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.

20 entries on 1 page. Showing entries 1 - 20.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

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DNA change (genomic) (hg19)     

DNA change (hg38)     

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Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

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Disease     

ID_report     

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Owner     
?/. 42 c.5881G>A r.(?) p.(Gly1961Arg) Unknown - VUS g.94473808C>T g.94008252C>T c.5881G>A - ABCA4_000196 - PubMed: Zernant 2011 - - Germline - - - - - DNA PE, SEQ-NG, SEQ - APEX ? - PubMed: Zernant 2011 - ? ? - ? - - - - 1 Stéphanie Cornelis
+/. 42 c.5881G>A r.(?) p.(Gly1961Arg) Unknown - pathogenic g.94473808C>T g.94008252C>T c.5881G>A - ABCA4_000196 - PubMed: Riveiro-Alvarez 2013 - - Germline ? - - - - DNA PE, DHPLC, MCA, SEQ, MLPA, SEQ-NG - APEX STGD1 - PubMed: Riveiro-Alvarez 2013 - ? ? Spain ? - - - - 1 Stéphanie Cornelis
+/. 42 c.5881G>A r.(?) p.(Gly1961Arg) Unknown - pathogenic g.94473808C>T g.94008252C>T G1961R - ABCA4_000196 - PubMed: Cideciyan 2009 - - Germline - - - - - DNA ? - - STGD1 - PubMed: Cideciyan 2009 ? F ? - ? - - - - 1 Stéphanie Cornelis
+?/. 42 c.5881G>A r.(5881g>a) p.(Gly1961Arg) Parent #1 ACMG likely pathogenic (recessive) g.94473808C>T g.94008252C>T - - ABCA4_000196 - PubMed: Cornelis 2017, Journal: Cornelis 2017, Journal: Cornelis 2023 - - SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.5881G>A r.(?) p.(Gly1961Arg) Paternal (confirmed) ACMG pathogenic g.94473808C>T - - - ABCA4_000196 This variant is in cis with the c.1609C>T variant and no variant on 2nd allele was identified. Zixi Sun 2020, submitted - - Germline - - - - - DNA SEQ-NG - gene panel STGD 7878 Zixi Sun 2020, submitted - F - China - - - - - 1 Zixi Sun
+?/. 42 c.5881G>A r.(?) p.(Gly1961Arg) Unknown - likely pathogenic (recessive) g.94473808C>T g.94008252C>T Codon 1961 cGGA-AGA Gly-Arg - ABCA4_000196 no variant 2nd chromosome PubMed: Riveiro-Alvarez 2006 - - Unknown - - - - - DNA PE, SEQ - APEX retinal disease Unknown 50 PubMed: Riveiro-Alvarez 2006 - - ? Spain - - - - - 1 Stéphanie Cornelis
+?/. 42 c.5881G>A r.(?) p.(Gly1961Arg) Unknown - likely pathogenic (recessive) g.94473808C>T g.94008252C>T Gly1961Arg - ABCA4_000196 no variant 2nd chromosome PubMed: Riveiro-Alvarez 2008 - - Unknown - - - - - DNA PE, SEQ - APEX retinal disease Unknown 142 PubMed: Riveiro-Alvarez 2008 - - ? Spain - - - - - 1 Stéphanie Cornelis
+?/. 42 c.5881G>A r.(?) p.(Gly1961Arg) Unknown - likely pathogenic (recessive) g.94473808C>T g.94008252C>T c.5881G>A p.(G1961R) - ABCA4_000196 no variant 2nd chromosome PubMed: Schulz 2017 - - Unknown - - - - - DNA arraySEQ, SEQ-NG - RetChip retinal disease Unknown 536 PubMed: Schulz 2017 191 F, 144 M in this study - ? Germany - - - - - 1 Stéphanie Cornelis
+?/. 42 c.5881G>A r.(?) p.(Gly1961Arg) Unknown - likely pathogenic (recessive) g.94473808C>T g.94008252C>T c.5881G>A (p.Gly1961Arg) - ABCA4_000196 no variant 2nd chromosome; no segregation analysis done PubMed: Zernant 2017 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease 4120 PubMed: Zernant 2017 - - ? United States - - - - - 1 Stéphanie Cornelis
+?/. 42 c.5881G>A r.(?) p.(Gly1961Arg) Parent #1 - likely pathogenic (recessive) g.94473808C>T g.94008252C>T p.G1961R - ABCA4_000196 no segregation analysis done PubMed: Jiang 2016 - - Unknown - - - - - DNA PCR, SEQ - - retinal disease 10083 PubMed: Jiang 2016 - - ? China - - - - - 1 Stéphanie Cornelis
+?/. 42 c.5881G>A r.(?) p.(Gly1961Arg) Unknown - likely pathogenic (recessive) g.94473808C>T g.94008252C>T c.5881G>A p.G1961R - ABCA4_000196 - PubMed: Liu 2020 - - Unknown - - - - - DNA SEQ-NG, SEQ - - retinal disease RP02-III:2 PubMed: Liu 2020 Two additional variants were found in CDH23 (c.7145G>A p.R2382Q and c.9617G>A p.R3206H) M ? China China - - - - 1 Stéphanie Cornelis
+?/. 42 c.5881G>A r.(?) p.(Gly1961Arg) Parent #1 - likely pathogenic (recessive) g.94473808C>T g.94008252C>T c.[1609C>T;5881G>A] p.[Arg537Cys;Gly1961Arg] - ABCA4_000196 no variant 2nd chromosome PubMed: Sun 2020 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease 7878 PubMed: Sun 2020 - F ? China China - - - - 1 Stéphanie Cornelis
?/. - c.5881G>A r.(?) p.(Gly1961Arg) Unknown - VUS g.94473808C>T g.94008252C>T m26: c.5881G>A; p.Gly1961Arg - ABCA4_000196 - PubMed: Gonzalez del Pozo 2018 - - Germline/De novo (untested) ? - - - - DNA SEQ-NG blood unsolved: single allele variant in autosomal recessive disease retinal disease T (II:1) PubMed: Gonzalez del Pozo 2018 - ? no Spain - - - - - 1 LOVD
+?/. 42 c.5881G>A r.(?) p.(Gly1961Arg) Maternal (confirmed) - likely pathogenic g.117898G>A g.94008252C>T c.5881G>A, p.G1961R - ABCA4_000196 compound heterozygous PubMed: Liu 2020 - - Germline yes - - - - DNA SEQ-NG, SEQ blood - retinal disease RP02-III:1 PubMed: Liu 2020 older sister of RP02-III:2 F no - - - - - - 1 LOVD
+?/. 42 c.5881G>A r.(?) p.(Gly1961Arg) Unknown - likely pathogenic (recessive) g.94473808C>T - c.5881G>A - ABCA4_000196 - PubMed: Liu-2020 - - Germline - - - - - DNA SEQ-NG - hereditary eye disease enrichment panel (HEDEP) retinal disease - PubMed: Liu-2020 - M - - - - - - - 1 LOVD
+/. - c.5881G>A r.(?) p.(Gly1961Arg) Parent #2 - pathogenic (recessive) g.94473808C>T g.94008252C>T - - ABCA4_000196 - PubMed: Tian 2024 - - Germline - - - - - DNA SEQ - - retinal disease - PubMed: Tian 2024 - F - China - - - - - 1 Lu Tian
+?/. - c.5881G>A r.(?) p.(Gly1961Arg) Parent #2 - likely pathogenic (recessive) g.94473808C>T g.94008252C>T [1609C>T;5881G>A] - ABCA4_000196 - PubMed: Tian 2024 - - Germline yes - - - - DNA SEQ - - retinal disease - PubMed: Tian 2024 - F - China - - - - - 1 Lu Tian
+?/. - c.5881G>A r.(?) p.(Gly1961Arg) Unknown - likely pathogenic (recessive) g.94473808C>T g.94008252C>T - - ABCA4_000196 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Unknown - - - - - DNA SEQ-NG - - retinal disease L-0213 PubMed: Cornelis 2024, Journal: Cornelis 2024 - M - France - - - - - 1 Frans Cremers
+/. - c.5881G>A r.(?) p.(Gly1961Arg) Unknown - pathogenic g.94473808C>T - ABCA4(NM_000350.3):c.5881G>A (p.G1961R) - ABCA4_000196 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.5881G>A r.(?) p.(Gly1961Arg) Unknown - likely pathogenic g.94473808C>T - ABCA4(NM_000350.3):c.5881G>A (p.G1961R) - ABCA4_000196 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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