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.

40 entries on 1 page. Showing entries 1 - 40.
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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     
+/. 11 c.1531C>T r.(?) p.(Arg511Cys) Unknown - pathogenic g.94543269G>A g.94077713G>A - - ABCA4_000307 On its own not significantely found more often in published STGD compared to ExAC (p-value 0.37). However, together with other non-significant variants published related to STGD, they are significantly more often in STGD patients (p-value <0.01). PubMed: Huang 2015 - - Germline - ExAC 26, 120500, 0, 0.0002158 - - - DNA SEQ-NG-I, PCR, SEQ - - RD - PubMed: Huang 2015 - ? ? China Chinese - - - - 1 Stéphanie Cornelis
+?/. 11 c.1531C>T r.(?) p.(Arg511Cys) Both (homozygous) - likely pathogenic g.94543269G>A g.94077713G>A c.1531C>T - ABCA4_000307 On its own not significantely found more often in published STGD compared to ExAC (p-value 0.37). However, together with other non-significant variants published related to STGD, they are significantly more often in STGD patients (p-value <0.01). PubMed: Zernant 2011, PubMed: Lee 2017, Journal: Lee 2017 - - Germline ? 26, 120500, 0, 0.0002158 - - - DNA PE, SEQ-NG, SEQ - APEX ? - PubMed: Zernant 2011 - ? ? - ? - - - - 1 Stéphanie Cornelis
+?/. 11 c.1531C>T r.(1531c>u) p.(Arg511Cys) Parent #1 ACMG likely pathogenic (recessive) g.94543269G>A g.94077713G>A - - ABCA4_000307 - PubMed: Cornelis 2017, Journal: Cornelis 2017, Journal: Cornelis 2023 - - SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1531C>T r.(?) p.(Arg511Cys) Unknown - pathogenic g.94543269G>A g.94077713G>A - - ABCA4_000307 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 - rs752786160 Germline - 1/1204 cases with retinitis pigmentosa - - - DNA SEQ-NG - - retinal disease - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 analysis 1204 retinitis pigmentosa cases - - Japan - - - - - 1 Yoshito Koyanagi
+?/. - c.1531C>T r.(?) p.(Arg511Cys) Parent #1 ACMG likely pathogenic g.94543269G>A - c.[1531C>T; 872C>T] - ABCA4_000307 - PubMed: Sharon 2019 - - Germline - 1/2420 IRD families - - - DNA SEQ - - retinal disease - PubMed: Sharon 2019 1 IRD family - - Israel - - - - - 1 Global Variome, with Curator vacancy
+?/. - c.1531C>T r.(?) p.(Arg511Cys) Unknown - likely pathogenic g.94543269G>A - ABCA4(NM_000350.2):c.1531C>T (p.R511C) - ABCA4_000307 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 11 c.1531C>T r.(?) p.(Arg511Cys) Unknown - pathogenic (recessive) g.94543269G>A g.94077713G>A - - ABCA4_000307 - PubMed: Birtel 2018 - - Germline - - - - - DNA SEQ - - retinal disease Pat79 PubMed: Birtel 2018 patient F - Germany - - - - - 1 LOVD
+?/. 11 c.1531C>T r.(?) p.(Arg511Cys) Unknown - likely pathogenic (recessive) g.94543269G>A g.94077713G>A p.R511C - ABCA4_000307 no segregation analysis done PubMed: Jiang 2016 - - Unknown - - - - - DNA PCR, SEQ - - retinal disease 10017 PubMed: Jiang 2016 - - ? China - - - - - 1 Stéphanie Cornelis
+?/. 11 c.1531C>T r.(?) p.(Arg511Cys) Unknown - likely pathogenic (recessive) g.94543269G>A g.94077713G>A p.R511C - ABCA4_000307 no segregation analysis done PubMed: Jiang 2016 - - Unknown - - - - - DNA PCR, SEQ - - retinal disease 10200 PubMed: Jiang 2016 - - ? China - - - - - 1 Stéphanie Cornelis
+?/. 11 c.1531C>T r.(?) p.(Arg511Cys) Parent #1 - likely pathogenic (recessive) g.94543269G>A g.94077713G>A p.R511C;p.P2043S - ABCA4_000307 - PubMed: Jiang 2016 - - Unknown yes - - - - DNA PCR, SEQ - - retinal disease 10181 PubMed: Jiang 2016 - - ? China - - - - - 1 Stéphanie Cornelis
+?/. 11 c.1531C>T r.(?) p.(Arg511Cys) Unknown - likely pathogenic (recessive) g.94543269G>A g.94077713G>A p.[Arg511Cys(;)Ala1739dup(;)Gly1961Glu] - ABCA4_000307 - PubMed: Fujinami 2015 - - Unknown - - - - - DNA ? - - retinal disease 37 PubMed: Fujinami 2015 - - no United Kingdom (Great Britain) - - - - - 1 Stéphanie Cornelis
+?/. 11 c.1531C>T r.(?) p.(Arg511Cys) Both (homozygous) - likely pathogenic (recessive) g.94543269G>A g.94077713G>A p.(R511C) - ABCA4_000307 - PubMed: Lee 2017 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease 76906 PubMed: Lee 2017 - M ? - India - - - - 1 Stéphanie Cornelis
+?/. 11 c.1531C>T r.(?) p.(Arg511Cys) Unknown - likely pathogenic (recessive) g.94543269G>A g.94077713G>A c.1531C>T,p.Arg511Cys - ABCA4_000307 - PubMed: Fujinami 2019 - - Unknown - - - - - DNA SEQ-NG - SEQ-NG (143 cases), APEX (44 cases), SSCP (24 cases), SEQ (134) retinal disease 14037 PubMed: Fujinami 2019 191 F, 154 M in this study - ? United Kingdom (Great Britain) - - - - - 1 Stéphanie Cornelis
+?/. 11 c.1531C>T r.(?) p.(Arg511Cys) Unknown - likely pathogenic (recessive) g.94543269G>A g.94077713G>A c.[1531C>T; 872C>T] - ABCA4_000307 - PubMed: Sharon 2019 - - Unknown - - - - - DNA SEQ-NG - - retinal disease Unknown 774 PubMed: Sharon 2019 - - ? Israel - - - - - 1 Stéphanie Cornelis
+?/. 11 c.1531C>T r.(?) p.(Arg511Cys) Unknown - likely pathogenic (recessive) g.94543269G>A g.94077713G>A c.1531C>T p.(Arg511Cys) - ABCA4_000307 no variant 2nd chromosome PubMed: Koyanagi 2019 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease Unknown 1287 PubMed: Koyanagi 2019 mutations were not reported per patient. - ? - Japan - - - - 1 Stéphanie Cornelis
+?/. 11 c.1531C>T r.(?) p.(Arg511Cys) Unknown - likely pathogenic (recessive) g.94543269G>A g.94077713G>A c.1531C>T - ABCA4_000307 no segregation analysis done PubMed: Sung 2020 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease F17 P19 PubMed: Sung 2020 - - ? - Han - - - - 1 Stéphanie Cornelis
+?/. 11 c.1531C>T r.(?) p.(Arg511Cys) Unknown - likely pathogenic (recessive) g.94543269G>A g.94077713G>A c.1531C>T p.(Arg511Cys) - ABCA4_000307 - PubMed: Sun 2020 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease 7832 PubMed: Sun 2020 - F ? China China - - - - 1 Stéphanie Cornelis
+?/. 11 c.1531C>T r.(?) p.(Arg511Cys) Parent #2 - likely pathogenic (recessive) g.94543269G>A g.94077713G>A p.Arg511Cys - ABCA4_000307 - PubMed: Birtel 2018 - - Unknown - - - - - DNA SEQ - - retinal disease 79 PubMed: Birtel 2018 - F no Germany - - - - - 1 Stéphanie Cornelis
+?/. 11 c.1531C>T r.(?) p.(Arg511Cys) Both (homozygous) - likely pathogenic (recessive) g.94543269G>A g.94077713G>A c.[872C>T;1531C>T] (p.[Pro291Leu;Arg511Cys]) - ABCA4_000307 no segregation analysis done PubMed: Zernant 2017 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease 3080 PubMed: Zernant 2017 - - ? United States - - - - - 1 Stéphanie Cornelis
+?/. 11 c.1531C>T r.(?) p.(Arg511Cys) Both (homozygous) - likely pathogenic (recessive) g.94543269G>A g.94077713G>A c.[872C>T;1531C>T] (p.[Pro291Leu;Arg511Cys]) - ABCA4_000307 no segregation analysis done PubMed: Zernant 2017 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease 3080 PubMed: Zernant 2017 - - ? United States - - - - - 1 Stéphanie Cornelis
+?/. 11 c.1531C>T r.(?) p.(Arg511Cys) Unknown - likely pathogenic (recessive) g.94543269G>A g.94077713G>A c.1531C>T,p.Arg511Cys - ABCA4_000307 - PubMed: Fujinami 2019 - - Unknown - - - - - DNA SEQ-NG - SEQ-NG (143 cases), APEX (44 cases), SSCP (24 cases), SEQ (134) retinal disease 14036 PubMed: Fujinami 2019 191 F, 154 M in this study - ? United Kingdom (Great Britain) - - - - - 1 Stéphanie Cornelis
+?/. 11 c.1531C>T r.(?) p.(Arg511Cys) Parent #2 - likely pathogenic (recessive) g.94543269G>A g.94077713G>A c.1531C>T p.(Arg511Cys) - ABCA4_000307 - PubMed: Nassisi 2018 - - Unknown yes - - - - DNA PE, SEQ - APEX retinal disease CIC09848 PubMed: Nassisi 2018 - - ? France - - - - - 1 Stéphanie Cornelis
+?/. 11 c.1531C>T r.(?) p.(Arg511Cys) Unknown - likely pathogenic (recessive) g.94543269G>A g.94077713G>A c.1531C>T p.Arg511Cys - ABCA4_000307 - PubMed: Georgiou 2019 - - Unknown - - - - - DNA ? - - retinal disease MM_0034 PubMed: Georgiou 2019 sibling of MM_0035 F ? United Kingdom (Great Britain) - - - - - 1 Stéphanie Cornelis
+?/. 11 c.1531C>T r.(?) p.(Arg511Cys) Unknown - likely pathogenic (recessive) g.94543269G>A g.94077713G>A c.1531C>T p.Arg511Cys - ABCA4_000307 - PubMed: Georgiou 2019 - - Unknown - - - - - DNA ? - - retinal disease MM_0035 PubMed: Georgiou 2019 sibling of MM_0034 F ? United Kingdom (Great Britain) - - - - - 1 Stéphanie Cornelis
+?/. 11 c.1531C>T r.(?) p.(Arg511Cys) Unknown - likely pathogenic (recessive) g.94543269G>A g.94077713G>A c.1531C>T p.(Arg511Cys) - ABCA4_000307 - PubMed: Sun 2020 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease S34 PubMed: Sun 2020 - F ? China China - - - - 1 Stéphanie Cornelis
+?/. 11 c.1531C>T r.(?) p.(Arg511Cys) Unknown - likely pathogenic (recessive) g.94543269G>A g.94077713G>A c.1531C>T, p.Arg511Cys Heterozygous - ABCA4_000307 - PubMed: Goetz 2020 - - Unknown - 26, 120500, 0, 0.0002158 - - - DNA SEQ-NG-I - solid state SBS retinal disease 2943-3638 PubMed: Goetz 2020 - - ? - - - - - - 1 Stéphanie Cornelis
+?/. 11 c.1531C>T r.(?) p.(Arg511Cys) Unknown - likely pathogenic (recessive) g.94543269G>A g.94077713G>A c.1531C>T, p.Arg511Cys Heterozygous - ABCA4_000307 - PubMed: Goetz 2020 - - Unknown - 26, 120500, 0, 0.0002158 - - - DNA SEQ-NG-I - solid state SBS retinal disease 4999-6048 PubMed: Goetz 2020 - - ? - - - - - - 1 Stéphanie Cornelis
+?/. 11 c.1531C>T r.(?) p.(Arg511Cys) Unknown - likely pathogenic (recessive) g.94543269G>A g.94077713G>A c.1531C>T, p.Arg511Cys Heterozygous - ABCA4_000307 - PubMed: Goetz 2020 - - Unknown - 26, 120500, 0, 0.0002158 - - - DNA SEQ-NG-I - solid state SBS retinal disease 5513-6688 PubMed: Goetz 2020 - - ? - - - - - - 1 Stéphanie Cornelis
+?/. 11 c.1531C>T r.(?) p.(Arg511Cys) Unknown - likely pathogenic (recessive) g.94543269G>A g.94077713G>A c.1531C>T, p.Arg511Cys Heterozygous - ABCA4_000307 - PubMed: Goetz 2020 - - Unknown - 26, 120500, 0, 0.0002158 - - - DNA arraySEQ, SEQ - Gene Chip retinal disease 883-1435 PubMed: Goetz 2020 - - ? - - - - - - 1 Stéphanie Cornelis
+?/. - c.1531C>T r.(?) p.(Arg511Cys) Unknown ACMG likely pathogenic g.94543269G>A g.94077713G>A ABCA4 c.1531C>T(;)6320G>A, V2: c.1531C>T, (p.Arg511Cys) - ABCA4_000307 alleles in cis or trans; heterozygous PubMed: Chen 2021 - - Unknown ? - - - - DNA SEQ-NG blood 212 inherited retinal disease-related genes retinal disease F183 PubMed: Chen 2021 - ? - Taiwan - - - - - 1 LOVD
+?/. - c.1531C>T r.(?) p.(Arg511Cys) Unknown - likely pathogenic g.94543269G>A g.94077713G>A ABCA4 c.1531C>T(;)6320G>A; p.(Arg511Cys) - ABCA4_000307 heterozygous PubMed: Chen 2021 - - Germline/De novo (untested) ? Taiwan Biobank: 0.000989; GnomAD_exome_East: 0.0019; GnomAD_All: 0.000171 - - - DNA SEQ-NG - targeted 212 IRD-related genes retinal disease F183 PubMed: Chen 2021 - - - Taiwan - - - - - 1 LOVD
+/. - c.1531C>T r.(?) p.(Arg511Cys) Parent #1 - pathogenic (recessive) g.94543269G>A g.94077713G>A - - ABCA4_000307 - PubMed: Tian 2024 - - Germline - - - - - DNA SEQ - - retinal disease - PubMed: Tian 2024 - M - China - - - - - 1 Lu Tian
+?/. - c.1531C>T r.(?) p.(Arg511Cys) Parent #1 - likely pathogenic (recessive) g.94543269G>A g.94077713G>A [1531C>T;6127C>T] - ABCA4_000307 - PubMed: Tian 2024 - - Germline yes - - - - DNA SEQ - - retinal disease - PubMed: Tian 2024 - M - China - - - - - 1 Lu Tian
+/. - c.1531C>T r.(?) p.(Arg511Cys) Parent #1 - pathogenic (recessive) g.94543269G>A g.94077713G>A - - ABCA4_000307 - PubMed: Tian 2024 - - Germline - - - - - DNA SEQ - - retinal disease - PubMed: Tian 2024 - F - China - - - - - 1 Lu Tian
+?/. 11 c.1531C>T r.(?) p.(Arg511Cys) Unknown - likely pathogenic (recessive) g.94543269G>A - c.1531C>T - ABCA4_000307 - PubMed: Khan 2020 - - Unknown - - - - - DNA MIPsm - smMIPs-based complete ABCA4 gene retinal disease 70570 PubMed: Khan 2020 - M - South Africa - - - - - 1 LOVD
+?/. 11 c.1531C>T r.(?) p.(Arg511Cys) Unknown - likely pathogenic (recessive) g.94543269G>A - c.1531C>T - ABCA4_000307 unknown variant 2nd chromosome PubMed: Khan 2020 - - Unknown ? - - - - DNA MIPsm - smMIPs-based complete ABCA4 gene retinal disease 70829 PubMed: Khan 2020 - M - New Zealand - - - - - 1 LOVD
+?/. - c.1531C>T r.(?) p.(Arg511Cys) Unknown - likely pathogenic (recessive) g.94543269G>A g.94077713G>A - - ABCA4_000307 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Germline/De novo (untested) - - - - - DNA SEQ - - retinal disease MEH-mild-145 PubMed: Cornelis 2024, Journal: Cornelis 2024 family, 2 affected F - United Kingdom (Great Britain) - - - - - 2 Stéphanie Cornelis
+?/. - c.1531C>T r.(?) p.(Arg511Cys) Unknown - likely pathogenic (recessive) g.94543269G>A g.94077713G>A - - ABCA4_000307 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Germline/De novo (untested) - - - - - DNA SEQ - - retinal disease MEH-other-71 PubMed: Cornelis 2024, Journal: Cornelis 2024 relative of MEH-mild-145 F - United Kingdom (Great Britain) - - - - - 1 Stéphanie Cornelis
+?/. - c.1531C>T r.(?) p.(Arg511Cys) Unknown ACMG likely pathogenic g.94543269G>A g.94077713G>A - - ABCA4_000307 case unsolved PubMed: Hitti-Malin 2024, Journal: Hitti-Malin 2024 - - Germline - - - - - DNA SEQ - smMIP-based 105 iMD/AMD genes macular dystrophy 070829 PubMed: Hitti-Malin 2024, Journal: Hitti-Malin 2024 - - - - - - - - - 1 Johan den Dunnen
+/. - c.1531C>T r.(?) p.(Arg511Cys) Parent #1 - pathogenic g.94543269G>A g.94077713G>A - - ABCA4_000307 - PubMed: Midgley 2024 - rs752786160 Germline - - - - - DNA SEQ-NG - gene panel retinal disease Pat6 PubMed: Midgley 2024 - M - South Africa mixed - - - - 1 Johan den Dunnen
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