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.

56 entries on 1 page. Showing entries 1 - 56.
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Effect     

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AscendingDNA change (cDNA)     

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Protein     

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Clinical classification     

DNA change (genomic) (hg19)     

DNA change (hg38)     

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Variant remarks     

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ClinVar ID     

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+?/. 16 c.2564G>A r.(?) p.(Trp855*) Unknown - likely pathogenic g.94520690C>T g.94055134C>T W855X - ABCA4_000149 - PubMed: Rivera 2000, PubMed: Gerth 2002 - - Germline yes ExAC 4, 121342, 0, 0.00003296 - - - DNA DGGE, DHPLC, SSCA, PCR, SEQ - - STGD1 - PubMed: Rivera 2000, PubMed: Gerth 2002 - M ? Germany ? - - - - 1 Stéphanie Cornelis
?/. 16 c.2564G>A r.(?) p.(Trp855*) Unknown - VUS g.94520690C>T g.94055134C>T c.2564G>A - ABCA4_000149 - PubMed: Rosenberg 2007 - - Germline - 4, 121342, 0, 0.00003296 - - - DNA PCR, SSCA, PE, SEQ - APEX ? - PubMed: Rosenberg 2007 Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome. ? no - ? - - - - 1 Stéphanie Cornelis
?/. 16 c.2564G>A r.(?) p.(Trp855*) Unknown - VUS g.94520690C>T g.94055134C>T p.W855* - ABCA4_000149 - PubMed: Sciezynska 2015 - - Germline - 4, 121342, 0, 0.00003296 - - - DNA SEQ-NG-R - - STGD1 - PubMed: Ścieżyńska 2015 ? ? ? - Poland - - - - 1 Stéphanie Cornelis
+?/. 16 c.2564G>A r.(?) p.(Trp855*) Maternal (confirmed) - likely pathogenic g.94520690C>T g.94055134C>T p.W855* - ABCA4_000149 - PubMed: Duncker 2015 - - Germline - 4, 121342, 0, 0.00003296 - - - DNA PE, SEQ-NG-I - APEX ? - PubMed: Duncker 2015 ? M ? - white - - - - 1 Stéphanie Cornelis
+/. 16 c.2564G>A r.(2564g>a) p.(Trp855Ter) Parent #1 ACMG pathogenic (recessive) g.94520690C>T g.94055134C>T - - ABCA4_000149 - PubMed: Cornelis 2017, Journal: Cornelis 2017, Journal: Cornelis 2023 - - SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.2564G>A r.(?) p.(Trp855Ter) Unknown - pathogenic g.94520690C>T g.94055134C>T - - ABCA4_000149 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 16 c.2564G>A r.(?) p.(Trp855*) Parent #1 - pathogenic g.94520690C>T g.94055134C>T - - ABCA4_000149 - PubMed: Khan 2019 - - Germline yes - - - - DNA SEQ, MIPsm - - STGD1 ? PubMed: Khan 2019 - - - France - - - - - 1 Stéphanie Cornelis
+/. 16 c.2564G>A r.(?) p.(Trp855*) Parent #1 - pathogenic (recessive) g.94520690C>T g.94055134C>T - - ABCA4_000149 - PubMed: Green 2020, Journal: Green 2020 - - Germline - - - - - DNA SEQ blood sequencing ABCA4 gene Healthy/Control FamS18PatII-1 PubMed: Green 2020, Journal: Green 2020 - - - Canada - - - - - 1 Terry-Lynn Young
+/. 16 c.2564G>A r.(?) p.(Trp855*) Parent #2 - pathogenic (recessive) g.94520690C>T g.94055134C>T - - ABCA4_000149 - PubMed: Green 2020, Journal: Green 2020 - - Germline - - - - - DNA SEQ blood sequencing ABCA4 gene ? FamS16PatII-4 PubMed: Green 2020, Journal: Green 2020 - - - Canada - - - - - 5 Terry-Lynn Young
+/. 16 c.2564G>A r.(?) p.(Trp855*) Parent #2 - pathogenic (recessive) g.94520690C>T g.94055134C>T - - ABCA4_000149 - PubMed: Green 2020, Journal: Green 2020 - - Germline - - - - - DNA SEQ blood sequencing ABCA4 gene ? FamS22PatII-2 PubMed: Green 2020, Journal: Green 2020 - - - Canada - - - - - 1 Terry-Lynn Young
+/. 16 c.2564G>A r.(?) p.(Trp855*) Parent #2 - pathogenic (recessive) g.94520690C>T g.94055134C>T - - ABCA4_000149 - PubMed: Green 2020, Journal: Green 2020 - - Germline - - - - - DNA SEQ blood sequencing ABCA4 gene Healthy/Control FamS24PatII-1 PubMed: Green 2020, Journal: Green 2020 - - - Canada - - - - - 2 Terry-Lynn Young
+/. 16 c.2564G>A r.(?) p.(Trp855*) Parent #2 - pathogenic (recessive) g.94520690C>T g.94055134C>T - - ABCA4_000149 - PubMed: Green 2020, Journal: Green 2020 - - Germline - - - - - DNA SEQ blood sequencing ABCA4 gene Healthy/Control FamS24PatII-3 PubMed: Green 2020, Journal: Green 2020 - - - Canada - - - - - 1 Terry-Lynn Young
+?/. - c.2564G>A r.(?) p.(Trp855*) Parent #1 - likely pathogenic (recessive) g.94520690C>T g.94055134C>T - - ABCA4_000149 - PubMed: Holtan 2020 - - Germline - 1/899 cases - - - DNA SEQ - - retinal disease - PubMed: Holtan 2020 1 patient with variant in heterozygous or compound heterozygous form - - Norway - - - - - 1 Global Variome, with Curator vacancy
+/. 16 c.2564G>A r.(?) p.(Trp855*) Parent #1 - pathogenic (recessive) g.94520690C>T g.94055134C>T W855X - ABCA4_000149 no variant 2nd chromosome PubMed: Cideciyan 2012 - - Unknown yes - - - - DNA ? - - retinal disease P29 PubMed: Cideciyan 2012 - F ? United States - - - - - 1 Stéphanie Cornelis
+/. 16 c.2564G>A r.(?) p.(Trp855*) Unknown - pathogenic (recessive) g.94520690C>T g.94055134C>T c.2564G>A p.(W855*) - ABCA4_000149 no variant 2nd chromosome PubMed: Schulz 2017 - - Unknown - - - - - DNA arraySEQ, SEQ-NG - RetChip retinal disease Unknown 429 PubMed: Schulz 2017 191 F, 144 M in this study - ? Germany - - - - - 1 Stéphanie Cornelis
+/. 16 c.2564G>A r.(?) p.(Trp855*) Parent #1 - pathogenic (recessive) g.94520690C>T g.94055134C>T c.2564G>A (p.Trp855*) - ABCA4_000149 - PubMed: Zernant 2017 - - Unknown yes - - - - DNA SEQ-NG-I - - retinal disease 3965 PubMed: Zernant 2017 - - ? United States - - - - - 1 Stéphanie Cornelis
+/. 16 c.2564G>A r.(?) p.(Trp855*) Unknown - pathogenic (recessive) g.94520690C>T g.94055134C>T c.2564G>A (p.Trp855*) - ABCA4_000149 no segregation analysis done PubMed: Zernant 2017 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease 3134 PubMed: Zernant 2017 - - ? United States - - - - - 1 Stéphanie Cornelis
+/. 16 c.2564G>A r.(?) p.(Trp855*) Parent #1 - pathogenic (recessive) g.94520690C>T g.94055134C>T c.2564G>A (p.Trp855*) - ABCA4_000149 - PubMed: Zernant 2017 - - Unknown yes - - - - DNA SEQ-NG-I - - retinal disease 3424 PubMed: Zernant 2017 - - ? United States - - - - - 1 Stéphanie Cornelis
+/. 16 c.2564G>A r.(?) p.(Trp855*) Unknown - pathogenic (recessive) g.94520690C>T g.94055134C>T c.2564 G>Ac.3113 C>Tc.4506 C>T - ABCA4_000149 - PubMed: Schroeder 2018 - - Unknown - - - - - DNA PE - APEX retinal disease 2 PubMed: Schroeder 2018 - F ? Sweden - - - - - 1 Stéphanie Cornelis
+/. 16 c.2564G>A r.(?) p.(Trp855*) Unknown - pathogenic (recessive) g.94520690C>T g.94055134C>T c.2564G>A,p.Trp855Ter - ABCA4_000149 - PubMed: Fujinami 2019 - - Unknown - - - - - DNA SEQ-NG - SEQ-NG (143 cases), APEX (44 cases), SSCP (24 cases), SEQ (134) retinal disease 13049 PubMed: Fujinami 2019 191 F, 154 M in this study - ? France - - - - - 1 Stéphanie Cornelis
+/. 16 c.2564G>A r.(?) p.(Trp855*) Unknown - pathogenic (recessive) g.94520690C>T g.94055134C>T c.2564G>A,p.Trp855Ter - ABCA4_000149 - PubMed: Fujinami 2019 - - Unknown - - - - - DNA SEQ-NG - SEQ-NG (143 cases), APEX (44 cases), SSCP (24 cases), SEQ (134) retinal disease 16040 PubMed: Fujinami 2019 191 F, 154 M in this study - ? United States - - - - - 1 Stéphanie Cornelis
+/. 16 c.2564G>A r.(?) p.(Trp855*) Unknown - pathogenic (recessive) g.94520690C>T g.94055134C>T c.2564G>A,p.Trp855Ter - ABCA4_000149 - PubMed: Fujinami 2019 - - Unknown - - - - - DNA SEQ-NG - SEQ-NG (143 cases), APEX (44 cases), SSCP (24 cases), SEQ (134) retinal disease 18028 PubMed: Fujinami 2019 191 F, 154 M in this study - ? United States - - - - - 1 Stéphanie Cornelis
+/. 16 c.2564G>A r.(?) p.(Trp855*) Parent #1 - pathogenic (recessive) g.94520690C>T g.94055134C>T c.2564G>A p.(Trp855*) - ABCA4_000149 - PubMed: Khan 2019 - - Unknown yes - - - - DNA SEQ-NG, MIPsm - smMIPs of exons and few intronic regions retinal disease 67239 PubMed: Khan 2019 - - ? France - - - - - 1 Stéphanie Cornelis
+/. 16 c.2564G>A r.(?) p.(Trp855*) Unknown - pathogenic (recessive) g.94520690C>T g.94055134C>T c.2564G>A - ABCA4_000149 no variant 2nd chromosome PubMed: Holtan 2019 - - Unknown - - - - - DNA PE - APEX retinal disease Unknown 673 PubMed: Holtan 2019 - - ? Norway - - - - - 1 Stéphanie Cornelis
+/. 16 c.2564G>A r.(?) p.(Trp855*) Parent #1 - pathogenic (recessive) g.94520690C>T g.94055134C>T c.[2564G>A];[5461-10T>C;5603A>T] - ABCA4_000149 - PubMed: Green 2020 - - Germline yes - - - - DNA SEQ - exons and flanking intronic regions retinal disease S16:II-4 PubMed: Green 2020 Consanguinous family member of S16:IV-2, S16:IV-3, S16:IV-4 and S16:V-1 - yes Canada - - - - - 1 Stéphanie Cornelis
+/. 16 c.2564G>A r.(?) p.(Trp855*) Unknown - pathogenic (recessive) g.94520690C>T g.94055134C>T c.2564G>A(;)4139C>T - ABCA4_000149 - PubMed: Green 2020 - - Germline - - - - - DNA SEQ - exons and flanking intronic regions retinal disease S18:II-1 PubMed: Green 2020 - - ? Canada - - - - - 1 Stéphanie Cornelis
+/. 16 c.2564G>A r.(?) p.(Trp855*) Parent #1 - pathogenic (recessive) g.94520690C>T g.94055134C>T c.[2564G>A;5603A>T] - ABCA4_000149 - PubMed: Green 2020 - - Germline - - - - - DNA SEQ - exons and flanking intronic regions retinal disease S24:II-1 PubMed: Green 2020 Sibling of S24:II-3 - ? Canada - - - - - 1 Stéphanie Cornelis
+/. 16 c.2564G>A r.(?) p.(Trp855*) Parent #1 - pathogenic (recessive) g.94520690C>T g.94055134C>T c.[2564G>A;5603A>T] - ABCA4_000149 - PubMed: Green 2020 - - Germline - - - - - DNA SEQ - exons and flanking intronic regions retinal disease S24:II-3 PubMed: Green 2020 Sibling of S24:II-1 - ? Canada - - - - - 1 Stéphanie Cornelis
+/. 16 c.2564G>A r.(?) p.(Trp855*) Unknown - pathogenic (recessive) g.94520690C>T g.94055134C>T p.W855* - ABCA4_000149 - PubMed: Chen 2019 - - Unknown - - - - - DNA SEQ - - retinal disease 26 PubMed: Chen 2019 - M ? - white - - - - 1 Stéphanie Cornelis
+/. 16 c.2564G>A r.(?) p.(Trp855*) Unknown - pathogenic (recessive) g.94520690C>T g.94055134C>T c.2564G>A p.Trp855* het - ABCA4_000149 - Prevention Genetics - - Unknown - - - - - DNA SEQ-NG - STGDMD panel retinal disease 2017-177-002 Prevention Genetics - - ? - white - - - - 1 Stéphanie Cornelis
+/. 16 c.2564G>A r.(?) p.(Trp855*) Unknown - pathogenic (recessive) g.94520690C>T g.94055134C>T c.2564G>A, p.Trp855* Heterozygous - ABCA4_000149 no variant 2nd chromosome PubMed: Goetz 2020 - - Unknown - 4, 121342, 0, 0.00003296 - - - DNA SEQ - - retinal disease 2127-2745 PubMed: Goetz 2020 - - ? - - - - - - 1 Stéphanie Cornelis
+/. 16 c.2564G>A r.(?) p.(Trp855*) Unknown - pathogenic (recessive) g.94520690C>T g.94055134C>T c.2564G>A, p.Trp855* Heterozygous - ABCA4_000149 - PubMed: Goetz 2020 - - Unknown - 4, 121342, 0, 0.00003296 - - - DNA SEQ-NG-I - solid state SBS retinal disease 2350-2986 PubMed: Goetz 2020 - - ? - - - - - - 1 Stéphanie Cornelis
+/. 16 c.2564G>A r.(?) p.(Trp855*) Unknown - pathogenic (recessive) g.94520690C>T g.94055134C>T c.2564G>A, p.Trp855stop Heterozygous - ABCA4_000149 - PubMed: Goetz 2020 - - Unknown - 4, 121342, 0, 0.00003296 - - - DNA SEQ - - retinal disease 4459-6277 PubMed: Goetz 2020 - - ? - - - - - - 1 Stéphanie Cornelis
+/. 16 c.2564G>A r.(?) p.(Trp855*) Unknown - pathogenic (recessive) g.94520690C>T g.94055134C>T c.2564G>A, p.W855X heterozygous - ABCA4_000149 - PubMed: Goetz 2020 - - Unknown - 4, 121342, 0, 0.00003296 - - - DNA arraySEQ, SEQ - Gene Chip retinal disease 487-996 PubMed: Goetz 2020 - - ? - - - - - - 1 Stéphanie Cornelis
+/. 16 c.2564G>A r.(?) p.(Trp855*) Parent #2 - pathogenic (recessive) g.94520690C>T g.94055134C>T p.[Arg587Lys];[Trp855*] - ABCA4_000149 - PubMed: Fujinami 2015 - - Unknown yes - - - - DNA ? - - retinal disease 29 PubMed: Fujinami 2015 - - no United Kingdom (Great Britain) - - - - - 1 Stéphanie Cornelis
+/. 16 c.2564G>A r.(?) p.(Trp855*) Unknown - pathogenic (recessive) g.94520690C>T g.94055134C>T c.2564G>A,p.Trp855Ter - ABCA4_000149 - PubMed: Fujinami 2019 - - Unknown - - - - - DNA SEQ-NG - SEQ-NG (143 cases), APEX (44 cases), SSCP (24 cases), SEQ (134) retinal disease 14051 PubMed: Fujinami 2019 191 F, 154 M in this study - ? United Kingdom (Great Britain) - - - - - 1 Stéphanie Cornelis
+/. 16 c.2564G>A r.(?) p.(Trp855*) Unknown - pathogenic (recessive) g.94520690C>T g.94055134C>T c.2564G>A p.(W855*) - ABCA4_000149 - PubMed: Khan 2020 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease 25804 PubMed: Khan 2020 - M ? United Kingdom (Great Britain) - - - - - 1 Stéphanie Cornelis
+/. 16 c.2564G>A r.(?) p.(Trp855*) Parent #2 - pathogenic (recessive) g.94520690C>T g.94055134C>T c.[5714+5G>A];[2564G>A] - ABCA4_000149 - PubMed: Green 2020 - - Germline yes - - - - DNA SEQ - exons and flanking intronic regions retinal disease S22:II-2 PubMed: Green 2020 - - ? Canada - - - - - 1 Stéphanie Cornelis
+/. 16 c.2564G>A r.(?) p.(Trp855*) Unknown - pathogenic (recessive) g.94520690C>T g.94055134C>T c.2564G>A, p.Trp855Ter heterozygous - ABCA4_000149 - PubMed: Goetz 2020 - - Unknown - 4, 121342, 0, 0.00003296 - - - DNA arraySEQ, SEQ - Gene Chip retinal disease 487-996 PubMed: Goetz 2020 - - ? - - - - - - 1 Stéphanie Cornelis
+/. 16 c.2564G>A r.(?) p.(Trp855*) Unknown - pathogenic (recessive) g.94520690C>T g.94055134C>T c.2564G>A, p.W855X heterozygous - ABCA4_000149 - PubMed: Goetz 2020 - - Unknown - 4, 121342, 0, 0.00003296 - - - DNA arraySEQ, SEQ - Gene Chip retinal disease 6411-545 PubMed: Goetz 2020 - - ? - - - - - - 1 Stéphanie Cornelis
+/. 16 c.2564G>A r.(?) p.(Trp855*) Unknown - pathogenic (recessive) g.94520690C>T - c.2564G>A - ABCA4_000149 - PubMed: Khan 2020 - - Unknown ? - - - - DNA MIPsm - smMIPs-based complete ABCA4 gene retinal disease 70853 PubMed: Khan 2020 - F - Poland - - - - - 1 LOVD
+/. 16 c.2564G>A r.(?) p.(Trp855*) Unknown - pathogenic (recessive) g.94520690C>T - c.2564G>A - ABCA4_000149 - PubMed: Khan 2020 - - Unknown - - - - - DNA MIPsm - smMIPs-based complete ABCA4 gene retinal disease 70868 PubMed: Khan 2020 - M - Poland - - - - - 1 LOVD
+/. 16 c.2564G>A r.(?) p.(Trp855Ter) Parent #1 - pathogenic g.94520690C>T g.94055134C>T - - ABCA4_000149 no variant 2nd chromosome PubMed: Huang 2022 - - Germline - - - - - DNA SEQ - - retinal disease Fam9 PubMed: Huang 2022 2-generation family, 3 affected - - Australia - - - - - 3 Johan den Dunnen
+/. 16 c.2564G>A r.(?) p.(Trp855Ter) Parent #1 - pathogenic g.94520690C>T g.94055134C>T - - ABCA4_000149 - PubMed: Huang 2022 - - Germline - - - - - DNA SEQ - - retinal disease Fam9Pat1 PubMed: Huang 2022 relative - - Australia - - - - - 1 Johan den Dunnen
+/. 16 c.2564G>A r.(?) p.(Trp855Ter) Parent #1 - pathogenic g.94520690C>T g.94055134C>T - - ABCA4_000149 - PubMed: Huang 2022 - - Germline - - - - - DNA SEQ - - retinal disease Fam9Pat2 PubMed: Huang 2022 relative - - Australia - - - - - 1 Johan den Dunnen
?/. 16 c.2564G>A r.(?) p.(Trp855*) Parent #1 ACMG VUS g.94520690C>T g.94055134C>T - - ABCA4_000149 - PubMed: Corradi 2023, Journal: Corradi 2023 - - Germline - - - - - DNA MIPsm, SEQ-NG - - retinal disease Pat32 PubMed: Corradi 2023, Journal: Corradi 2023 - M - - - - - - - 1 Zelia Corradi
?/. 16 c.2564G>A r.(?) p.(Trp855*) Parent #1 ACMG VUS g.94520690C>T g.94055134C>T - - ABCA4_000149 - PubMed: Corradi 2023, Journal: Corradi 2023 - - Germline - - - - - DNA MIPsm, SEQ-NG - - retinal disease Pat45 PubMed: Corradi 2023, Journal: Corradi 2023 - M - - - - - - - 1 Zelia Corradi
+/. - c.2564G>A r.(?) p.(Trp855Ter) Unknown - pathogenic (recessive) g.94520690C>T g.94055134C>T - - ABCA4_000149 no variant 2nd chromosome PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Unknown - - - - - DNA DHPLC, SEQ - - retinal disease L-0681 PubMed: Cornelis 2024, Journal: Cornelis 2024 - M - France - - - - - 1 Frans Cremers
+/. - c.2564G>A r.(?) p.(Trp855Ter) Parent #1 - pathogenic (recessive) g.94520690C>T g.94055134C>T - - ABCA4_000149 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Germline yes - - - - DNA DHPLC, SEQ - - retinal disease L-0843 PubMed: Cornelis 2024, Journal: Cornelis 2024 - F - France - - - - - 1 Frans Cremers
+/. - c.2564G>A r.(?) p.(Trp855Ter) Parent #1 - pathogenic (recessive) g.94520690C>T g.94055134C>T - - ABCA4_000149 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Germline yes - - - - DNA SEQ-NG - - retinal disease L-1058 PubMed: Cornelis 2024, Journal: Cornelis 2024 - M - France - - - - - 1 Frans Cremers
?/. - c.2564G>A r.(?) p.(Trp855Ter) Unknown - VUS g.94520690C>T g.94055134C>T - - ABCA4_000149 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease L-0408 PubMed: Cornelis 2024, Journal: Cornelis 2024 - M - France - - - - - 1 Frans Cremers
+/. - c.2564G>A r.(?) p.(Trp855Ter) Parent #2 - pathogenic (recessive) g.94520690C>T g.94055134C>T - - ABCA4_000149 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Germline yes - - - - DNA SEQ-NG - - retinal disease L-0441 PubMed: Cornelis 2024, Journal: Cornelis 2024 - F - France - - - - - 1 Frans Cremers
+/. - c.2564G>A r.(?) p.(Trp855Ter) Unknown - pathogenic (recessive) g.94520690C>T g.94055134C>T - - ABCA4_000149 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Unknown - - - - - DNA DHPLC, SEQ - - retinal disease L-0708 PubMed: Cornelis 2024, Journal: Cornelis 2024 - M - France - - - - - 1 Frans Cremers
+/. - c.2564G>A r.(?) p.(Trp855Ter) Parent #2 - pathogenic (recessive) g.94520690C>T g.94055134C>T - - ABCA4_000149 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Germline yes - - - - DNA SEQ-NG - - retinal disease L-0975 PubMed: Cornelis 2024, Journal: Cornelis 2024 - F - France - - - - - 1 Frans Cremers
+/. - c.2564G>A r.(?) p.(Trp855Ter) Unknown - pathogenic (recessive) g.94520690C>T g.94055134C>T - - ABCA4_000149 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Germline/De novo (untested) - - - - - DNA SEQ - - retinal disease MEH-nonmild-396 PubMed: Cornelis 2024, Journal: Cornelis 2024 - M - United Kingdom (Great Britain) - - - - - 1 Stéphanie Cornelis
+/. - c.2564G>A r.(?) p.(Trp855Ter) Unknown - pathogenic (recessive) g.94520690C>T g.94055134C>T - - ABCA4_000149 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Germline/De novo (untested) - - - - - DNA SEQ - - retinal disease MEH-nonmild-37 PubMed: Cornelis 2024, Journal: Cornelis 2024 - F - United Kingdom (Great Britain) - - - - - 1 Stéphanie Cornelis
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