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.

23 entries on 1 page. Showing entries 1 - 23.
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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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ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

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Frequency     

Re-site     

VIP     

Methylation     

Template     

Technique     

Tissue     

Remarks     

Disease     

ID_report     

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Age at death     

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Owner     
?/. 36 c.5077G>A r.(?) p.(Val1693Ile) Unknown - VUS g.94485257C>T g.94019701C>T - - ABCA4_000100 - PubMed: Zernant 2014 - - Germline - - - - - DNA SEQ-NG-I - - STGD1 - PubMed: Zernant 2014 - - - United States African American - - - - 1 Jana Zernant
?/. 36 c.5077G>A r.(?) p.(Val1693Ile) Unknown - VUS g.94485257C>T g.94019701C>T 5077G>A - ABCA4_000100 - PubMed: Webster 2001 - - Germline - ExAC 26, 109132, 0, 0.0002382 - - - 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. On its own not significantely found more often in published STGD compared to ExAC (p-value 0.86). However, together with other non-significant variants published related to STGD, they are significantly more often in STGD patients. ? ? United States - - - - - 1 Stéphanie Cornelis
?/. 36 c.5077G>A r.(?) p.(Val1693Ile) Unknown - VUS g.94485257C>T g.94019701C>T V1693I - ABCA4_000100 On its own not significantely found more often in published STGD compared to ExAC (p-value 0.86). However, together with other non-significant variants published related to STGD, they are significantly more often in STGD patients (p-value <0.01). PubMed: September 2004, PubMed: Roberts 2012 - - Germline - ExAC 26, 109132, 0, 0.0002382 - - - DNA PCR, SSCA, HD, PCRdig, SEQ - - STGD1 - PubMed: September 2004 - ? ? South Africa ? - - - - 1 Stéphanie Cornelis
?/. 36 c.5077G>A r.(5077g>a) p.(Val1693Ile) Parent #1 ACMG VUS g.94485257C>T g.94019701C>T - - ABCA4_000100 - PubMed: Cornelis 2017, Journal: Cornelis 2017, Journal: Cornelis 2023 - - SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 36 c.5077G>A r.(?) p.(Val1693Ile) Parent #1 - likely pathogenic g.94485257C>T - G5077A - ABCA4_000100 - PubMed: Mandal 2005 - - Germline - - - - - DNA arraySEQ blood - retinal disease - PubMed: Mandal 2005 - - - - - - - - - 1 Julia Lopez
?/. 36 c.5077G>A r.(?) p.(Val1693Ile) Unknown - VUS g.94485257C>T g.94019701C>T c.5077G>A,p.Val1693Ile - ABCA4_000100 - PubMed: Fujinami 2019 - - Unknown - - - - - DNA SEQ-NG - SEQ-NG (143 cases), APEX (44 cases), SSCP (24 cases), SEQ (134) retinal disease 19001 PubMed: Fujinami 2019 191 F, 154 M in this study - ? United States - - - - - 1 Stéphanie Cornelis
?/. 36 c.5077G>A r.(?) p.(Val1693Ile) Unknown - VUS g.94485257C>T g.94019701C>T c.5077G>A p.Val1693Ile het - ABCA4_000100 - Prevention Genetics - - Unknown - - - - - DNA SEQ-NG - STGDMD panel retinal disease 2019-136-328 Prevention Genetics - - ? - - - - - - 1 Stéphanie Cornelis
?/. 36 c.5077G>A r.(?) p.(Val1693Ile) Unknown - VUS g.94485257C>T g.94019701C>T c.5077G>A, p.Val1693Ile Heterozygous - ABCA4_000100 - PubMed: Goetz 2020 - - Unknown - 26, 109132, 0, 0.0002382 - - - DNA SEQ - - retinal disease 4026-4902 PubMed: Goetz 2020 - - ? - - - - - - 1 Stéphanie Cornelis
?/. 36 c.5077G>A r.(?) p.(Val1693Ile) Unknown - VUS g.94485257C>T g.94019701C>T c.5077G>A, p.Val1693Ile Heterozygous - ABCA4_000100 no variant 2nd chromosome PubMed: Goetz 2020 - - Unknown - 26, 109132, 0, 0.0002382 - - - DNA SEQ - - retinal disease 4960-6001 PubMed: Goetz 2020 - - ? - - - - - - 1 Stéphanie Cornelis
?/. 36 c.5077G>A r.(?) p.(Val1693Ile) Unknown - VUS g.94485257C>T g.94019701C>T c.5077G>A, p.Val1693Ile heterozygous - ABCA4_000100 - PubMed: Goetz 2020 - - Unknown - 26, 109132, 0, 0.0002382 - - - DNA arraySEQ, SEQ - Gene Chip retinal disease 820-1336 PubMed: Goetz 2020 - - ? - - - - - - 1 Stéphanie Cornelis
?/. 36 c.5077G>A r.(?) p.(Val1693Ile) Unknown - VUS g.94485257C>T g.94019701C>T V1693I - ABCA4_000100 - PubMed: Burke 2011 - - Unknown - - - - - DNA PE, SEQ - APEX retinal disease 23 PubMed: Burke 2011 - F ? United States - - - - - 1 Stéphanie Cornelis
?/. 36 c.5077G>A r.(?) p.(Val1693Ile) Unknown - VUS g.94485257C>T g.94019701C>T c.5077G>A (p.V1693I) - ABCA4_000100 - PubMed: Utz 2013 - - Unknown - - - - - DNA PE, SEQ - APEX retinal disease 3 PubMed: Utz 2013 - - ? United States African American - - - - 1 Stéphanie Cornelis
?/. 36 c.5077G>A r.(?) p.(Val1693Ile) Unknown - VUS g.94485257C>T g.94019701C>T c.5077G>A,p.Val1693Ile - ABCA4_000100 - PubMed: Fujinami 2019 - - Unknown - - - - - DNA SEQ-NG - SEQ-NG (143 cases), APEX (44 cases), SSCP (24 cases), SEQ (134) retinal disease 17023 PubMed: Fujinami 2019 191 F, 154 M in this study - ? United States - - - - - 1 Stéphanie Cornelis
?/. 36 c.5077G>A r.(?) p.(Val1693Ile) Unknown - VUS g.94485257C>T g.94019701C>T G5077A Val1693Ile - ABCA4_000100 - PubMed: Mandal 2005 - - Unknown - - - - - DNA arraySEQ - arRP-I chip retinal disease KE1246 PubMed: Mandal 2005 - - ? - - - - - - 1 Stéphanie Cornelis
?/. 36 c.5077G>A r.(?) p.(Val1693Ile) Unknown - VUS g.94485257C>T g.94019701C>T c.5077G>A, p.Val1693Ile Heterozygous - ABCA4_000100 - PubMed: Goetz 2020 - - Unknown - 26, 109132, 0, 0.0002382 - - - DNA SEQ-NG-I - solid state SBS retinal disease 2975-3712 PubMed: Goetz 2020 - - ? - - - - - - 1 Stéphanie Cornelis
?/. 36 c.5077G>A r.(?) p.(Val1693Ile) Unknown - VUS g.94485257C>T g.94019701C>T c.5077G>A, p.Val1693Ile Heterozygous - ABCA4_000100 - PubMed: Goetz 2020 - - Unknown - 26, 109132, 0, 0.0002382 - - - DNA SEQ-NG-I - solid state SBS retinal disease 349-1762 PubMed: Goetz 2020 - - ? - - - - - - 1 Stéphanie Cornelis
?/. 36 c.5077G>A r.(?) p.(Val1693Ile) Unknown - VUS g.94485257C>T g.94019701C>T c.5077G>A, p.Val1693Ile Heterozygous - ABCA4_000100 - PubMed: Goetz 2020 - - Unknown - 26, 109132, 0, 0.0002382 - - - DNA SEQ-NG-I - solid state SBS retinal disease 5471-6611 PubMed: Goetz 2020 - - ? - - - - - - 1 Stéphanie Cornelis
?/. 36 c.5077G>A r.(?) p.(Val1693Ile) Unknown - VUS g.94485257C>T - c.5077G>A - ABCA4_000100 - PubMed: Khan 2020 - - Unknown - - - - - DNA MIPsm - smMIPs-based complete ABCA4 gene retinal disease 70676 PubMed: Khan 2020 - F - South Africa - - - - - 1 LOVD
?/. 36 c.5077G>A r.(?) p.(Val1693Ile) Unknown - VUS g.94485257C>T - c.5077G>A - ABCA4_000100 - PubMed: Khan 2020 - - Unknown ? - - - - DNA MIPsm - smMIPs-based complete ABCA4 gene retinal disease 70619, 070620 PubMed: Khan 2020 - ? - - - - - - - 1 LOVD
?/. - c.5077G>A r.(?) p.(Val1693Ile) Parent #2 - VUS g.94485257C>T g.94019701C>T - - ABCA4_000100 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Germline yes - - - - DNA SEQ-NG - - retinal disease L-1034 PubMed: Cornelis 2024, Journal: Cornelis 2024 - M - France - - - - - 1 Frans Cremers
?/. - c.5077G>A r.(?) p.(Val1693Ile) Unknown - VUS g.94485257C>T g.94019701C>T - - ABCA4_000100 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Germline/De novo (untested) - - - - - DNA SEQ - - retinal disease MEH-nonmild-441 PubMed: Cornelis 2024, Journal: Cornelis 2024 - M - United Kingdom (Great Britain) - - - - - 1 Stéphanie Cornelis
+/. - c.5077G>A r.(?) p.(Val1693Ile) Unknown ACMG pathogenic g.94485257C>T g.94019701C>T - - ABCA4_000100 case unsolved PubMed: Hitti-Malin 2024, Journal: Hitti-Malin 2024 - - Germline - - - - - DNA SEQ - smMIP-based 105 iMD/AMD genes macular dystrophy 070619 PubMed: Hitti-Malin 2024, Journal: Hitti-Malin 2024 - - - - - - - - - 1 Johan den Dunnen
+/. - c.5077G>A r.(?) p.(Val1693Ile) Unknown ACMG pathogenic g.94485257C>T g.94019701C>T - - ABCA4_000100 case unsolved PubMed: Hitti-Malin 2024, Journal: Hitti-Malin 2024 - - Germline - - - - - DNA SEQ - smMIP-based 105 iMD/AMD genes macular dystrophy 072003 PubMed: Hitti-Malin 2024, Journal: Hitti-Malin 2024 - - - - - - - - - 1 Johan den Dunnen
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