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.

28 entries on 1 page. Showing entries 1 - 28.
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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     

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Age at death     

VIP     

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Owner     
+?/. 36 c.5087G>A r.(?) p.(Ser1696Asn) Unknown - likely pathogenic g.94485247C>T g.94019691C>T S1696N - ABCA4_000475 - PubMed: Hwang 2009 - - Germline ? 2, 109176, 0, 0.00001832 - - - DNA PE, SEQ - APEX STGD1 - PubMed: Hwang 2009 - M ? Colombia ? - - - - 1 Stéphanie Cornelis
+/. 36 c.5087G>A r.(?) p.(Ser1696Asn) Unknown - pathogenic g.94485247C>T g.94019691C>T S1696N - ABCA4_000475 - PubMed: Passerini 2010, PubMed: Sodi 2010 - - Germline ? 2, 109176, 0, 0.00001832 - - - DNA PCR, DHPLC, SEQ - - STGD1 - PubMed: Passerini 2010, PubMed: Sodi 2010 - ? ? Italy ? - - - - 1 Stéphanie Cornelis
?/. 36 c.5087G>A r.(?) p.(Ser1696Asn) Unknown - VUS g.94485247C>T g.94019691C>T c.5087G>A - ABCA4_000475 - PubMed: Stenirri 2008 - - Germline - 2, 109176, 0, 0.00001832 - - - 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
+?/. 36 c.5087G>A r.(5087g>a) p.(Ser1696Asn) Parent #1 ACMG likely pathogenic (recessive) g.94485247C>T g.94019691C>T - - ABCA4_000475 - PubMed: Cornelis 2017, Journal: Cornelis 2017, Journal: Cornelis 2023 - - SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 36 c.5087G>A r.(?) p.(Ser1696Asn) Unknown - likely pathogenic (recessive) g.94485247C>T g.94019691C>T c.5087G>A p.(S1696N) - ABCA4_000475 no variant 2nd chromosome PubMed: Schulz 2017 - - Unknown - - - - - DNA arraySEQ, SEQ-NG - RetChip retinal disease Unknown 500 PubMed: Schulz 2017 191 F, 144 M in this study - ? Germany - - - - - 1 Stéphanie Cornelis
+?/. 36 c.5087G>A r.(?) p.(Ser1696Asn) Unknown - likely pathogenic (recessive) g.94485247C>T g.94019691C>T c.5087G>A (p.Ser1696Asn) - ABCA4_000475 no segregation analysis done PubMed: Zernant 2017 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease 3067 PubMed: Zernant 2017 - - ? United States - - - - - 1 Stéphanie Cornelis
+?/. 36 c.5087G>A r.(?) p.(Ser1696Asn) Unknown - likely pathogenic (recessive) g.94485247C>T g.94019691C>T Het NM_000350.2: c.5087G>A; - ABCA4_000475 no variant 2nd chromosome PubMed: Abed 2018 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease 11 PubMed: Abed 2018 - M ? Italy - - - - - 1 Stéphanie Cornelis
+?/. 36 c.5087G>A r.(?) p.(Ser1696Asn) Unknown - likely pathogenic (recessive) g.94485247C>T g.94019691C>T Het NM_000350.2: c.5087G>A; - ABCA4_000475 - PubMed: Abed 2018 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease 16 PubMed: Abed 2018 - M ? Italy - - - - - 1 Stéphanie Cornelis
+?/. 36 c.5087G>A r.(?) p.(Ser1696Asn) Unknown - likely pathogenic (recessive) g.94485247C>T g.94019691C>T S1696N - ABCA4_000475 - PubMed: Hwang 2008 - - Unknown - - - - - DNA PE, SEQ - APEX retinal disease Case 4 PubMed: Hwang 2008 - M ? United States - - - - - 1 Stéphanie Cornelis
+?/. 36 c.5087G>A r.(?) p.(Ser1696Asn) Unknown - likely pathogenic (recessive) g.94485247C>T g.94019691C>T S1696N - ABCA4_000475 - PubMed: Gomes 2009 - - Unknown - - - - - DNA ? - - retinal disease 4 PubMed: Gomes 2009 - M ? United States - - - - - 1 Stéphanie Cornelis
+?/. 36 c.5087G>A r.(?) p.(Ser1696Asn) Unknown - likely pathogenic (recessive) g.94485247C>T g.94019691C>T S1696N - ABCA4_000475 - PubMed: Burke 2011 - - Unknown - - - - - DNA PE, SEQ - APEX retinal disease 11 PubMed: Burke 2011 - M ? United States - - - - - 1 Stéphanie Cornelis
+?/. 36 c.5087G>A r.(?) p.(Ser1696Asn) Unknown - likely pathogenic (recessive) g.94485247C>T g.94019691C>T c.5087G>A (p.Ser1696Asn) - ABCA4_000475 - PubMed: Verdina 2012 - - Unknown - - - - - DNA PE, SEQ - APEX retinal disease NF PubMed: Verdina 2012 - F ? - - - - - - 1 Stéphanie Cornelis
+?/. 36 c.5087G>A r.(?) p.(Ser1696Asn) Unknown - likely pathogenic (recessive) g.94485247C>T g.94019691C>T c.5087G>A (p.Ser1696Asn) - ABCA4_000475 - PubMed: Verdina 2017 - - Unknown - - - - - DNA SEQ - - retinal disease 17 PubMed: Verdina 2017 - - ? - - - - - - 1 Stéphanie Cornelis
+?/. 36 c.5087G>A r.(?) p.(Ser1696Asn) Unknown - likely pathogenic (recessive) g.94485247C>T g.94019691C>T c.5087G>A (p.Ser1696Asn) - ABCA4_000475 - PubMed: Verdina 2017 - - Unknown - - - - - DNA SEQ - - retinal disease 22 PubMed: Verdina 2017 - - ? - - - - - - 1 Stéphanie Cornelis
+?/. 36 c.5087G>A r.(?) p.(Ser1696Asn) Unknown - likely pathogenic (recessive) g.94485247C>T g.94019691C>T c.5087G>A (p.Ser1696Asn) - ABCA4_000475 - PubMed: Verdina 2017 - - Unknown - - - - - DNA SEQ - - retinal disease 41 PubMed: Verdina 2017 - - ? - - - - - - 1 Stéphanie Cornelis
+?/. 36 c.5087G>A r.(?) p.(Ser1696Asn) Unknown - likely pathogenic (recessive) g.94485247C>T g.94019691C>T c.5087G>A (p.Ser1696Asn) - ABCA4_000475 no segregation analysis done PubMed: Zernant 2017 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease 3099 PubMed: Zernant 2017 - - ? United States - - - - - 1 Stéphanie Cornelis
+?/. 36 c.5087G>A r.(?) p.(Ser1696Asn) Unknown - likely pathogenic (recessive) g.94485247C>T g.94019691C>T Het NM_000350.2: c.5087G>A; - ABCA4_000475 - PubMed: Abed 2018 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease 26 PubMed: Abed 2018 - F ? Italy - - - - - 1 Stéphanie Cornelis
+?/. 36 c.5087G>A r.(?) p.(Ser1696Asn) Unknown - likely pathogenic (recessive) g.94485247C>T g.94019691C>T c.5087G>A p.Ser1696Asn - ABCA4_000475 - PubMed: Smaragda 2018 - - Unknown - - - - - DNA MLPA, PE, SEQ - APEX retinal disease C22 PubMed: Smaragda 2018 - M ? Greece - - - - - 1 Stéphanie Cornelis
+?/. 36 c.5087G>A r.(?) p.(Ser1696Asn) Unknown - likely pathogenic (recessive) g.94485247C>T g.94019691C>T c.5087G>A - ABCA4_000475 - PubMed: Fadaie 2019 - - Unknown - - - - - DNA MIPsm, SEQ - - retinal disease F PubMed: Fadaie 2019 - - ? - - - - - - 1 Stéphanie Cornelis
+?/. 36 c.5087G>A r.(?) p.(Ser1696Asn) Unknown - likely pathogenic (recessive) g.94485247C>T g.94019691C>T c.5087G>A p.Ser1696Asn - ABCA4_000475 - PubMed: Georgiou 2019 - - Unknown - - - - - DNA ? - - retinal disease MM_0139 PubMed: Georgiou 2019 - F ? United Kingdom (Great Britain) - - - - - 1 Stéphanie Cornelis
+?/. 36 c.5087G>A r.(?) p.(Ser1696Asn) Unknown - likely pathogenic (recessive) g.94485247C>T g.94019691C>T c.5087G>A p.(Ser1696Asn) - ABCA4_000475 - PubMed: Sodi 2018 - - Unknown - - - - - DNA SEQ - - retinal disease 10 PubMed: Sodi 2018 - - ? Italy - - - - - 1 Stéphanie Cornelis
+?/. 36 c.5087G>A r.(?) p.(Ser1696Asn) Paternal (confirmed) ACMG pathogenic (recessive) g.94485247C>T - - - ABCA4_000475 - Bianco 2023, submitted - - Germline yes - - - - DNA SEQ-NG-I Peripheral Blood Sample - STGD1 601691#26 Bianco 2023, submitted - M no Italy - - - - - 1 Lorenzo Bianco
+?/. 36 c.5087G>A r.(?) p.(Ser1696Asn) Parent #2 ACMG likely pathogenic (recessive) g.94485247C>T g.94019691C>T - - ABCA4_000475 - PubMed: Corradi 2023, Journal: Corradi 2023 - - Germline - - - - - DNA MIPsm, SEQ-NG - - retinal disease Pat96 PubMed: Corradi 2023, Journal: Corradi 2023 - M - - - - - - - 1 Zelia Corradi
+?/. - c.5087G>A r.(?) p.(Ser1696Asn) Unknown - likely pathogenic (recessive) g.94485247C>T g.94019691C>T - - ABCA4_000475 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Unknown - - - - - DNA SEQ-NG - - retinal disease L-0250 PubMed: Cornelis 2024, Journal: Cornelis 2024 - F - France - - - - - 1 Frans Cremers
+?/. - c.5087G>A r.(?) p.(Ser1696Asn) Unknown - likely pathogenic (recessive) g.94485247C>T g.94019691C>T - - ABCA4_000475 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Unknown - - - - - DNA SEQ-NG - - retinal disease L-1093 PubMed: Cornelis 2024, Journal: Cornelis 2024 - M - France - - - - - 1 Frans Cremers
+?/. - c.5087G>A r.(?) p.(Ser1696Asn) Unknown - likely pathogenic (recessive) g.94485247C>T g.94019691C>T - - ABCA4_000475 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Germline/De novo (untested) - - - - - DNA SEQ - - retinal disease MEH-nonmild-200 PubMed: Cornelis 2024, Journal: Cornelis 2024 - F - United Kingdom (Great Britain) - - - - - 1 Stéphanie Cornelis
+/. 36 c.5087G>A r.(?) p.(Ser1696Asn) Parent #2 ACMG pathogenic g.94485247C>T g.94019691C>T c.5087G>A(;)5603A>T - ABCA4_000475 - PubMed: Hitti-Malin 2024, Journal: Hitti-Malin 2024 - - Germline - - - - - DNA SEQ, SEQ-NG - smMIP-based 105 iMD/AMD genes macular dystrophy 074072 PubMed: Hitti-Malin 2024, Journal: Hitti-Malin 2024 - F - - - - - - - 1 Rebekkah Hitti-Malin
+/. 36 c.5087G>A r.(?) p.(Ser1696Asn) Parent #2 ACMG pathogenic g.94485247C>T g.94019691C>T c.5087G>A(;)6089G>A - ABCA4_000475 - PubMed: Hitti-Malin 2024, Journal: Hitti-Malin 2024 - - Germline - - - - - DNA SEQ, SEQ-NG - smMIP-based 105 iMD/AMD genes macular dystrophy 074083 PubMed: Hitti-Malin 2024, Journal: Hitti-Malin 2024 - F - - - - - - - 1 Rebekkah Hitti-Malin
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