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.

49 entries on 1 page. Showing entries 1 - 49.
Legend   How to query  

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     
+?/. 8 c.885del r.(?) p.(Leu296Cysfs*4) Unknown - likely pathogenic g.94546248del g.94080692del c.885delC - ABCA4_000352 - PubMed: Zernant 2011 - - Germline ? - - - - DNA PE, SEQ-NG, SEQ - APEX ? - PubMed: Zernant 2011 - ? ? - ? - - - - 1 Stéphanie Cornelis
+?/. 8 c.885del r.(?) p.(Leu296Cysfs*4) Unknown - likely pathogenic g.94546248del g.94080692del c.885delC - ABCA4_000352 - PubMed: Zernant 2011 - - Germline ? - - - - DNA PE, SEQ-NG, SEQ - APEX ? - PubMed: Zernant 2011 - ? ? - ? - - - - 1 Stéphanie Cornelis
?/. 8 c.885del r.(?) p.(Leu296Cysfs*4) Parent #1 - VUS g.94546248del g.94080692del c.885delC - ABCA4_000352 - PubMed: Zernant 2011, PubMed: Lee 2017, Journal: Lee 2017 - - Germline - - - - - DNA PE, SEQ-NG, SEQ - APEX ? - PubMed: Zernant 2011 - ? ? - ? - - - - 1 Stéphanie Cornelis
+?/. 8 c.885del r.(?) p.(Leu296Cysfs*4) Unknown - likely pathogenic g.94546248del g.94080692del c.885delC - ABCA4_000352 - PubMed: Zaneveld 2015 - - Germline ? - - - - DNA SEQ-NG-I, SEQ, arrayCGH - - STGD1 - PubMed: Zaneveld 2015 - ? ? China Chinese - - - - 1 Stéphanie Cornelis
+/. 8 c.885del r.(885del) p.(Leu296CysfsTer4) Parent #1 ACMG pathogenic (recessive) g.94546248del g.94080692del - - ABCA4_000352 - PubMed: Cornelis 2017, Journal: Cornelis 2017, Journal: Cornelis 2023 - - SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
+/. 8 c.885del r.(?) p.(Leu296Cysfs*4) Parent #2 - pathogenic g.94546248del g.94080692del - - ABCA4_000352 - PubMed: Khan 2019 - - Unknown no - - - - DNA SEQ, MIPsm - - STGD1 ? PubMed: Khan 2019 - - - Germany - - - - - 1 Stéphanie Cornelis
+/. - c.885del r.(?) p.(Leu296Cysfs*4) Unknown ACMG pathogenic g.94546248del g.94080692del 885delC - ABCA4_000352 - Zixi Sun 2020, submitted - - Germline/De novo (untested) - - - - - DNA SEQ-NG - gene panel STGD 8442 Zixi Sun 2020, submitted - F - China - - - - - 1 Zixi Sun
+/. - c.885del r.(?) p.(Leu296Cysfs*4) Both (homozygous) - pathogenic (recessive) g.94546248del - 1:94546247AG>A ENST00000370225.3:c.885delC (Leu296CysfsTer4) - ABCA4_000352 - PubMed: Carss 2017 - - Germline - - - - - DNA SEQ-NG - WGS retinal disease G001369 PubMed: Carss 2017 - F - United Kingdom (Great Britain) Asia-South - - - - 1 LOVD
+/. 8 c.885del r.(?) p.(Leu296Cysfs*4) Unknown ACMG pathogenic g.94546248del g.94080692del 885delC - ABCA4_000352 - Mena et al., 2020 submitted. - - Germline ? - - - - DNA SEQ-NG-IT - gene panel (ABCA4, CNGB3, ELOVL4, PROM1) STGD1 - Mena et al., 2020 submitted. - F no Argentina - - - - - 1 Marcela Mena
+/. 8 c.885del r.(?) p.(Leu296Cysfs*4) Unknown ACMG pathogenic g.94546248del - - - ABCA4_000352 - Mena et al., 2020 submitted - rs764759172 Germline ? - - - - DNA SEQ-NG-IT blood gene panel (ABCA4, CNGB3, ELOVL4, PROM1) STGD1 - Mena et al., 2020 submitted. - M no Argentina - - - - - 1 Marcela Mena
+/. 8 c.885del r.(?) p.(Leu296Cysfs*4) Unknown ACMG pathogenic g.94546248del - - - ABCA4_000352 - Mena et al., 2020 submitted - rs764759172 Germline ? - - - - DNA SEQ-NG-IT blood gene panel (ABCA4, CNGB3, ELOVL4, PROM1) STGD1 - Mena et al., 2020 submitted. - F no Argentina - - - - - 1 Marcela Mena
+/. 8 c.885del r.(?) p.(Leu296Cysfs*4) Parent #1 - pathogenic (recessive) g.94546248del g.94080692del c.885del - ABCA4_000352 - PubMed: Lee 2014 - - Unknown yes - - - - DNA PE, SEQ - APEX retinal disease P23 PubMed: Lee 2014 possibly reported before by Zernant and/or Burke - ? United States India - - - - 1 Stéphanie Cornelis
+/. 8 c.885del r.(?) p.(Leu296Cysfs*4) Both (homozygous) - pathogenic (recessive) g.94546248del g.94080692del c.885delC p.D295fs - ABCA4_000352 - PubMed: Fakin 2016 - - Unknown - - - - - DNA ? - - retinal disease 14570 PubMed: Fakin 2016 - - ? United Kingdom (Great Britain) - - - - - 1 Stéphanie Cornelis
+/. 8 c.885del r.(?) p.(Leu296Cysfs*4) Parent #1 - pathogenic (recessive) g.94546248del g.94080692del c.885delC p.L296CfsX4 - ABCA4_000352 - PubMed: Lin 2016 - - Unknown yes - - - - DNA SEQ-NG-I - WES retinal disease F4:II:1 PubMed: Lin 2016 - F no China China - - - - 1 Stéphanie Cornelis
+/. 8 c.885del r.(?) p.(Leu296Cysfs*4) Unknown - pathogenic (recessive) g.94546248del g.94080692del c.885del - ABCA4_000352 - PubMed: Lee 2017 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease 76910 PubMed: Lee 2017 - M ? - India - - - - 1 Stéphanie Cornelis
+/. 8 c.885del r.(?) p.(Leu296Cysfs*4) Parent #1 - pathogenic (recessive) g.94546248del g.94080692del c.885del (p.Leu296fs) - ABCA4_000352 - PubMed: Zernant 2017 - - Unknown yes - - - - DNA SEQ-NG-I - - retinal disease 3562 PubMed: Zernant 2017 - - ? United States - - - - - 1 Stéphanie Cornelis
+/. 8 c.885del r.(?) p.(Leu296Cysfs*4) Unknown - pathogenic (recessive) g.94546248del g.94080692del c.885del (p.Leu296fs) - ABCA4_000352 no segregation analysis done PubMed: Zernant 2017 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease 3170 PubMed: Zernant 2017 - - ? United States - - - - - 1 Stéphanie Cornelis
+/. 8 c.885del r.(?) p.(Leu296Cysfs*4) Unknown - pathogenic (recessive) g.94546248del g.94080692del p.L296fs - ABCA4_000352 - PubMed: Tanaka 2018 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease 2 PubMed: Tanaka 2018 - M ? - white - - - - 1 Stéphanie Cornelis
+/. 8 c.885del r.(?) p.(Leu296Cysfs*4) Unknown - pathogenic (recessive) g.94546248del g.94080692del p.Leu296fs - ABCA4_000352 no variant 2nd chromosome PubMed: Zhao 2018 - - Unknown - - - - - DNA SEQ-NG - - retinal disease Unknown 605 PubMed: Zhao 2018 mutations were not reported per patient; these 33 mutations were present in 14 patients - ? United States - - - - - 1 Stéphanie Cornelis
+/. 8 c.885del r.(?) p.(Leu296Cysfs*4) Unknown - pathogenic (recessive) g.94546248del g.94080692del c.885delC,p.Asp295AspfsTer5 - ABCA4_000352 - PubMed: Fujinami 2019 - - Unknown - - - - - DNA SEQ-NG - SEQ-NG (143 cases), APEX (44 cases), SSCP (24 cases), SEQ (134) retinal disease 13079 PubMed: Fujinami 2019 191 F, 154 M in this study - ? France - - - - - 1 Stéphanie Cornelis
+/. 8 c.885del r.(?) p.(Leu296Cysfs*4) Unknown - pathogenic (recessive) g.94546248del g.94080692del c.885delC p.Asp295AspfsTer5 - ABCA4_000352 - PubMed: Tanna 2019 - - Unknown - - - - - DNA ? - - retinal disease P43 PubMed: Tanna 2019 - M ? - - - - - - 1 Stéphanie Cornelis
+/. 8 c.885del r.(?) p.(Leu296Cysfs*4) Unknown - pathogenic (recessive) g.94546248del g.94080692del c.885delC p.Leu296Cysfs*4 - ABCA4_000352 no segregation analysis done PubMed: Hull 2020 - - Unknown - - - - - DNA PE, SEQ-NG - APEX or SEQ-NG retinal disease Unknown 1119 PubMed: Hull 2020 - - ? New Zealand India - - - - 1 Stéphanie Cornelis
+/. 8 c.885del r.(?) p.(Leu296Cysfs*4) Both (homozygous) - pathogenic (recessive) g.94546248del g.94080692del ENST00000370225.3:c.885delC p.Leu296CysfsTer4 1/1 - ABCA4_000352 - PubMed: Carss 2017 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease G001369 PubMed: Carss 2017 - F ? England Asia-S - - - - 1 Stéphanie Cornelis
+/. 8 c.885del r.(?) p.(Leu296Cysfs*4) Unknown - pathogenic (recessive) g.94546248del g.94080692del c.885del p.(Leu296Cysfs*4) - ABCA4_000352 no variant 2nd chromosome PubMed: Jespersgaard 2019 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease 339 PubMed: Jespersgaard 2019 - - ? Denmark - - - - - 1 Stéphanie Cornelis
+/. 8 c.885del r.(?) p.(Leu296Cysfs*4) Unknown - pathogenic (recessive) g.94546248del g.94080692del c.885delC p.(Leu296Cysfs*4) - ABCA4_000352 - PubMed: Sun 2020 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease 8442 PubMed: Sun 2020 - F ? China China - - - - 1 Stéphanie Cornelis
+/. 8 c.885del r.(?) p.(Leu296Cysfs*4) Unknown - pathogenic (recessive) g.94546248del g.94080692del c.885delC p.(Leu296Cysfs*4) - ABCA4_000352 - PubMed: Sun 2020 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease S66 PubMed: Sun 2020 - M ? China China - - - - 1 Stéphanie Cornelis
+/. 8 c.885del r.(?) p.(Leu296Cysfs*4) Unknown - pathogenic (recessive) g.94546248del g.94080692del c.885delC, p.Leu296fs Heterozygous - ABCA4_000352 - PubMed: Goetz 2020 - - Unknown - - - - - DNA SEQ - - retinal disease 614-1129 PubMed: Goetz 2020 - - ? - - - - - - 1 Stéphanie Cornelis
+/. 8 c.885del r.(?) p.(Leu296Cysfs*4) Unknown - pathogenic (recessive) g.94546248del g.94080692del c.885delC p.D295fs - ABCA4_000352 - PubMed: Fakin 2016PubMed: Fakin 2016 - - Unknown - - - - - DNA ? - - retinal disease 15017,1 PubMed: Fakin 2016PubMed: Fakin 2016 sibling of 15017.2 M ? United Kingdom (Great Britain) - - - - - 1 Stéphanie Cornelis
+/. 8 c.885del r.(?) p.(Leu296Cysfs*4) Unknown - pathogenic (recessive) g.94546248del g.94080692del c.885delC p.D295fs - ABCA4_000352 - PubMed: Fakin 2016PubMed: Fakin 2016 - - Unknown - - - - - DNA ? - - retinal disease 15017,2 PubMed: Fakin 2016PubMed: Fakin 2016 sibling of 15017.1 M ? United Kingdom (Great Britain) - - - - - 1 Stéphanie Cornelis
+/. 8 c.885del r.(?) p.(Leu296Cysfs*4) Unknown - pathogenic (recessive) g.94546248del g.94080692del c.885del (p.Leu296fs) - ABCA4_000352 no segregation analysis done PubMed: Zernant 2017 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease 3395 PubMed: Zernant 2017 - - ? United States - - - - - 1 Stéphanie Cornelis
+/. 8 c.885del r.(?) p.(Leu296Cysfs*4) Unknown - pathogenic (recessive) g.94546248del g.94080692del c.885del p.(Leu296Cysfs*4) - ABCA4_000352 no segregation analysis done PubMed: Khan 2019 - - Unknown - - - - - DNA SEQ-NG, MIPsm - smMIPs of exons and few intronic regions retinal disease 66701 PubMed: Khan 2019 - - ? Germany - - - - - 1 Stéphanie Cornelis
+/. 8 c.885del r.(?) p.(Leu296Cysfs*4) Unknown - pathogenic (recessive) g.94546248del g.94080692del c.885del p.(Leu296Cysfs*4) - ABCA4_000352 - PubMed: Jespersgaard 2019 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease 30 PubMed: Jespersgaard 2019 - - ? Denmark - - - - - 1 Stéphanie Cornelis
+/. 8 c.885del r.(?) p.(Leu296Cysfs*4) Unknown - pathogenic (recessive) g.94546248del g.94080692del c.885delC p.(Leu296Cysfs*4) - ABCA4_000352 - PubMed: Sun 2020 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease 7687 PubMed: Sun 2020 - M ? China China - - - - 1 Stéphanie Cornelis
+/. 8 c.885del r.(?) p.(Leu296Cysfs*4) Unknown - pathogenic (recessive) g.94546248del g.94080692del c.885delC, p.Leu296Cysfs*4 Heterozygous - ABCA4_000352 - PubMed: Goetz 2020 - - Unknown - - - - - DNA SEQ-NG-I - solid state SBS retinal disease 1016-1540 PubMed: Goetz 2020 - - ? - - - - - - 1 Stéphanie Cornelis
+/. 8 c.885del r.(?) p.(Leu296Cysfs*4) Unknown - pathogenic (recessive) g.94546248del g.94080692del c.885delC, p.Leu296Cysfs Heterozygous - ABCA4_000352 - PubMed: Goetz 2020 - - Unknown - - - - - DNA arraySEQ, SEQ - Gene Chip retinal disease 615-1129 PubMed: Goetz 2020 615 is a family member of 614 - ? - - - - - - 1 Stéphanie Cornelis
+/. - c.885del r.(?) p.(Leu296Cysfs*4) Both (homozygous) - pathogenic g.94546248del g.94080692del ABCA4 c.885delC, p.Leu296CysfsTer4 - ABCA4_000352 homozygous PubMed: Turro 2020 - - Germline/De novo (untested) ? - - - - DNA SEQ-NG-I blood whole genome sequencing retinal disease G001369 PubMed: Turro 2020 only individuals with mutations in retinal disease genes from this publication were inserted into LOVD ? - (United Kingdom (Great Britain)) - - - - - 1 LOVD
+/. 8 c.885del r.(?) p.(Leu296Cysfs*4) Maternal (confirmed) ACMG pathogenic (recessive) g.94546248del g.94080692del - - ABCA4_000352 - Bianco 2023, submitted - - Germline yes - - - - DNA SEQ-NG-I Peripheral Blood Sample - STGD1 601691#7 Bianco 2023, submitted - F no Italy - - - - - 1 Lorenzo Bianco
+/. 8 c.885del r.(?) p.(Leu296Cysfs*4) Parent #1 ACMG pathogenic (recessive) g.94546248del g.94080692del - - ABCA4_000352 - PubMed: Corradi 2023, Journal: Corradi 2023 - - Germline - - - - - DNA MIPsm, SEQ-NG - - retinal disease Pat56 PubMed: Corradi 2023, Journal: Corradi 2023 - F - - - - - - - 1 Zelia Corradi
+/. 8 c.885del r.(?) p.(Leu296Cysfs*4) Parent #1 ACMG pathogenic (recessive) g.94546248del g.94080692del - - ABCA4_000352 - PubMed: Corradi 2023, Journal: Corradi 2023 - - Germline - - - - - DNA MIPsm, SEQ-NG - - retinal disease Pat119 PubMed: Corradi 2023, Journal: Corradi 2023 - F - - - - - - - 1 Zelia Corradi
+/. - c.885del r.(?) p.(Leu296CysfsTer4) Parent #1 - pathogenic (recessive) g.94546248del g.94080692del - - ABCA4_000352 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Germline yes - - - - DNA SEQ-NG - - retinal disease L-0396 PubMed: Cornelis 2024, Journal: Cornelis 2024 - F - France - - - - - 1 Frans Cremers
+/. - c.885del r.(?) p.(Leu296CysfsTer4) Parent #1 - pathogenic (recessive) g.94546248del g.94080692del - - ABCA4_000352 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Germline yes - - - - DNA SEQ-NG-I - - retinal disease L-0557 PubMed: Cornelis 2024, Journal: Cornelis 2024 - F - France - - - - - 1 Frans Cremers
+/. - c.885del r.(?) p.(Leu296CysfsTer4) Parent #1 - pathogenic (recessive) g.94546248del g.94080692del - - ABCA4_000352 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Germline yes - - - - DNA DHPLC, SEQ - - retinal disease L-0803 PubMed: Cornelis 2024, Journal: Cornelis 2024 - F - France - - - - - 1 Frans Cremers
+/. - c.885del r.(?) p.(Leu296CysfsTer4) Both (homozygous) - pathogenic (recessive) g.94546248del g.94080692del - - ABCA4_000352 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Germline yes - - - - DNA DHPLC, SEQ - - retinal disease L-0868 PubMed: Cornelis 2024, Journal: Cornelis 2024 - M - France - - - - - 1 Frans Cremers
+/. - c.885del r.(?) p.(Leu296CysfsTer4) Both (homozygous) - pathogenic (recessive) g.94546248del g.94080692del - - ABCA4_000352 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Germline yes - - - - DNA DHPLC, SEQ - - retinal disease L-0868 PubMed: Cornelis 2024, Journal: Cornelis 2024 - M - France - - - - - 1 Frans Cremers
+/. - c.885del r.(?) p.(Leu296CysfsTer4) Both (homozygous) - pathogenic (recessive) g.94546248del g.94080692del - - ABCA4_000352 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Germline/De novo (untested) - - - - - DNA SEQ - - retinal disease MEH-nonmild-76 PubMed: Cornelis 2024, Journal: Cornelis 2024 - F - United Kingdom (Great Britain) - - - - - 1 Stéphanie Cornelis
+/. - c.885del r.(?) p.(Leu296CysfsTer4) Unknown - pathogenic (recessive) g.94546248del g.94080692del - - ABCA4_000352 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Germline/De novo (untested) - - - - - DNA SEQ - - retinal disease MEH-mild-43 PubMed: Cornelis 2024, Journal: Cornelis 2024 - M - United Kingdom (Great Britain) - - - - - 1 Stéphanie Cornelis
?/. - c.885del r.(?) p.(Leu296CysfsTer4) Unknown - VUS g.94546248del g.94080692del - - ABCA4_000352 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Germline/De novo (untested) - - - - - DNA SEQ - - retinal disease MEH-nonmild-327 PubMed: Cornelis 2024, Journal: Cornelis 2024 - M - United Kingdom (Great Britain) - - - - - 1 Stéphanie Cornelis
+/. 8 c.885del r.(?) p.(Leu296CysfsTer4) Parent #1 ACMG pathogenic g.94546248del g.94080692del - - ABCA4_000352 - PubMed: Hitti-Malin 2024, Journal: Hitti-Malin 2024 - - Germline - - - - - DNA SEQ, SEQ-NG - smMIP-based 105 iMD/AMD genes macular dystrophy 074748 PubMed: Hitti-Malin 2024, Journal: Hitti-Malin 2024 - F - - - - - - - 1 Rebekkah Hitti-Malin
+/. - c.885delC r.(?) p.(Leu296Cysfs*4) Paternal (confirmed) ACMG pathogenic (recessive) g.94546248del g.94080692del 885delC - ABCA4_000352 - Zixi Sun 2020, submitted - - Germline - - - - - DNA SEQ-NG - gene panel CORD 7687 Zixi Sun 2020, submitted - M - China - - - - - 1 Zixi Sun
Legend   How to query  


Screenscraping/webscraping (downloading large amounts of data using scripts) is strictly prohibited.
Use our APIs to retrieve data.