - ABCA4_000350 - PubMed: Del Pozo-Valero 2020 - - Germline yes - - - - DNA SEQ-NG - - retinal disease MD-0783 PubMed: Del Pozo-Valero 2020 - - ? Spain - - - - - 1 Stéphanie Cornelis
+/. 8 c.950del r.(?) p.(Gly317Alafs*57) Unknown - pathogenic g.94546183del - c.950delG - ABCA4_000350 - PubMed: Corton-2013 - - Germline - - - - - DNA SEQ-NG blood WES retinal disease P95-0103 PubMed: Corton-2013 - - no - Spanish - - - - 1 LOVD
+/. 8 c.950del r.(?) p.(Gly317Alafs*57) Unknown - pathogenic (recessive) g.94546183del - c.950del - ABCA4_000350 - PubMed: Khan 2020 - - Unknown - - - - - DNA MIPsm - smMIPs-based complete ABCA4 gene retinal disease 71284 PubMed: Khan 2020 - F - - - - - - - 1 LOVD
+/. 8 c.950del r.(?) p.(Gly317Alafs*57) Parent #1 - pathogenic (recessive) g.94546183del - c.[950delG;5603A>T;6148G>C] - ABCA4_000350 unknown variant 2nd chromosome PubMed: Khan 2020 - - Unknown ? - - - - DNA MIPsm - smMIPs-based complete ABCA4 gene retinal disease 67131 PubMed: Khan 2019PubMed: Khan 2020 - M - France - - - - - 1 LOVD
+/. - c.950del r.(?) p.(Gly317AlafsTer57) Both (homozygous) - pathogenic (recessive) g.94546185del g.94080629del - - ABCA4_000350 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Unknown - - - - - DNA SEQ-NG - - retinal disease L-0113 PubMed: Cornelis 2024, Journal: Cornelis 2024 - F - France - - - - - 1 Frans Cremers
+/. - c.950del r.(?) p.(Gly317AlafsTer57) Unknown - pathogenic (recessive) g.94546185del g.94080629del - - ABCA4_000350 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Unknown - - - - - DNA SEQ-NG - - retinal disease L-0344 PubMed: Cornelis 2024, Journal: Cornelis 2024 - M - France - - - - - 1 Frans Cremers
+/. - c.950del r.(?) p.(Gly317AlafsTer57) Unknown - pathogenic (recessive) g.94546185del g.94080629del - - ABCA4_000350 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease L-0537 PubMed: Cornelis 2024, Journal: Cornelis 2024 - F - France - - - - - 1 Frans Cremers
+/. - c.950del r.(?) p.(Gly317AlafsTer57) Parent #1 - pathogenic (recessive) g.94546185del g.94080629del - - ABCA4_000350 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Germline yes - - - - DNA DHPLC, SEQ - - retinal disease L-0763 PubMed: Cornelis 2024, Journal: Cornelis 2024 - M - France - - - - - 1 Frans Cremers
+/. - c.950del r.(?) p.(Gly317AlafsTer57) Parent #1 ACMG pathogenic g.94546185del g.94080629del c.[950delG;5603A>T;6148G>C] - ABCA4_000350 case unsolved PubMed: Hitti-Malin 2024, Journal: Hitti-Malin 2024 - - Germline - - - - - DNA SEQ - smMIP-based 105 iMD/AMD genes macular dystrophy 067131 PubMed: Hitti-Malin 2024, Journal: Hitti-Malin 2024 - - - - - - - - - 1 Johan den Dunnen
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