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.

44 entries on 1 page. Showing entries 1 - 44.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

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Clinical classification     

DNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

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Methylation     

Template     

Technique     

Tissue     

Remarks     

Disease     

ID_report     

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Gender     

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?/. 16 c.2461T>A r.(?) p.(Trp821Arg) Unknown - VUS g.94520793A>T g.94055237A>T TGG > AGG - ABCA4_000723 - PubMed: Briggs 2001 - - Germline - ExAC 1, 121346, 0, 0.000008241 - - - DNA SSCA, SEQ - - STGD1 - PubMed: Briggs 2001 - ? ? - ? - - - - 1 Stéphanie Cornelis
+?/. 16 c.2461T>A r.(?) p.(Trp821Arg) Unknown - likely pathogenic g.94520793A>T g.94055237A>T W821R - ABCA4_000723 - PubMed: Lewis 1999 - - Germline ? ExAC 1, 121346, 0, 0.000008241 - - - DNA SSCA, HD, SEQ - - STGD1 - PubMed: Lewis 1999 3-generation family, 4 affected M ? United States white - - - - 1 Stéphanie Cornelis
?/. 16 c.2461T>A r.(?) p.(Trp821Arg) Unknown - VUS g.94520793A>T g.94055237A>T 2461T>A - ABCA4_000723 - PubMed: Webster 2001 - - Germline - ExAC 1, 121346, 0, 0.000008241 - - - 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
?/. 16 c.2461T>A r.(?) p.(Trp821Arg) Unknown - VUS g.94520793A>T g.94055237A>T W821R - ABCA4_000723 - PubMed: Fumagalli 2001 - - Germline - ExAC 1, 121346, 0, 0.000008241 - - - DNA PCR, DGGE, SEQ - - STGD1 - PubMed: Fumagalli 2001 - - - Italy - - - - - 1 Stéphanie Cornelis
+/. 16 c.2461T>A r.(?) p.(Trp821Arg) Maternal (confirmed) - pathogenic g.94520793A>T g.94055237A>T W821R - ABCA4_000723 - PubMed: Fumagalli 2001 - - Germline - ExAC 1, 121346, 0, 0.000008241 - - - DNA PCR, DGGE, SEQ - - STGD1 - PubMed: Fumagalli 2001 - - - Italy - - - - - 1 Stéphanie Cornelis
?/. 16 c.2461T>A r.(?) p.(Trp821Arg) Unknown - VUS g.94520793A>T g.94055237A>T 2461T>A - ABCA4_000723 - PubMed: Shroyer 2001 - - Germline - ExAC 1, 121346, 0, 0.000008241 - - - DNA PCR, SEQ - - STGD1 - PubMed: Lewis 1999 4-generation family, 1 affected F ? - ? - - - - 1 Stéphanie Cornelis
+/. 16 c.2461T>A r.(?) p.(Trp821Arg) Unknown - pathogenic g.94520793A>T g.94055237A>T W821R - ABCA4_000723 - PubMed: Passerini 2010, PubMed: Sodi 2010 - - Germline - 1, 121346, 0, 0.000008241 - - - DNA PCR, DHPLC, SEQ - - STGD1 - PubMed: Passerini 2010, PubMed: Sodi 2010 - ? ? Italy ? - - - - 1 Stéphanie Cornelis
?/. 16 c.2461T>A r.(?) p.(Trp821Arg) Unknown - VUS g.94520793A>T g.94055237A>T c.2461T>A - ABCA4_000723 - PubMed: Stenirri 2008 - - Germline - 1, 121346, 0, 0.000008241 - - - DNA PCR, PE, DHPLC, SEQ - APEX STGD1 - PubMed: Stenirri 2008 Mutations were described separately. Therefore, it is possible that additional mutations were found. ? ? Italy ? - - - - 1 Stéphanie Cornelis
+?/. 16 c.2461T>A r.(?) p.(Trp821Arg) Unknown - likely pathogenic g.94520793A>T g.94055237A>T p.W821R - ABCA4_000723 - PubMed: Burke 2014 - - Germline - 1, 121346, 0, 0.000008241 - - - DNA PE, SEQ, SEQ-NG-R - APEX STGD1 - PubMed: Burke 2014 - M ? - Thirty-nine patients were of European ancestry and there was one each of African American, Hispanic, and Indian origin. - - - - 1 Stéphanie Cornelis
+?/. 16 c.2461T>A r.(?) p.(Trp821Arg) Unknown - likely pathogenic g.94520793A>T g.94055237A>T c.[2461T>A] - ABCA4_000723 - PubMed: Nõupuu 2014, PubMed: Duncker 2015 - - Germline - 1, 121346, 0, 0.000008241 - - - DNA SEQ, SEQ-NG-I - - ? - PubMed: Nõupuu 2014, PubMed: Duncker 2015 - M ? - white - - - - 1 Stéphanie Cornelis
+?/. 16 c.2461T>A r.(?) p.(Trp821Arg) Unknown - likely pathogenic g.94520793A>T g.94055237A>T c.2461 T>A - ABCA4_000723 - PubMed: Zaneveld 2015 - - Germline ? 1, 121346, 0, 0.000008241 - - - DNA SEQ-NG-I, SEQ, arrayCGH - - STGD1 - PubMed: Zaneveld 2015 - ? ? Canada French Canadian - - - - 1 Stéphanie Cornelis
+/. 16 c.2461T>A r.(?) p.(Trp821Arg) Unknown - pathogenic g.94520793A>T g.94055237A>T p.W821R - ABCA4_000723 - PubMed: Sciezynska 2015 - - Germline ? 1, 121346, 0, 0.000008241 - - - DNA SEQ-NG-R - - STGD1 - PubMed: Ścieżyńska 2015 ? ? ? - Poland - - - - 1 Stéphanie Cornelis
+/. 16 c.2461T>A r.(2461u>a) p.(Trp821Arg) Parent #1 ACMG pathogenic (recessive) g.94520793A>T g.94055237A>T - - ABCA4_000723 - PubMed: Cornelis 2017, Journal: Cornelis 2017, Journal: Cornelis 2023 - - SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
+/. 16 c.2461T>A r.(?) p.(Trp821Arg) Parent #1 - pathogenic g.94520793A>T g.94055237A>T - - ABCA4_000723 - PubMed: Bernardis 2016 - - Germline - - - - - DNA SEQ-NG - 72-gene panel retinal disease IRD050 PubMed: Bernardis 2016 - - Italy - - - - - 1 LOVD
+?/. 16 c.2461T>A r.(?) p.(Trp821Arg) Unknown - likely pathogenic (recessive) g.94520793A>T g.94055237A>T (p.Trp821Arg) - ABCA4_000723 - PubMed: Sodi 2016 - - Unknown - - - - - DNA ? - - retinal disease 10 PubMed: Sodi 2016 - F ? Italy - - - - - 1 Stéphanie Cornelis
+?/. 16 c.2461T>A r.(?) p.(Trp821Arg) Unknown - likely pathogenic (recessive) g.94520793A>T g.94055237A>T (p.Trp821Arg) - ABCA4_000723 - PubMed: Sodi 2016 - - Unknown - - - - - DNA ? - - retinal disease 17 PubMed: Sodi 2016 - M ? Italy - - - - - 1 Stéphanie Cornelis
+?/. 16 c.2461T>A r.(?) p.(Trp821Arg) Unknown - likely pathogenic (recessive) g.94520793A>T g.94055237A>T (p.Trp821Arg) - ABCA4_000723 - PubMed: Sodi 2016 - - Unknown - - - - - DNA ? - - retinal disease 25 PubMed: Sodi 2016 - M ? Italy - - - - - 1 Stéphanie Cornelis
+?/. 16 c.2461T>A r.(?) p.(Trp821Arg) Both (homozygous) - likely pathogenic (recessive) g.94520793A>T g.94055237A>T c.2461T>A (p.Trp821Arg); - ABCA4_000723 - PubMed: Verdina 2012 - - Unknown - - - - - DNA PE, SEQ - APEX retinal disease TM PubMed: Verdina 2012 - M ? - - - - - - 1 Stéphanie Cornelis
+?/. 16 c.2461T>A r.(?) p.(Trp821Arg) Parent #1 - likely pathogenic (recessive) g.94520793A>T g.94055237A>T p.W821R - ABCA4_000723 - PubMed: Lee 2014 - - Unknown yes - - - - DNA PE, SEQ - APEX retinal disease P21 PubMed: Lee 2014 possibly reported before by Zernant and/or Burke - ? United States white - - - - 1 Stéphanie Cornelis
+?/. 16 c.2461T>A r.(?) p.(Trp821Arg) Unknown - likely pathogenic (recessive) g.94520793A>T g.94055237A>T p.W821R - ABCA4_000723 - PubMed: Duncker 2014 - - Unknown - - - - - DNA PE, SEQ - APEX retinal disease 19 PubMed: Duncker 2014 - M ? - white - - - - 1 Stéphanie Cornelis
+?/. 16 c.2461T>A r.(?) p.(Trp821Arg) Unknown - likely pathogenic (recessive) g.94520793A>T g.94055237A>T c.2461T>A (p.Trp821Arg) - ABCA4_000723 - PubMed: Verdina 2017 - - Unknown - - - - - DNA SEQ - - retinal disease 7 PubMed: Verdina 2017 - - ? - - - - - - 1 Stéphanie Cornelis
+?/. 16 c.2461T>A r.(?) p.(Trp821Arg) Unknown - likely pathogenic (recessive) g.94520793A>T g.94055237A>T c.2461T>A (p.Trp821Arg) - ABCA4_000723 - PubMed: Verdina 2017 - - Unknown - - - - - DNA SEQ - - retinal disease 21 PubMed: Verdina 2017 - - ? - - - - - - 1 Stéphanie Cornelis
+?/. 16 c.2461T>A r.(?) p.(Trp821Arg) Unknown - likely pathogenic (recessive) g.94520793A>T g.94055237A>T c.2461T>A (Trp821Arg) - ABCA4_000723 - PubMed: Verdina 2017 - - Unknown - - - - - DNA SEQ - - retinal disease 27 PubMed: Verdina 2017 - - ? - - - - - - 1 Stéphanie Cornelis
+?/. 16 c.2461T>A r.(?) p.(Trp821Arg) Parent #1 - likely pathogenic (recessive) g.94520793A>T g.94055237A>T c.2461T>A (p.Trp821Arg) - ABCA4_000723 - PubMed: Zernant 2017 - - Unknown yes - - - - DNA SEQ-NG-I - - retinal disease 3498 PubMed: Zernant 2017 - - ? United States - - - - - 1 Stéphanie Cornelis
+?/. 16 c.2461T>A r.(?) p.(Trp821Arg) Unknown - likely pathogenic (recessive) g.94520793A>T g.94055237A>T c.2461T>A (p.Trp821Arg) - ABCA4_000723 no segregation analysis done PubMed: Zernant 2017 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease 3811 PubMed: Zernant 2017 - - ? United States - - - - - 1 Stéphanie Cornelis
+?/. 16 c.2461T>A r.(?) p.(Trp821Arg) Unknown - likely pathogenic (recessive) g.94520793A>T g.94055237A>T c.2461T>A, p.Trp821Arg - ABCA4_000723 - PubMed: Fujinami 2019 - - Unknown - - - - - DNA SEQ-NG - SEQ-NG (143 cases), APEX (44 cases), SSCP (24 cases), SEQ (134) retinal disease 16026 PubMed: Fujinami 2019 191 F, 154 M in this study - ? United States - - - - - 1 Stéphanie Cornelis
+?/. 16 c.2461T>A r.(?) p.(Trp821Arg) Unknown - likely pathogenic (recessive) g.94520793A>T g.94055237A>T c.2461T>A; p.Trp821Arg - ABCA4_000723 - PubMed: Piccardi 2019 - - Unknown - - - - - DNA SSCA, SEQ - SSCP coding region of ABCA4 retinal disease 24. PubMed: Piccardi 2019 - M ? Italy - - - - - 1 Stéphanie Cornelis
+?/. 16 c.2461T>A r.(?) p.(Trp821Arg) Unknown - likely pathogenic (recessive) g.94520793A>T g.94055237A>T c.2461T>A - ABCA4_000723 - PubMed: Bernardis 2016 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease IRD050 PubMed: Bernardis 2016 - - ? Italy - - - - - 1 Stéphanie Cornelis
+?/. 16 c.2461T>A r.(?) p.(Trp821Arg) Both (homozygous) - likely pathogenic (recessive) g.94520793A>T g.94055237A>T c.2461T>A p.(Trp821Arg) - ABCA4_000723 - PubMed: Sodi 2018 - - Unknown - - - - - DNA SEQ - - retinal disease 3 PubMed: Sodi 2018 - - ? Italy - - - - - 1 Stéphanie Cornelis
+?/. 16 c.2461T>A r.(?) p.(Trp821Arg) Unknown - likely pathogenic (recessive) g.94520793A>T g.94055237A>T c.2461T>A p.(Trp821Arg) - ABCA4_000723 - PubMed: Sodi 2018 - - Unknown - - - - - DNA SEQ - - retinal disease 15 PubMed: Sodi 2018 - - ? Italy - - - - - 1 Stéphanie Cornelis
+?/. 16 c.2461T>A r.(?) p.(Trp821Arg) Unknown - likely pathogenic (recessive) g.94520793A>T g.94055237A>T c.2461T>A p.(Trp821Arg) - ABCA4_000723 - PubMed: Sodi 2018 - - Unknown - - - - - DNA SEQ - - retinal disease 28 PubMed: Sodi 2018 - - ? Italy - - - - - 1 Stéphanie Cornelis
+?/. 16 c.2461T>A r.(?) p.(Trp821Arg) Unknown - likely pathogenic (recessive) g.94520793A>T g.94055237A>T c.2461T>A p.Trp821Arg het - ABCA4_000723 - Prevention Genetics - - Unknown - - - - - DNA SEQ-NG - STGDMD panel retinal disease 2018-318-136 Prevention Genetics - - ? - - - - - - 1 Stéphanie Cornelis
+?/. 16 c.2461T>A r.(?) p.(Trp821Arg) Unknown - likely pathogenic (recessive) g.94520793A>T g.94055237A>T c.2461T>A, p.Trp821Arg heterozygous - ABCA4_000723 no variant 2nd chromosome PubMed: Goetz 2020 - - Unknown - 1, 121346, 0, 0.000008241 - - - DNA arraySEQ - Gene Chip retinal disease 601-1114 PubMed: Goetz 2020 601 is a family member of 600 - ? - - - - - - 1 Stéphanie Cornelis
+?/. 16 c.2461T>A r.(?) p.(Trp821Arg) Parent #2 - likely pathogenic (recessive) g.94520793A>T g.94055237A>T W821R - ABCA4_000723 - PubMed: Cideciyan 2012PubMed: Cideciyan 2015 - - Unknown yes - - - - DNA ? - - retinal disease P1‡;71 PubMed: Cideciyan 2012PubMed: Cideciyan 2015 Sibling of P18 M ? United States - - - - - 1 Stéphanie Cornelis
+?/. 16 c.2461T>A r.(?) p.(Trp821Arg) Parent #2 - likely pathogenic (recessive) g.94520793A>T g.94055237A>T W821R - ABCA4_000723 - PubMed: Cideciyan 2012PubMed: Cideciyan 2015 - - Unknown yes - - - - DNA ? - - retinal disease P18‡; 72 PubMed: Cideciyan 2012PubMed: Cideciyan 2015 Sibling of P1 M ? United States - - - - - 1 Stéphanie Cornelis
+?/. 16 c.2461T>A r.(?) p.(Trp821Arg) Unknown - likely pathogenic (recessive) g.94520793A>T g.94055237A>T Het NM_000350.2: c.2461T>A; - ABCA4_000723 - PubMed: Abed 2018 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease 7 PubMed: Abed 2018 - M ? Italy - - - - - 1 Stéphanie Cornelis
+?/. 16 c.2461T>A r.(?) p.(Trp821Arg) Unknown - likely pathogenic (recessive) g.94520793A>T g.94055237A>T c.2461T>A p.Trp821Arg het - ABCA4_000723 - Prevention Genetics - - Unknown - - - - - DNA SEQ - ABCA4 retinal disease 2012-353-017 Prevention Genetics - - ? - white - - - - 1 Stéphanie Cornelis
+?/. 16 c.2461T>A r.(?) p.(Trp821Arg) Unknown - likely pathogenic (recessive) g.94520793A>T g.94055237A>T c.2461T>A p.Trp821Arg het - ABCA4_000723 - Prevention Genetics - - Unknown - - - - - DNA SEQ-NG - STGDMD panel retinal disease 2019-050-038 Prevention Genetics - - ? - - - - - - 1 Stéphanie Cornelis
+?/. 16 c.2461T>A r.(?) p.(Trp821Arg) Unknown - likely pathogenic (recessive) g.94520793A>T g.94055237A>T c.2461T>A, p.Trp821Arg Heterozygous - ABCA4_000723 - PubMed: Goetz 2020 - - Unknown - 1, 121346, 0, 0.000008241 - - - DNA arraySEQ, SEQ - Gene Chip retinal disease 600-1114 PubMed: Goetz 2020 - - ? - - - - - - 1 Stéphanie Cornelis
+?/. 16 c.2461T>A r.(?) p.(Trp821Arg) Paternal (confirmed) ACMG pathogenic (recessive) g.94520793A>T - - - ABCA4_000723 - Bianco 2023, submitted - - Germline yes - - - - DNA SEQ-NG-I Peripheral Blood Sample - STGD1 601691#27 Bianco 2023, submitted - F no Italy - - - - - 2 Lorenzo Bianco
+?/. 16 c.2461T>A r.(?) p.(Trp821Arg) Paternal (confirmed) ACMG pathogenic (recessive) g.94520793A>T - - - ABCA4_000723 - Bianco 2023, submitted - - Germline yes - - - - DNA SEQ-NG-I Peripheral Blood Sample - STGD1 601691#37 Bianco 2023, submitted - F no Italy - - - - - 2 Lorenzo Bianco
+?/. 16 c.2461T>A r.(?) p.(Trp821Arg) Paternal (confirmed) ACMG pathogenic (recessive) g.94520793A>T - - - ABCA4_000723 - Bianco 2023, submitted - - Germline yes - - - - DNA SEQ-NG-I Peripheral Blood Sample - STGD1 601691#38 Bianco 2023, submitted - M no Italy - - - - - 1 Lorenzo Bianco
+?/. 16 c.2461T>A r.(?) p.(Trp821Arg) Paternal (confirmed) ACMG pathogenic (recessive) g.94520793A>T - - - ABCA4_000723 - Bianco 2023, submitted - - Germline yes - - - - DNA SEQ-NG-I Peripheral Blood Sample - STGD1 601691#61 Bianco 2023, submitted - F no Italy - - - - - 1 Lorenzo Bianco
+/. 16 c.2461T>A r.(?) p.(Trp821Arg) Parent #2 ACMG pathogenic (recessive) g.94520793A>T g.94055237A>T - - ABCA4_000723 - PubMed: Corradi 2023, Journal: Corradi 2023 - - Germline - - - - - DNA MIPsm, SEQ-NG - - retinal disease Pat128 PubMed: Corradi 2023, Journal: Corradi 2023 - M - - - - - - - 1 Zelia Corradi
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