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.

21 entries on 1 page. Showing entries 1 - 21.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

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Classification method     

Clinical classification     

DNA change (genomic) (hg19)     

DNA change (hg38)     

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DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

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Frequency     

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VIP     

Methylation     

Template     

Technique     

Tissue     

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Disease     

ID_report     

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Gender     

Consanguinity     

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Age at death     

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Owner     
?/. 25 c.3608G>A r.(?) p.(Gly1203Glu) Unknown - VUS g.94502906C>T g.94037350C>T c.3608G>A - ABCA4_000605 on its own not significantely found more often in published STGD compared to ExAC (p-value 0.89; together with other non-significant variants published related to STGD,significantly more often in STGD patients (p-value <0.01); found no variant 2nd chromosome PubMed: Kitiratschky 2008 - - Germline - ExAC 41, 120342, 0, 0.0003407 - - - DNA PCR, PE, SEQ - APEX CORD - PubMed: Kitiratschky 2008 - F ? - (German):(United States) - - - - 1 Stéphanie Cornelis
?/. 25 c.3608G>A r.(?) p.(Gly1203Glu) Unknown - VUS g.94502906C>T g.94037350C>T c.3608G>A - ABCA4_000605 On its own not significantely found more often in published STGD compared to ExAC (p-value 0.89). However, together with other non-significant variants published related to STGD, they are significantly more often in STGD patients (p-value <0.01). PubMed: Bauwens 2014 - - Germline - 41, 120342, 0, 0.0003407 - - - DNA SEQ-NG-I, PCR, SEQ - - CORD - PubMed: Bauwens 2014 - ? ? Germany ? - - - - 1 Stéphanie Cornelis
+/. 25 c.3608G>A r.(?) p.(Gly1203Glu) Unknown - pathogenic g.94502906C>T g.94037350C>T c.3608 G>A - ABCA4_000605 - PubMed: Zaneveld 2015 - - Germline - 41, 120342, 0, 0.0003407 - - - DNA SEQ-NG-I, SEQ, arrayCGH - - STGD1 - PubMed: Zaneveld 2015 c.5882 G>A was also identified in this patient. On its own not significantely found more often in published STGD compared to ExAC (p-value 0.89). However, together with other non-significant variants published related to STGD, they are significantly more often in STGD patients. ? ? Canada Canadian - - - - 1 Stéphanie Cornelis
?/. 25 c.3608G>A r.[3608g>a,3608_3813del] p.(Gly1203Glu) Parent #1 ACMG VUS g.94502906C>T g.94037350C>T - - ABCA4_000605 variant frequency lower in a group of >3000 likely Caucasian STGD1 patients than in the ExAC non-Finnish population PubMed: Cornelis 2017, Journal: Cornelis 2017, Journal: Cornelis 2023 - - SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.3608G>A r.(?) p.(Gly1203Glu) Unknown - VUS g.94502906C>T g.94037350C>T ABCA4(NM_000350.3):c.3608G>A (p.G1203E) - ABCA4_000605 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 25 c.3608G>A r.(?) p.(Gly1203Glu) Both (homozygous) - likely pathogenic g.94502906C>T g.94037350C>T - - ABCA4_000605 - Sharon, submitted - - Germline - - - - - DNA SEQ - - STGD1 - Sharon, submitted - M yes Israel Arab Christian - - - - 2 Dror Sharon
+?/. 25 c.3608G>A r.(?) p.(Gly1203Glu) Parent #1 - likely pathogenic g.94502906C>T g.94037350C>T - - ABCA4_000605 unknown variant 2nd allele PubMed: Khan 2019 - - Unknown no - - - - DNA SEQ, MIPsm - - STGD1 ? PubMed: Khan 2019 - - - France - - - - - 1 Stéphanie Cornelis
+?/. - c.3608G>A r.(?) p.(Gly1203Glu) Unknown ACMG likely pathogenic g.94502906C>T - - - ABCA4_000605 - 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
+?/. 25 c.3608G>A r.(?) p.(Gly1203Glu) Unknown ACMG likely pathogenic g.94502906C>T - - - ABCA4_000605 - Mena et al., 2020 submitted - - Germline ? - - - - DNA SEQ-NG-IT blood gene panel (ABCA4, CNGB3, ELOVL4, PROM1) STGD1 - Mena et al., 2020 submitted. - F no Argentina - - - - - 1 Marcela Mena
+?/. 25 c.3608G>A r.[3608g>a,3608_3813del] p.[Gly1203Glu,Gly1203Aspfs*10] Parent #1 - likely pathogenic (recessive) g.94502906C>T g.94037350C>T c.[3608G>A;4537del] (p.[Gly1203Glu;Gln1513fs]) - ABCA4_000605 - PubMed: Zernant 2017 - - Unknown yes - - - - DNA SEQ-NG-I - - retinal disease 3401 PubMed: Zernant 2017 - - ? United States - - - - - 1 Stéphanie Cornelis
+?/. 25 c.3608G>A r.[3608g>a,3608_3813del] p.[Gly1203Glu,Gly1203Aspfs*10] Unknown - likely pathogenic (recessive) g.94502906C>T g.94037350C>T c.3608G>A - ABCA4_000605 no variant 2nd chromosome PubMed: Sharon 2019 - - Unknown - - - - - DNA SEQ-NG - - retinal disease Unknown 820 PubMed: Sharon 2019 - - ? Israel - - - - - 1 Stéphanie Cornelis
+?/. 25 c.3608G>A r.[3608g>a,3608_3813del] p.[Gly1203Glu,Gly1203Aspfs*10] Unknown - likely pathogenic (recessive) g.94502906C>T g.94037350C>T c.3608G>A p.(Gly1203Glu) - ABCA4_000605 no variant 2nd chromosome PubMed: Hanany 2018 - - Unknown - - - - - DNA SEQ-NG - - retinal disease Unknown 1198 PubMed: Hanany 2018 mutations were not reported per patient, so a second mutation might be present - ? Israel - - - - - 1 Stéphanie Cornelis
+?/. 25 c.3608G>A r.[3608g>a,3608_3813del] p.[Gly1203Glu,Gly1203Aspfs*10] Unknown - likely pathogenic (recessive) g.94502906C>T g.94037350C>T c.3608G>A p.Gly1203Glu Het - ABCA4_000605 no variant 2nd chromosome Prevention Genetics - - Unknown - - - - - DNA SEQ-NG - IRD panel retinal disease 2019-206-520 Prevention Genetics - - ? - - - - - - 1 Stéphanie Cornelis
+?/. 25 c.3608G>A r.[3608g>a,3608_3813del] p.[Gly1203Glu,Gly1203Aspfs*10] Unknown - likely pathogenic (recessive) g.94502906C>T g.94037350C>T c.3608G>A,p.Gly1203Glu - ABCA4_000605 - PubMed: Fujinami 2019 - - Unknown - - - - - DNA SEQ-NG - SEQ-NG (143 cases), APEX (44 cases), SSCP (24 cases), SEQ (134) retinal disease 11002 PubMed: Fujinami 2019 191 F, 154 M in this study - ? United States - - - - - 1 Stéphanie Cornelis
+?/. 25 c.3608G>A r.[3608g>a,3608_3813del] p.[Gly1203Glu,Gly1203Aspfs*10] Unknown - likely pathogenic (recessive) g.94502906C>T g.94037350C>T c.3608G>A p.Gly1203Glu het - ABCA4_000605 - Prevention Genetics - - Unknown - - - - - DNA SEQ - ABCA4 retinal disease 2014-100-042 Prevention Genetics - - ? - Great Britain (United Kingdom) - - - - 1 Stéphanie Cornelis
+?/. 25 c.3608G>A r.[3608g>a,3608_3813del] p.[Gly1203Glu,Gly1203Aspfs*10] Unknown - likely pathogenic (recessive) g.94502906C>T g.94037350C>T c.3608G>A p.Gly1203Glu het - ABCA4_000605 - Prevention Genetics - - Unknown - - - - - DNA SEQ-NG - CRD panel retinal disease 2017-171-034 Prevention Genetics - - ? - white - - - - 1 Stéphanie Cornelis
+?/. 25 c.3608G>A r.[3608g>a,3608_3813del] p.[Gly1203Glu,Gly1203Aspfs*10] Unknown - likely pathogenic (recessive) g.94502906C>T - c.3608G>A - ABCA4_000605 unknown variant 2nd chromosome Khan 2019 - - Unknown ? - - - - DNA MIPsm - smMIPs-based complete ABCA4 gene retinal disease 67303 PubMed: Khan 2019PubMed: Khan 2020 - F - France - - - - - 1 LOVD
-?/. 25 c.3608G>A r.= p.Gly1203Glu Parent #2 - likely benign g.94502906C>T g.94037350C>T c.[3608G>A;4537dup] - ABCA4_000605 - PubMed: Huang 2022 - - Germline - - - - - DNA, RNA RT-PCR, SEQ - - retinal disease Pat46 PubMed: Huang 2022 - - - Australia - - - - - 1 Johan den Dunnen
?/. 25 c.3608G>A r.(?) p.(Gly1203Glu) Parent #1 ACMG VUS g.94502906C>T g.94037350C>T - - ABCA4_000605 - PubMed: Corradi 2023, Journal: Corradi 2023 - - Germline yes - - - - DNA MIPsm, SEQ-NG - - retinal disease Pat8 PubMed: Corradi 2023, Journal: Corradi 2023 - F - - - - - - - 1 Zelia Corradi
?/. 25 c.3608G>A r.(?) p.(Gly1203Glu) Parent #2 ACMG VUS g.94502906C>T g.94037350C>T - - ABCA4_000605 - PubMed: Corradi 2023, Journal: Corradi 2023 - - Germline - - - - - DNA MIPsm, SEQ-NG - - retinal disease Pat174 PubMed: Corradi 2023, Journal: Corradi 2023 - F - - - - - - - 1 Zelia Corradi
?/. - c.3608G>A r.[(3608g>a,3608_3813del)] p.[(Gly1203Glu,Gly1203Aspfs*10)] Unknown - VUS g.94502906C>T g.94037350C>T - - ABCA4_000605 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Germline/De novo (untested) - - - - - DNA SEQ - - retinal disease MEH-nonmild-136 PubMed: Cornelis 2024, Journal: Cornelis 2024 - F - United Kingdom (Great Britain) - - - - - 1 Stéphanie Cornelis
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