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.

33 entries on 1 page. Showing entries 1 - 33.
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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     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age at death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
+/. 30 c.4537del r.(?) p.(Gln1513Argfs*13) Unknown - pathogenic g.94495009del g.94029453del c.4537delC - ABCA4_000534 - PubMed: Aguirre-Lamban 2009, PubMed: Riveiro-Alvarez 2013 - - Germline ? - - - - DNA PCR, DHPLC, MCA, SEQ - - STGD1 - PubMed: Aguirre-Lamban 2009, PubMed: Riveiro-Alvarez 2013 - ? ? Spain ? - - - - 1 Stéphanie Cornelis
+/. 30 c.4537del r.(?) p.(Gln1513Argfs*13) Unknown - pathogenic g.94495009del g.94029453del 4537delC - ABCA4_000534 - PubMed: Burke 2010 - - Germline - - - - - DNA PE, SEQ - APEX STGD1 - PubMed: Burke 2010 - M ? - ? - - - - 1 Stéphanie Cornelis
+/. 30 c.4537del r.(?) p.(Gln1513Argfs*13) Unknown - pathogenic g.94495009del g.94029453del 4537delC - ABCA4_000534 - PubMed: Burke 2010 - - Germline - - - - - DNA PE, SEQ - APEX STGD1 - PubMed: Burke 2010 - F ? - ? - - - - 1 Stéphanie Cornelis
+/. 30 c.4537del r.(4537del) p.(Gln1513ArgfsTer13) Parent #1 ACMG pathogenic (recessive) g.94495009del g.94029453del - - ABCA4_000534 variant significantly enriched in >3000 likely Caucasian STGD1 patients compared to the non-Finnish ExAC population PubMed: Cornelis 2017, Journal: Cornelis 2017, Journal: Cornelis 2023 - - SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 30 c.4537del r.(?) p.(Gln1513Argfs*13) Parent #1 - likely pathogenic g.94495009del g.94029453del - - ABCA4_000534 - PubMed: Khan 2019 - - Unknown no - - - - DNA SEQ, MIPsm - - STGD1 ? PubMed: Khan 2019 - - - Germany - - - - - 1 Stéphanie Cornelis
+?/. 30 c.4537del r.(?) p.(Gln1513Argfs*13) Parent #1 - likely pathogenic g.94495009del g.94029453del - - ABCA4_000534 - PubMed: Khan 2019 - - Unknown no - - - - DNA SEQ, MIPsm - - STGD1 ? PubMed: Khan 2019 - - - France - - - - - 1 Stéphanie Cornelis
+?/. - c.4537del r.(?) p.(Gln1513Argfs*13) Parent #1 - likely pathogenic (recessive) g.94495003del g.94029447del - - ABCA4_000534 - PubMed: Holtan 2020 - - Germline - 2/899 cases - - - DNA SEQ - - retinal disease - PubMed: Holtan 2020 2 patients with variant in heterozygous or compound heterozygous form - - Norway - - - - - 2 Global Variome, with Curator vacancy
+/. - c.4537del r.(?) p.(Gln1513Argfs*13) Unknown - pathogenic (recessive) g.94495003del - 1:94495002TG>T ENST00000370225.3:c.4537delC (Gln1513ArgfsTer13) - ABCA4_000534 - PubMed: Carss 2017 - - Germline - - - - - DNA SEQ-NG - WGS retinal disease G007753 PubMed: Carss 2017 - M - United Kingdom (Great Britain) Europe - - - - 1 LOVD
+/. 30 c.4537del r.(?) p.(Gln1513Argfs*13) Unknown - pathogenic (recessive) g.94495009del g.94029453del P1511del1ccgC - ABCA4_000534 - PubMed: Aleman 2007 - - Unknown - - - - - DNA ? - - retinal disease 5 PubMed: Aleman 2007 - M ? United States - - - - - 1 Stéphanie Cornelis
+/. 30 c.4537del r.(?) p.(Gln1513Argfs*13) Parent #1 - pathogenic (recessive) g.94495009del g.94029453del Deletion CCTCCCG^CCCcCCCAG_E30I30_GTACC codon 1512 - ABCA4_000534 no variant 2nd chromosome PubMed: Aguirre-Lambán 2008 - - Unknown - - - - - DNA ? - - retinal disease Unknown 211 PubMed: Aguirre-Lambán 2008 - - ? Spain - - - - - 1 Stéphanie Cornelis
+/. 30 c.4537del r.(?) p.(Gln1513Argfs*13) Parent #1 - pathogenic (recessive) g.94495009del g.94029453del P1511del1ccgC - ABCA4_000534 - PubMed: Cideciyan 2012 - - Unknown yes - - - - DNA ? - - retinal disease P5 PubMed: Cideciyan 2012 - M ? United States - - - - - 1 Stéphanie Cornelis
+/. 30 c.4537del r.(?) p.(Gln1513Argfs*13) Parent #1 - pathogenic (recessive) g.94495009del g.94029453del c.4537del (p.Gln1513fs) - ABCA4_000534 - PubMed: Zernant 2017 - - Unknown yes - - - - DNA SEQ-NG-I - - retinal disease 5007 PubMed: Zernant 2017 - - ? United States - - - - - 1 Stéphanie Cornelis
+/. 30 c.4537del r.(?) p.(Gln1513Argfs*13) Unknown - pathogenic (recessive) g.94495009del g.94029453del c.4537del - ABCA4_000534 no variant 2nd chromosome PubMed: Holtan 2019 - - Unknown - - - - - DNA PE - APEX retinal disease Unknown 704 PubMed: Holtan 2019 - - ? Norway - - - - - 1 Stéphanie Cornelis
+/. 30 c.4537del r.(?) p.(Gln1513Argfs*13) Unknown - pathogenic (recessive) g.94495009del g.94029453del c.4537del - ABCA4_000534 no variant 2nd chromosome PubMed: Holtan 2019 - - Unknown - - - - - DNA PE - APEX retinal disease Unknown 705 PubMed: Holtan 2019 - - ? Norway - - - - - 1 Stéphanie Cornelis
+/. 30 c.4537del r.(?) p.(Gln1513Argfs*13) Unknown - pathogenic (recessive) g.94495009del g.94029453del c.4537delC - ABCA4_000534 - PubMed: Chen 2019 - - Unknown - - - - - DNA SEQ - - retinal disease 29 PubMed: Chen 2019 - M ? - white - - - - 1 Stéphanie Cornelis
+/. 30 c.4537del r.(?) p.(Gln1513Argfs*13) Unknown - pathogenic (recessive) g.94495009del g.94029453del c.4537delC p.Gln1513Argfs*13 het - ABCA4_000534 - Prevention Genetics - - Unknown - - - - - DNA SEQ-NG - STGDMD panel retinal disease 2018-103-040 Prevention Genetics - - ? - white - - - - 1 Stéphanie Cornelis
+/. 30 c.4537del r.(?) p.(Gln1513Argfs*13) Unknown - pathogenic (recessive) g.94495009del g.94029453del c.4537delC (p.Q1513fsX1525) - ABCA4_000534 - PubMed: Utz 2013 - - Unknown - - - - - DNA PE, SEQ - APEX retinal disease 3 PubMed: Utz 2013 - - ? United States African American - - - - 1 Stéphanie Cornelis
+/. 30 c.4537del r.(?) p.(Gln1513Argfs*13) Unknown - pathogenic (recessive) g.94495009del g.94029453del c.4537delC p.Q1513fs - ABCA4_000534 - PubMed: Fakin 2016PubMed: Fakin 2016 - - Unknown - - - - - DNA ? - - retinal disease 20531 PubMed: Fakin 2016PubMed: Fakin 2016 - F ? United Kingdom (Great Britain) - - - - - 1 Stéphanie Cornelis
+/. 30 c.4537del r.(?) p.(Gln1513Argfs*13) Parent #1 - pathogenic (recessive) g.94495009del g.94029453del c.[3608G>A;4537del] (p.[Gly1203Glu;Gln1513fs]) - ABCA4_000534 - PubMed: Zernant 2017 - - Unknown yes - - - - DNA SEQ-NG-I - - retinal disease 3401 PubMed: Zernant 2017 - - ? United States - - - - - 1 Stéphanie Cornelis
+/. 30 c.4537del r.(?) p.(Gln1513Argfs*13) Parent #2 - pathogenic (recessive) g.94495009del g.94029453del c.[2588G>C;5603A>T];[4537delC] - ABCA4_000534 - PubMed: Green 2020 - - Germline yes - - - - DNA SEQ - exons and flanking intronic regions retinal disease S13:II-2 PubMed: Green 2020 - - ? Canada - - - - - 1 Stéphanie Cornelis
+/. 30 c.4537del r.(?) p.(Gln1513Argfs*13) Unknown - pathogenic (recessive) g.94495009del g.94029453del ENST00000370225.3:c.4537delC p.Gln1513ArgfsTer13 0/1 - ABCA4_000534 - PubMed: Carss 2017 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease G007753 PubMed: Carss 2017 - M ? England white - - - - 1 Stéphanie Cornelis
+/. 30 c.4537del r.(?) p.(Gln1513Argfs*13) Unknown - pathogenic (recessive) g.94495009del g.94029453del c.4537delC p.(Gln1513Argfs*13) - ABCA4_000534 - PubMed: Sun 2020 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease 3951 PubMed: Sun 2020 - F ? China China - - - - 1 Stéphanie Cornelis
+/. 30 c.4537del r.(?) p.(Gln1513Argfs*13) Unknown - pathogenic (recessive) g.94495009del g.94029453del c.4537 delC, Q1513fs Heterozygous - ABCA4_000534 - PubMed: Goetz 2020 - - Unknown - - - - - DNA arraySEQ - Gene Chip retinal disease 116-798 PubMed: Goetz 2020 - - ? - - - - - - 1 Stéphanie Cornelis
+/. - c.4537del r.(?) p.(Gln1513Argfs*13) Unknown - pathogenic g.94495009del g.94029453del ABCA4 c.4537delC, p.Gln1513ArgfsTer13 - ABCA4_000534 heterozygous PubMed: Turro 2020 - - Germline/De novo (untested) ? - - - - DNA SEQ-NG-I blood whole genome sequencing retinal disease G007753 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.4537del r.(?) p.(Gln1513ArgfsTer13) Parent #1 - pathogenic (recessive) g.94495009del g.94029453del 4537delC - ABCA4_000534 - PubMed: Tian 2024 - - Germline yes - - - - DNA SEQ - - retinal disease - PubMed: Tian 2024 - M - China - - - - - 1 Lu Tian
+/. 30 c.4537del r.(?) p.(Gln1513Argfs*13) Unknown - pathogenic (recessive) g.94495003del - c.4537del - ABCA4_000534 - PubMed: Khan 2020 - - Unknown ? - - - - DNA MIPsm - smMIPs-based complete ABCA4 gene retinal disease 66661 PubMed: Khan 2019PubMed: Khan 2020 - F - Germany - - - - - 1 LOVD
+/. 30 c.4537del r.(?) p.(Gln1513Argfs*13) Unknown - pathogenic (recessive) g.94495003del - c.4537del - ABCA4_000534 - PubMed: Khan 2020 - - Unknown ? - - - - DNA MIPsm - smMIPs-based complete ABCA4 gene retinal disease 67117 PubMed: Khan 2019PubMed: Khan 2020 - F - France - - - - - 1 LOVD
+/. 3 c.4537del r.(?) p.(Gln1513Argfs*13) Parent #2 ACMG pathogenic (recessive) g.94495009del g.94029453del - - ABCA4_000534 - PubMed: Corradi 2023, Journal: Corradi 2023 - - Germline yes - - - - DNA MIPsm, SEQ-NG - - retinal disease Pat9 PubMed: Corradi 2023, Journal: Corradi 2023 - F - - - - - - - 1 Zelia Corradi
+/. - c.4537del r.(spl?) p.(Gln1513ArgfsTer13) Unknown - pathogenic (recessive) g.94495009del g.94029453del - - ABCA4_000534 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Unknown - - - - - DNA DHPLC, SEQ - - retinal disease L-0782 PubMed: Cornelis 2024, Journal: Cornelis 2024 - F - France - - - - - 1 Frans Cremers
+/. - c.4537del r.(spl?) p.(Gln1513ArgfsTer13) Parent #2 - pathogenic (recessive) g.94495009del g.94029453del - - ABCA4_000534 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Germline yes - - - - DNA SEQ-NG - - retinal disease L-1063 PubMed: Cornelis 2024, Journal: Cornelis 2024 - M - France - - - - - 1 Frans Cremers
+/. - c.4537del r.(?) p.(Gln1513ArgfsTer13) Unknown - pathogenic (recessive) g.94495009del g.94029453del - - ABCA4_000534 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Germline/De novo (untested) - - - - - DNA SEQ - - retinal disease MEH-mild-70 PubMed: Cornelis 2024, Journal: Cornelis 2024 - M - United Kingdom (Great Britain) - - - - - 1 Stéphanie Cornelis
+/. - c.4537del r.(?) p.(Gln1513ArgfsTer13) Unknown - pathogenic (recessive) g.94495009del g.94029453del - - ABCA4_000534 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Germline/De novo (untested) - - - - - DNA SEQ - - retinal disease MEH-mild-158 PubMed: Cornelis 2024, Journal: Cornelis 2024 - F - United Kingdom (Great Britain) - - - - - 1 Stéphanie Cornelis
+/. - c.4537del r.(?) p.(Gln1513ArgfsTer13) Unknown - pathogenic (recessive) g.94495009del g.94029453del - - ABCA4_000534 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Germline/De novo (untested) - - - - - DNA SEQ - - retinal disease MEH-mild-320 PubMed: Cornelis 2024, Journal: Cornelis 2024 - F - United Kingdom (Great Britain) - - - - - 1 Stéphanie Cornelis
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