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     

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     

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Owner     
-?/. 8 c.872C>T r.(?) p.(Pro291Leu) Unknown - likely benign g.94546261G>A g.94080705G>A - - ABCA4_000353 - PubMed: Booij 2011 - - Germline - ExAC 65, 120922, 1, 0.0005375 - - - DNA arraySEQ, PCR, SEQ - - STGD1 - PubMed: Booij 2011 - ? ? - ? - - - - 1 Stéphanie Cornelis
?/. 8 c.872C>T r.(?) p.(Pro291Leu) Unknown - VUS g.94546261G>A g.94080705G>A c.872C>T - ABCA4_000353 - PubMed: Ernest 2009 - - Germline - 65, 120922, 1, 0.0005375 - - - DNA PE, DGGE, SEQ - APEX ? - PubMed: Ernest 2009 Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome. ? ? - ? - - - - 1 Stéphanie Cornelis
?/. 8 c.872C>T r.(?) p.(Pro291Leu) Unknown - VUS g.94546261G>A g.94080705G>A c.872C>T, p.Pro291Leu - ABCA4_000353 - PubMed: Roberts 2012 - - Germline - 65, 120922, 1, 0.0005375 - - - DNA PE - APEX ? - PubMed: Roberts 2012 cohort of 73% Stargardt disease, 16% Retinitis pigmentosa, 11% macular dystrophy; variants described separately, additional variant may be present; 9 homozygote, 90 presumed compound heterozygotes (41 verified biallelic, family studies) ? ? South Africa In this cohort: 84% white, 9% African, 4% Indian, 3% mixed ancestry - - - - 1 Stéphanie Cornelis
?/. 8 c.872C>T r.(?) p.(Pro291Leu) Parent #1 - VUS g.94546261G>A g.94080705G>A c.872C>T;4224G>T - ABCA4_000353 - PubMed: Lambertus 2015 - - Germline - - - - - DNA PE, MLPA, SEQ - APEX STGD1 - PubMed: Lambertus 2015 - ? ? Netherlands ? - - - - 1 Stéphanie Cornelis
+?/. 8 c.872C>T r.(872c>u) p.(Pro291Leu) Parent #1 ACMG likely pathogenic (recessive) g.94546261G>A g.94080705G>A - - ABCA4_000353 - PubMed: Cornelis 2017, Journal: Cornelis 2017, Journal: Cornelis 2023 - - SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.872C>T r.(?) p.(Pro291Leu) Unknown - VUS g.94546261G>A g.94080705G>A - - ABCA4_000353 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.872C>T r.(?) p.(Pro291Leu) Parent #1 ACMG likely pathogenic g.94546261G>A - c.[1531C>T; 872C>T] - ABCA4_000353 - 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
+/. 8 c.872C>T r.(?) p.(Pro291Leu) Parent #1 - pathogenic (recessive) g.94546261G>A g.94080705G>A - - ABCA4_000353 - PubMed: Birtel 2018 - - Germline - - - - - DNA SEQ - - retinal disease Pat79 PubMed: Birtel 2018 patient F - Germany - - - - - 1 LOVD
+/. 8 c.872C>T r.(?) p.(Pro291Leu) Parent #1 - pathogenic (recessive) g.94546261G>A g.94080705G>A - - ABCA4_000353 - PubMed: Birtel 2018 - - Germline - - - - - DNA SEQ - - retinal disease Pat88 PubMed: Birtel 2018 patient M - Germany - - - - - 1 LOVD
+/. 8 c.872C>T r.(?) p.(Pro291Leu) Unknown - pathogenic (recessive) g.94546261G>A g.94080705G>A - - ABCA4_000353 - PubMed: Birtel 2018 - - Germline - - - - - DNA SEQ - - retinal disease Pat61 PubMed: Birtel 2018 patient F - Germany - - - - - 1 LOVD
+?/. - c.872C>T r.(?) p.(Pro291Leu) Unknown - likely pathogenic g.94546261G>A g.94080705G>A - - ABCA4_000353 - PubMed: Stone 2017 - - Germline - - - - - DNA SEQ-NG - - retinal disease 659 PubMed: Stone 2017 1 affected F - (United States) - - - - - 1 LOVD
+?/. - c.872C>T r.(?) p.(Pro291Leu) Parent #2 - likely pathogenic g.94546261G>A g.94080705G>A 872C>T/4222T>C - ABCA4_000353 - PubMed: Stone 2017 - - Germline - - - - - DNA SEQ-NG - - retinal disease 775 PubMed: Stone 2017 1 affected F - (United States) - - - - - 1 LOVD
+?/. 8 c.872C>T r.(?) p.(Pro291Leu) Parent #1 - likely pathogenic (recessive) g.94546261G>A g.94080705G>A p.P291L - ABCA4_000353 - PubMed: Jiang 2016 - - Unknown yes - - - - DNA PCR, SEQ - - retinal disease 10075 PubMed: Jiang 2016 - - ? China - - - - - 1 Stéphanie Cornelis
+?/. 8 c.872C>T r.(?) p.(Pro291Leu) Parent #1 - likely pathogenic (recessive) g.94546261G>A g.94080705G>A p.Pro291Leu - ABCA4_000353 - PubMed: Birtel 2018 - - Unknown - - - - - DNA SEQ - - retinal disease 79 PubMed: Birtel 2018 - F no Germany - - - - - 1 Stéphanie Cornelis
+?/. 8 c.872C>T r.(?) p.(Pro291Leu) Unknown - likely pathogenic (recessive) g.94546261G>A g.94080705G>A p.Pro291Leu - ABCA4_000353 - PubMed: Birtel 2018 - - Unknown - - - - - DNA SEQ - - retinal disease 88 PubMed: Birtel 2018 - M no Germany - - - - - 1 Stéphanie Cornelis
+?/. 8 c.872C>T r.(?) p.(Pro291Leu) Both (homozygous) - likely pathogenic (recessive) g.94546261G>A g.94080705G>A c.[872C>T;1531C>T] (p.[Pro291Leu;Arg511Cys]) - ABCA4_000353 no segregation analysis done PubMed: Zernant 2017 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease 3080 PubMed: Zernant 2017 - - ? United States - - - - - 1 Stéphanie Cornelis
+?/. 8 c.872C>T r.(?) p.(Pro291Leu) Unknown - likely pathogenic (recessive) g.94546261G>A g.94080705G>A c.872C>T, p.Pro291Leu - ABCA4_000353 - PubMed: Fujinami 2019 - - Unknown - - - - - DNA SEQ-NG - SEQ-NG (143 cases), APEX (44 cases), SSCP (24 cases), SEQ (134) retinal disease 13075 PubMed: Fujinami 2019 191 F, 154 M in this study - ? France - - - - - 1 Stéphanie Cornelis
+?/. 8 c.872C>T r.(?) p.(Pro291Leu) Unknown - likely pathogenic (recessive) g.94546261G>A g.94080705G>A c.872C>T, p.Pro291Leu - ABCA4_000353 - 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
+?/. 8 c.872C>T r.(?) p.(Pro291Leu) Unknown - likely pathogenic (recessive) g.94546261G>A g.94080705G>A c.[872C>T;4224G>T] p.[Pro291Leu;Trp1408Cys] - ABCA4_000353 - PubMed: Bax 2019 - - Unknown - - - - - DNA PE, SEQ - APEX retinal disease 26 PubMed: Bax 2019 - M ? Netherlands - - - - - 1 Stéphanie Cornelis
+?/. 8 c.872C>T r.(?) p.(Pro291Leu) Unknown - likely pathogenic (recessive) g.94546261G>A g.94080705G>A het c.872C>T p.Pro291Leu - ABCA4_000353 - PubMed: Gliem 2020 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease 89 PubMed: Gliem 2020 - M ? Germany - - - - - 1 Stéphanie Cornelis
+?/. 8 c.872C>T r.(?) p.(Pro291Leu) Unknown - likely pathogenic (recessive) g.94546261G>A g.94080705G>A c.872C>T, p.Pro291Leu Heterozygous - ABCA4_000353 no variant 2nd chromosome PubMed: Goetz 2020 - - Unknown - 65, 120922, 1, 0.0005375 - - - DNA SEQ - - retinal disease 4728-5738 PubMed: Goetz 2020 - - ? - - - - - - 1 Stéphanie Cornelis
+?/. 8 c.872C>T r.(?) p.(Pro291Leu) Unknown - likely pathogenic (recessive) g.94546261G>A g.94080705G>A c.872C>T, p.Pro291Leu Heterozygous - ABCA4_000353 - PubMed: Goetz 2020 - - Unknown - 65, 120922, 1, 0.0005375 - - - DNA SEQ-NG-I - solid state SBS retinal disease 4999-6048 PubMed: Goetz 2020 - - ? - - - - - - 1 Stéphanie Cornelis
+?/. 8 c.872C>T r.(?) p.(Pro291Leu) Unknown - likely pathogenic (recessive) g.94546261G>A g.94080705G>A c.872C>T, p.Pro291Leu Heterozygous - ABCA4_000353 - PubMed: Goetz 2020 - - Unknown - 65, 120922, 1, 0.0005375 - - - DNA arraySEQ, SEQ - Gene Chip retinal disease 883-1435 PubMed: Goetz 2020 - - ? - - - - - - 1 Stéphanie Cornelis
+?/. 8 c.872C>T r.(?) p.(Pro291Leu) Parent #2 - likely pathogenic (recessive) g.94546261G>A g.94080705G>A p.P291L;c.6006-1G>A - ABCA4_000353 - PubMed: Jiang 2016 - - Unknown yes - - - - DNA PCR, SEQ - - retinal disease 19581 PubMed: Jiang 2016 - - ? China - - - - - 1 Stéphanie Cornelis
+?/. 8 c.872C>T r.(?) p.(Pro291Leu) Unknown - likely pathogenic (recessive) g.94546261G>A g.94080705G>A p.Pro291Leu - ABCA4_000353 - PubMed: Birtel 2018 - - Unknown - - - - - DNA SEQ - - retinal disease 61 PubMed: Birtel 2018 - F no Germany - - - - - 1 Stéphanie Cornelis
+?/. 8 c.872C>T r.(?) p.(Pro291Leu) Unknown - likely pathogenic (recessive) g.94546261G>A g.94080705G>A c.872C>T - ABCA4_000353 - PubMed: Teussink 2015 - - Unknown - - - - - DNA PE, SEQ - APEX retinal disease 1 PubMed: Teussink 2015 - F ? Netherlands white - - - - 1 Stéphanie Cornelis
+?/. 8 c.872C>T r.(?) p.(Pro291Leu) Parent #2 - likely pathogenic (recessive) g.94546261G>A g.94080705G>A c.872C>T† p.(Pro291Leu) - ABCA4_000353 - PubMed: Lambertus 2016 - - Unknown - - - - - DNA ? - - retinal disease 28 PubMed: Lambertus 2016 - - ? Netherlands - - - - - 1 Stéphanie Cornelis
+?/. 8 c.872C>T r.(?) p.(Pro291Leu) Both (homozygous) - likely pathogenic (recessive) g.94546261G>A g.94080705G>A c.[872C>T;1531C>T] (p.[Pro291Leu;Arg511Cys]) - ABCA4_000353 no segregation analysis done PubMed: Zernant 2017 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease 3080 PubMed: Zernant 2017 - - ? United States - - - - - 1 Stéphanie Cornelis
+?/. 8 c.872C>T r.(?) p.(Pro291Leu) Unknown - likely pathogenic (recessive) g.94546261G>A g.94080705G>A c.872C>T Pro291Leu CCG>CTG - ABCA4_000353 no segregation analysis done PubMed: Stone 2017 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease 659 PubMed: Stone 2017 - F ? - - - - - - 1 Stéphanie Cornelis
+?/. 8 c.872C>T r.(?) p.(Pro291Leu) Parent #2 - likely pathogenic (recessive) g.94546261G>A g.94080705G>A c.872C>T / c.4222T>C Pro291Leu CCG>CTG / Trp1408Arg TGG>CGG - ABCA4_000353 - PubMed: Stone 2017 - - Unknown yes - - - - DNA SEQ-NG-I - - retinal disease 775 PubMed: Stone 2017 - F ? - - - - - - 1 Stéphanie Cornelis
+?/. 8 c.872C>T r.(?) p.(Pro291Leu) Parent #1 - likely pathogenic (recessive) g.94546261G>A g.94080705G>A c.872C>T p.(Pro291Leu) - ABCA4_000353 no segregation analysis done PubMed: Nassisi 2018 - - Unknown - - - - - DNA PE, SEQ - APEX retinal disease CIC07744 PubMed: Nassisi 2018 - - ? France - - - - - 1 Stéphanie Cornelis
+?/. 8 c.872C>T r.(?) p.(Pro291Leu) Parent #2 - likely pathogenic (recessive) g.94546261G>A g.94080705G>A c.872C>T p.(Pro291Leu) - ABCA4_000353 - PubMed: Nassisi 2018 - - Unknown yes - - - - DNA PE, SEQ - APEX retinal disease CIC09848 PubMed: Nassisi 2018 - - ? France - - - - - 1 Stéphanie Cornelis
+?/. 8 c.872C>T r.(?) p.(Pro291Leu) Unknown - likely pathogenic (recessive) g.94546261G>A g.94080705G>A c.872C>T p.(Pro291Leu); - ABCA4_000353 - PubMed: Bax 2019 - - Unknown - - - - - DNA PE, SEQ - APEX retinal disease 29 PubMed: Bax 2019 - F ? Netherlands - - - - - 1 Stéphanie Cornelis
+?/. 8 c.872C>T r.(?) p.(Pro291Leu) Unknown - likely pathogenic (recessive) g.94546261G>A g.94080705G>A c.[1531C>T; 872C>T] - ABCA4_000353 no variant 2nd chromosome PubMed: Sharon 2019 - - Unknown - - - - - DNA SEQ-NG - - retinal disease Unknown 774 PubMed: Sharon 2019 - - ? Israel - - - - - 1 Stéphanie Cornelis
+?/. 8 c.872C>T r.(?) p.(Pro291Leu) Paternal (confirmed) - likely pathogenic (recessive) g.94546261G>A g.94080705G>A c.872C>T p.Pro291leu (paternal) - ABCA4_000353 - PubMed: Hull 2020 - - Unknown yes - - - - DNA PE, SEQ-NG - APEX or SEQ-NG retinal disease Unknown 1115 PubMed: Hull 2020 - - ? New Zealand white - - - - 1 Stéphanie Cornelis
+?/. 8 c.872C>T r.(?) p.(Pro291Leu) Unknown - likely pathogenic (recessive) g.94546261G>A g.94080705G>A c.872C>T p.Pro291Leu; c.5218_5219insCTG - ABCA4_000353 - PubMed: Georgiou 2019 - - Unknown - - - - - DNA ? - - retinal disease MM_0034 PubMed: Georgiou 2019 sibling of MM_0035 F ? United Kingdom (Great Britain) - - - - - 1 Stéphanie Cornelis
+?/. 8 c.872C>T r.(?) p.(Pro291Leu) Unknown - likely pathogenic (recessive) g.94546261G>A g.94080705G>A c.872C>T p.Pro291Leu; c.5218_5219insCTG - ABCA4_000353 - PubMed: Georgiou 2019 - - Unknown - - - - - DNA ? - - retinal disease MM_0035 PubMed: Georgiou 2019 sibling of MM_0034 F ? United Kingdom (Great Britain) - - - - - 1 Stéphanie Cornelis
+?/. 8 c.872C>T r.(?) p.(Pro291Leu) Unknown - likely pathogenic (recessive) g.94546261G>A g.94080705G>A c.872C>T, p.Pro291Leu Heterozygous - ABCA4_000353 - PubMed: Goetz 2020 - - Unknown - 65, 120922, 1, 0.0005375 - - - DNA SEQ-NG-I - solid state SBS retinal disease 4071-4952 PubMed: Goetz 2020 - - ? - - - - - - 1 Stéphanie Cornelis
?/. - c.872C>T r.(?) p.(Pro291Leu) Unknown - VUS g.94546261G>A g.94080705G>A - - ABCA4_000353 - PubMed: Wang 2014 - rs190540405 Germline - - - - - DNA SEQ-NG - 66-gene panel retinal disease 59 PubMed: Wang 2014 - M - United States - - - - - 1 LOVD
+/. - c.872C>T r.(?) p.(Pro291Leu) Parent #1 - pathogenic (recessive) g.94546261G>A g.94080705G>A - - ABCA4_000353 - PubMed: Tian 2024 - - Germline yes - - - - DNA SEQ - - retinal disease - PubMed: Tian 2024 - F - China - - - - - 1 Lu Tian
+/. - c.872C>T r.(?) p.(Pro291Leu) Parent #1 - pathogenic (recessive) g.94546261G>A g.94080705G>A - - ABCA4_000353 - PubMed: Tian 2024 - - Germline yes - - - - DNA SEQ - - retinal disease - PubMed: Tian 2024 - F - China - - - - - 1 Lu Tian
+?/. - c.872C>T r.(?) p.(Pro291Leu) Parent #2 - likely pathogenic (recessive) g.94546261G>A g.94080705G>A [872C>T;6006-1G>A] - ABCA4_000353 - PubMed: Tian 2024 - - Germline yes - - - - DNA SEQ - - retinal disease - PubMed: Tian 2024 - M - China - - - - - 1 Lu Tian
+?/. 8 c.872C>T r.(?) p.(Pro291Leu) Parent #1 ACMG likely pathogenic (recessive) g.94546261G>A g.94080705G>A - - ABCA4_000353 - PubMed: Corradi 2023, Journal: Corradi 2023 - - Germline - - - - - DNA MIPsm, SEQ-NG - - retinal disease Pat321 PubMed: Corradi 2023, Journal: Corradi 2023 - M - - - - - - - 1 Zelia Corradi
+?/. 8 c.872C>T r.(?) p.(Pro291Leu) Parent #1 ACMG likely pathogenic (recessive) g.94546261G>A g.94080705G>A - - ABCA4_000353 - PubMed: Corradi 2023, Journal: Corradi 2023 - - Germline - - - - - DNA MIPsm, SEQ-NG - - retinal disease Pat326 PubMed: Corradi 2023, Journal: Corradi 2023 - F - - - - - - - 1 Zelia Corradi
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