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.

39 entries on 1 page. Showing entries 1 - 39.
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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     

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Owner     
?/. 19 c.2915C>A r.(?) p.(Thr972Asn) Unknown - VUS g.94512478G>T g.94046922G>T 2915C>A - ABCA4_000678 - PubMed: Webster 2001 - - Germline - ExAC 7, 121308, 0, 0.0000577 - - - DNA SSCA, SEQ - - STGD1 - PubMed: Webster 2001 Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome. ? ? United States - - - - - 1 Stéphanie Cornelis
?/. 19 c.2915C>A r.(?) p.(Thr972Asn) Unknown - VUS g.94512478G>T g.94046922G>T c.2915C>A - ABCA4_000678 - PubMed: Rosenberg 2007 - - Germline - 7, 121308, 0, 0.0000577 - - - DNA PCR, SSCA, PE, SEQ - APEX ? - PubMed: Rosenberg 2007 Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome. ? no - ? - - - - 1 Stéphanie Cornelis
?/. 19 c.2915C>A r.(?) p.(Thr972Asn) Unknown - VUS g.94512478G>T g.94046922G>T c.2915C>A - ABCA4_000678 - PubMed: Rosenberg 2007 - - Germline - 7, 121308, 0, 0.0000577 - - - DNA PCR, SSCA, PE, SEQ - APEX ? - PubMed: Rosenberg 2007 Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome. ? no - ? - - - - 1 Stéphanie Cornelis
+?/. 19 c.2915C>A r.(?) p.(Thr972Asn) Unknown - likely pathogenic g.94512478G>T g.94046922G>T c.2915C>A - ABCA4_000678 - PubMed: Duno 2012 - - Germline ? 7, 121308, 0, 0.0000577 - - - DNA MLPA, PE, MCA, PCR, SEQ - APEX RD - PubMed: Duno 2012 - ? ? Denmark Scandinavian - - - - 1 Stéphanie Cornelis
+?/. 19 c.2915C>A r.(?) p.(Thr972Asn) Unknown - likely pathogenic g.94512478G>T g.94046922G>T p.T972N - ABCA4_000678 - PubMed: Burke 2014 - - Germline ? 7, 121308, 0, 0.0000577 - - - DNA PE, SEQ, SEQ-NG-R - APEX STGD1 - PubMed: Burke 2014 - F ? - Thirty-nine patients were of European ancestry and there was one each of African American, Hispanic, and Indian origin. - - - - 1 Stéphanie Cornelis
+/. 19 c.2915C>A r.(2915c>a) p.(Thr972Asn) Parent #1 ACMG pathogenic (recessive) g.94512478G>T g.94046922G>T - - ABCA4_000678 - PubMed: Cornelis 2017, Journal: Cornelis 2017, Journal: Cornelis 2023 - - SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.2915C>A r.(?) p.(Thr972Asn) Parent #1 - likely pathogenic (recessive) g.94512478G>T g.94046922G>T - - ABCA4_000678 - PubMed: Holtan 2020 - - Germline - 1/899 cases - - - DNA SEQ - - retinal disease - PubMed: Holtan 2020 1 patient with variant in heterozygous or compound heterozygous form - - Norway - - - - - 1 Global Variome, with Curator vacancy
+/. - c.2915C>A r.(?) p.(Thr972Asn) Unknown - pathogenic (recessive) g.94512478G>T - 1:94512478G>T ENST00000370225.3:c.2915C>A (Thr972Asn) - ABCA4_000678 - PubMed: Carss 2017 - - Germline - - - - - DNA SEQ-NG - WES retinal disease B240250 PubMed: Carss 2017 - M - United Kingdom (Great Britain) - - - - - 1 LOVD
+/. - c.2915C>A r.(?) p.(Thr972Asn) Unknown - pathogenic (recessive) g.94512478G>T - 1:94512478G>T ENST00000370225.3:c.2915C>A (Thr972Asn) - ABCA4_000678 - PubMed: Carss 2017 - - Germline - - - - - DNA SEQ-NG - WGS retinal disease G009845 PubMed: Carss 2017 - M - United Kingdom (Great Britain) Europe - - - - 1 LOVD
+?/. - c.2915C>A r.(?) p.(Thr972Asn) Parent #2 - likely pathogenic g.94512478G>T g.94046922G>T - - ABCA4_000678 - PubMed: Stone 2017 - - Germline - - - - - DNA SEQ-NG - - retinal disease 697 PubMed: Stone 2017 1 affected M - (United States) - - - - - 1 LOVD
+?/. 19 c.2915C>A r.(?) p.(Thr972Asn) Both (homozygous) - likely pathogenic (recessive) g.94512478G>T g.94046922G>T - - ABCA4_000678 - PubMed: Eksandh 2001 - - Unknown - - - - - DNA SEQ - - retinal disease BII:2 PubMed: Eksandh 2001 Sibling of BII:1 F no Sweden - - - - - 1 Stéphanie Cornelis
+?/. 19 c.2915C>A r.(?) p.(Thr972Asn) Unknown - likely pathogenic (recessive) g.94512478G>T g.94046922G>T p.T972N, - ABCA4_000678 - PubMed: Duncker 2013 - - Unknown - - - - - DNA PE, SEQ-NG - APEX retinal disease P7 PubMed: Duncker 2013 - F no United States white - - - - 1 Stéphanie Cornelis
+?/. 19 c.2915C>A r.(?) p.(Thr972Asn) Unknown - likely pathogenic (recessive) g.94512478G>T g.94046922G>T c.2915C>A (p.Thr972Asn) - ABCA4_000678 no segregation analysis done PubMed: Zernant 2017 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease 3725 PubMed: Zernant 2017 - - ? United States - - - - - 1 Stéphanie Cornelis
+?/. 19 c.2915C>A r.(?) p.(Thr972Asn) Parent #1 - likely pathogenic (recessive) g.94512478G>T g.94046922G>T c.2915C>A (p.Thr972Asn) - ABCA4_000678 - PubMed: Zernant 2017 - - Unknown yes - - - - DNA SEQ-NG-I - - retinal disease 3604 PubMed: Zernant 2017 - - ? United States - - - - - 1 Stéphanie Cornelis
+?/. 19 c.2915C>A r.(?) p.(Thr972Asn) Unknown - likely pathogenic (recessive) g.94512478G>T g.94046922G>T p.Thr972Asn - ABCA4_000678 no variant 2nd chromosome PubMed: Zhao 2018 - - Unknown - - - - - DNA SEQ-NG - - retinal disease Unknown 612 PubMed: Zhao 2018 mutations were not reported per patient; these 33 mutations were present in 14 patients - ? United States - - - - - 1 Stéphanie Cornelis
+?/. 19 c.2915C>A r.(?) p.(Thr972Asn) Unknown - likely pathogenic (recessive) g.94512478G>T g.94046922G>T c.2915 C>Ac.5537 T>C - ABCA4_000678 - PubMed: Schroeder 2018 - - Unknown - - - - - DNA PE - APEX retinal disease 7 PubMed: Schroeder 2018 - F ? Sweden - - - - - 1 Stéphanie Cornelis
+?/. 19 c.2915C>A r.(?) p.(Thr972Asn) Unknown - likely pathogenic (recessive) g.94512478G>T g.94046922G>T c.2915C>A,p.Thr972Asm - ABCA4_000678 - PubMed: Fujinami 2019 - - Unknown - - - - - DNA SEQ-NG - SEQ-NG (143 cases), APEX (44 cases), SSCP (24 cases), SEQ (134) retinal disease 11018 PubMed: Fujinami 2019 191 F, 154 M in this study - ? United States - - - - - 1 Stéphanie Cornelis
+?/. 19 c.2915C>A r.(?) p.(Thr972Asn) Unknown - likely pathogenic (recessive) g.94512478G>T g.94046922G>T c.2915C>A,p.Thr972Asm - ABCA4_000678 - PubMed: Fujinami 2019 - - Unknown - - - - - DNA SEQ-NG - SEQ-NG (143 cases), APEX (44 cases), SSCP (24 cases), SEQ (134) retinal disease 18024 PubMed: Fujinami 2019 191 F, 154 M in this study - ? United States - - - - - 1 Stéphanie Cornelis
+?/. 19 c.2915C>A r.(?) p.(Thr972Asn) Unknown - likely pathogenic (recessive) g.94512478G>T g.94046922G>T c.2915C>A - ABCA4_000678 no variant 2nd chromosome PubMed: Holtan 2019 - - Unknown - - - - - DNA PE - APEX retinal disease Unknown 681 PubMed: Holtan 2019 - - ? Norway - - - - - 1 Stéphanie Cornelis
+?/. 19 c.2915C>A r.(?) p.(Thr972Asn) Unknown - likely pathogenic (recessive) g.94512478G>T g.94046922G>T c.2915C>A; - ABCA4_000678 - PubMed: Light 2017PubMed: Cai 2018 - - Unknown - - - - - DNA ? - - retinal disease P7 PubMed: Light 2017PubMed: Cai 2018 - M ? United States white - - - - 1 Stéphanie Cornelis
+?/. 19 c.2915C>A r.(?) p.(Thr972Asn) Unknown - likely pathogenic (recessive) g.94512478G>T g.94046922G>T ENST00000370225.3:c.2915C>A p.Thr972Asn 0/1 - ABCA4_000678 - PubMed: Carss 2017 - - Unknown - - - - - DNA SEQ-NG-I - WES retinal disease B240250 PubMed: Carss 2017 - M ? England - - - - - 1 Stéphanie Cornelis
+?/. 19 c.2915C>A r.(?) p.(Thr972Asn) Unknown - likely pathogenic (recessive) g.94512478G>T g.94046922G>T ENST00000370225.3:c.2915C>A p.Thr972Asn 0/1 - ABCA4_000678 - PubMed: Carss 2017 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease G009845 PubMed: Carss 2017 - M ? England white - - - - 1 Stéphanie Cornelis
+?/. 19 c.2915C>A r.(?) p.(Thr972Asn) Unknown - likely pathogenic (recessive) g.94512478G>T g.94046922G>T p.T972N - ABCA4_000678 - PubMed: Chen 2019 - - Unknown - - - - - DNA SEQ - - retinal disease 20 PubMed: Chen 2019 - F ? - white - - - - 1 Stéphanie Cornelis
+?/. 19 c.2915C>A r.(?) p.(Thr972Asn) Unknown - likely pathogenic (recessive) g.94512478G>T g.94046922G>T c.2915C>A, p.Thr972Asn Heterozygous - ABCA4_000678 - PubMed: Goetz 2020 - - Unknown - 7, 121308, 0, 0.0000577 - - - DNA SEQ-NG-I - solid state SBS retinal disease 1830-2421 PubMed: Goetz 2020 - - ? - - - - - - 1 Stéphanie Cornelis
+?/. 19 c.2915C>A r.(?) p.(Thr972Asn) Unknown - likely pathogenic (recessive) g.94512478G>T g.94046922G>T c.2915C>A, p.Thr972Asn Heterozygous - ABCA4_000678 - PubMed: Goetz 2020 - - Unknown - 7, 121308, 0, 0.0000577 - - - DNA SEQ-NG-I - solid state SBS retinal disease 4152-5048 PubMed: Goetz 2020 - - ? - - - - - - 1 Stéphanie Cornelis
+?/. 19 c.2915C>A r.(?) p.(Thr972Asn) Unknown - likely pathogenic (recessive) g.94512478G>T g.94046922G>T c.2915C>A, p.Thr972Asn Heterozygous - ABCA4_000678 - PubMed: Goetz 2020 - - Unknown - 7, 121308, 0, 0.0000577 - - - DNA SEQ-NG-I - solid state SBS retinal disease 4198-5126 PubMed: Goetz 2020 - - ? - - - - - - 1 Stéphanie Cornelis
+?/. 19 c.2915C>A r.(?) p.(Thr972Asn) Unknown - likely pathogenic (recessive) g.94512478G>T g.94046922G>T c.2915C>A, p.Thr972Asn heterozygous - ABCA4_000678 - PubMed: Goetz 2020 - - Unknown - 7, 121308, 0, 0.0000577 - - - DNA arraySEQ, SEQ - Gene Chip retinal disease 6389-463 PubMed: Goetz 2020 - - ? - - - - - - 1 Stéphanie Cornelis
+?/. 19 c.2915C>A r.(?) p.(Thr972Asn) Parent #1 - likely pathogenic (recessive) g.94512478G>T g.94046922G>T - - ABCA4_000678 - PubMed: Eksandh 2001 - - Unknown - - - - - DNA SEQ - - retinal disease BII:1 PubMed: Eksandh 2001 Sibling of BII:2 F no Sweden - - - - - 1 Stéphanie Cornelis
+?/. 19 c.2915C>A r.(?) p.(Thr972Asn) Parent #2 - likely pathogenic (recessive) g.94512478G>T g.94046922G>T c.2915C>A Thr972Asn ACC>AAC - ABCA4_000678 - PubMed: Stone 2017 - - Unknown yes - - - - DNA SEQ-NG-I - - retinal disease 697 PubMed: Stone 2017 - M ? - - - - - - 1 Stéphanie Cornelis
+?/. 19 c.2915C>A r.(?) p.(Thr972Asn) Unknown - likely pathogenic (recessive) g.94512478G>T g.94046922G>T c.2915C>A p.Thr972Asn het - ABCA4_000678 - Prevention Genetics - - Unknown - - - - - DNA SEQ - ABCA4 retinal disease 2013-316-016 Prevention Genetics - - ? - white;Europe-N - - - - 1 Stéphanie Cornelis
+?/. 19 c.2915C>A r.(?) p.(Thr972Asn) Unknown - likely pathogenic (recessive) g.94512478G>T g.94046922G>T c.2915C>A, p.Thr972Asn Heterozygous - ABCA4_000678 - PubMed: Goetz 2020 - - Unknown - 7, 121308, 0, 0.0000577 - - - DNA SEQ-NG-I - solid state SBS retinal disease 1493-2064 PubMed: Goetz 2020 - - ? - - - - - - 1 Stéphanie Cornelis
+?/. 19 c.2915C>A r.(?) p.(Thr972Asn) Unknown - likely pathogenic (recessive) g.94512478G>T g.94046922G>T c.2915C>A, p.Thr972Asn Heterozygous - ABCA4_000678 - PubMed: Goetz 2020 - - Unknown - 7, 121308, 0, 0.0000577 - - - DNA SEQ - - retinal disease 3476-4234 PubMed: Goetz 2020 - - ? - - - - - - 1 Stéphanie Cornelis
+?/. 19 c.2915C>A r.(?) p.(Thr972Asn) Unknown - likely pathogenic (recessive) g.94512478G>T g.94046922G>T c.2915C>A, p.Thr972Asn Heterozygous - ABCA4_000678 - PubMed: Goetz 2020 - - Unknown - 7, 121308, 0, 0.0000577 - - - DNA SEQ-NG-I - solid state SBS retinal disease 4525-5492 PubMed: Goetz 2020 - - ? - - - - - - 1 Stéphanie Cornelis
+?/. - c.2915C>A r.(?) p.(Thr972Asn) Unknown - likely pathogenic g.94512478G>T g.94046922G>T ABCA4 c.2915C>A, p.Thr972Asn - ABCA4_000678 heterozygous PubMed: Zampaglione 2020 - - Unknown ? - - - - DNA SEQ-NG-I, SEQ blood - retinal disease OGI2871_004456 PubMed: Zampaglione 2020 - ? - - - - - - - 1 LOVD
+?/. - c.2915C>A r.(?) p.(Thr972Asn) Unknown - likely pathogenic g.94512478G>T g.94046922G>T ABCA4 c.2915C>A, p.Thr972Asn - ABCA4_000678 heterozygous PubMed: Turro 2020 - - Germline/De novo (untested) ? - - - - DNA SEQ-NG-I blood whole genome sequencing retinal disease G009845 PubMed: Turro 2020 only individuals with mutations in retinal disease genes from this publication were inserted into LOVD ? - - - - - - - 1 LOVD
+/. 19 c.2915C>A r.(?) p.(Thr972Asn) Parent #1 - pathogenic g.94512478G>T g.94046922G>T - - ABCA4_000678 - PubMed: Huang 2022 - - Germline - - - - - DNA SEQ - - retinal disease Pat31 PubMed: Huang 2022 - - - Australia - - - - - 1 Johan den Dunnen
+?/. - c.2915C>A r.(?) p.(Thr972Asn) Unknown - likely pathogenic g.94512478G>T - - - ABCA4_000678 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.2915C>A r.(?) p.(Thr972Asn) Unknown - pathogenic (recessive) g.94512478G>T g.94046922G>T - - ABCA4_000678 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Germline/De novo (untested) - - - - - DNA SEQ - - retinal disease MEH-nonmild-394 PubMed: Cornelis 2024, Journal: Cornelis 2024 - M - United Kingdom (Great Britain) - - - - - 1 Stéphanie Cornelis
+/. - c.2915C>A r.(?) p.(Thr972Asn) Unknown - pathogenic (recessive) g.94512478G>T g.94046922G>T - - ABCA4_000678 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Germline/De novo (untested) - - - - - DNA SEQ - - retinal disease MEH-nonmild-97 PubMed: Cornelis 2024, Journal: Cornelis 2024 - M - United Kingdom (Great Britain) - - - - - 1 Stéphanie Cornelis
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