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.

39 entries on 1 page. Showing entries 1 - 39.
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DNA change (genomic) (hg19)     

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?/. 21 c.3064G>A r.(?) p.(Glu1022Lys) Unknown - VUS g.94509018C>T g.94043462C>T 3064G>A - ABCA4_000659 - PubMed: Webster 2001 - - Germline - ExAC 1, 121086, 0, 0.000008259 - - - 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. ? ? United States - - - - - 1 Stéphanie Cornelis
?/. 21 c.3064G>A r.(?) p.(Glu1022Lys) Parent #1 - VUS g.94509018C>T g.94043462C>T E1022 K; C230S - ABCA4_000659 - PubMed: Fumagalli 2001 - - Germline - - - - - DNA PCR, DGGE, SEQ - - STGD1 - PubMed: Fumagalli 2001 - - - Italy - - - - - 1 Stéphanie Cornelis
+?/. 21 c.3064G>A r.(?) p.(Glu1022Lys) Unknown - likely pathogenic g.94509018C>T g.94043462C>T 3064G>A - ABCA4_000659 - PubMed: Downes 2012 - - Germline ? 1, 121086, 0, 0.000008259 - - - DNA SEQ, MLPA - - STGD1 - PubMed: Downes 2012 - ? ? - ? - - - - 1 Stéphanie Cornelis
+?/. 21 c.3064G>A r.(?) p.(Glu1022Lys) Unknown - likely pathogenic g.94509018C>T g.94043462C>T 3064G>A - ABCA4_000659 - PubMed: Downes 2012 - - Germline ? 1, 121086, 0, 0.000008259 - - - DNA SEQ, MLPA - - STGD1 - PubMed: Downes 2012 - ? ? - ? - - - - 1 Stéphanie Cornelis
?/. 21 c.3064G>A r.(?) p.(Glu1022Lys) Unknown - VUS g.94509018C>T g.94043462C>T c.3064G>A - ABCA4_000659 - PubMed: Fujinami 2013 - - Germline - 1, 121086, 0, 0.000008259 - - - DNA PE, PCR, SEQ, SEQ-NG-R - APEX ? - PubMed: Fujinami 2013 - ? ? United Kingdom (Great Britain) ? - - - - 1 Stéphanie Cornelis
?/. 21 c.3064G>A r.(?) p.(Glu1022Lys) Unknown - VUS g.94509018C>T g.94043462C>T c.3064G>A - ABCA4_000659 - PubMed: Fujinami 2013 - - Germline - 1, 121086, 0, 0.000008259 - - - DNA PE, PCR, SEQ, SEQ-NG-R - APEX ? - PubMed: Fujinami 2013 - ? ? United Kingdom (Great Britain) ? - - - - 1 Stéphanie Cornelis
+?/. 21 c.3064G>A r.(3064g>a) p.(Glu1022Lys) Parent #1 ACMG likely pathogenic (recessive) g.94509018C>T g.94043462C>T - - ABCA4_000659 - PubMed: Cornelis 2017, Journal: Cornelis 2017, Journal: Cornelis 2023 - - SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.3064G>A r.(?) p.(Glu1022Lys) Unknown - likely pathogenic g.94509018C>T - 1:94509018C>T ENST00000370225.3:c.3064G>A (Glu1022Lys) - ABCA4_000659 - PubMed: Carss 2017 - - Germline - - - - - DNA SEQ-NG - WGS retinal disease G007755 PubMed: Carss 2017 - M - United Kingdom (Great Britain) Asia-South - - - - 1 LOVD
+/. - c.3064G>A r.(?) p.(Glu1022Lys) Parent #1 - pathogenic g.94509018C>T g.94043462C>T - - ABCA4_000659 - PubMed: Zolnikova 2017 - rs61749459 Germline - - - - - DNA SEQ-NG - 325-gene panel retinal disease P025 PubMed: Zolnikova 2017 - - - Russia Russia;Hebrew - - - - 1 LOVD
+?/. 21 c.3064G>A r.(?) p.(Glu1022Lys) Both (homozygous) - likely pathogenic (recessive) g.94509018C>T g.94043462C>T p.[Glu1022Lys];[Glu1022Lys] - ABCA4_000659 - PubMed: Fujinami 2015 - - Unknown yes - - - - DNA ? - - retinal disease 28* PubMed: Fujinami 2015 - - yes United Kingdom (Great Britain) - - - - - 1 Stéphanie Cornelis
+?/. 21 c.3064G>A r.(?) p.(Glu1022Lys) Unknown - likely pathogenic (recessive) g.94509018C>T g.94043462C>T c.3064G>A Glu1022Lys Heterozygous - ABCA4_000659 no variant 2nd chromosome PubMed: Zolnikova 2017 - - Unknown - - - - - DNA SEQ-NG - - retinal disease P025 PubMed: Zolnikova 2017 - F ? Russia Russian;Hebrew - - - - 1 Stéphanie Cornelis
+?/. 21 c.3064G>A r.(?) p.(Glu1022Lys) Unknown - likely pathogenic (recessive) g.94509018C>T g.94043462C>T c.3064G>A p.(E1022K) - ABCA4_000659 no variant 2nd chromosome PubMed: Schulz 2017 - - Unknown - - - - - DNA arraySEQ, SEQ-NG - RetChip retinal disease Unknown 441 PubMed: Schulz 2017 191 F, 144 M in this study - ? Germany - - - - - 1 Stéphanie Cornelis
+?/. 21 c.3064G>A r.(?) p.(Glu1022Lys) Unknown - likely pathogenic (recessive) g.94509018C>T g.94043462C>T c.3064G>A,p.Glu1022Lys - ABCA4_000659 - PubMed: Fujinami 2019 - - Unknown - - - - - DNA SEQ-NG - SEQ-NG (143 cases), APEX (44 cases), SSCP (24 cases), SEQ (134) retinal disease 13069 PubMed: Fujinami 2019 191 F, 154 M in this study - ? France - - - - - 1 Stéphanie Cornelis
+?/. 21 c.3064G>A r.(?) p.(Glu1022Lys) Both (homozygous) - likely pathogenic (recessive) g.94509018C>T g.94043462C>T c.3064G.A p.Glu1022Lys - ABCA4_000659 - PubMed: Tanna 2019 - - Unknown - - - - - DNA ? - - retinal disease P39 PubMed: Tanna 2019 - F ? - - - - - - 1 Stéphanie Cornelis
+?/. 21 c.3064G>A r.(?) p.(Glu1022Lys) Unknown - likely pathogenic (recessive) g.94509018C>T g.94043462C>T ENST00000370225.3:c.3064G>A p.Glu1022Lys 0/1 - ABCA4_000659 - PubMed: Carss 2017 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease G007755 PubMed: Carss 2017 - M ? England Asia-S - - - - 1 Stéphanie Cornelis
+?/. 21 c.3064G>A r.(?) p.(Glu1022Lys) Unknown - likely pathogenic (recessive) g.94509018C>T g.94043462C>T c.3064G>A, p.Glu1022Lys Heterozygous - ABCA4_000659 - PubMed: Goetz 2020 - - Unknown - 1, 121086, 0, 0.000008259 - - - DNA SEQ-NG-I - solid state SBS retinal disease 2149-2769 PubMed: Goetz 2020 - - ? - - - - - - 1 Stéphanie Cornelis
+?/. - c.3064G>A r.(?) p.(Glu1022Lys) Unknown - likely pathogenic g.94509018C>T g.94043462C>T ABCA4 c.3064G>A, p.Glu1022Lys - ABCA4_000659 heterozygous PubMed: Turro 2020 - - Germline/De novo (untested) ? - - - - DNA SEQ-NG-I blood whole genome sequencing retinal disease G007755 PubMed: Turro 2020 only individuals with mutations in retinal disease genes from this publication were inserted into LOVD ? - (United Kingdom (Great Britain)) - - - - - 1 LOVD
+/. 21 c.3064G>A r.(?) p.(Glu1022Lys) Both (homozygous) - pathogenic g.94509018C>T - c.3064G>A - ABCA4_000659 - PubMed: Panneman 2023 - - Unknown - - - - - DNA SEQ - RP-LCA smMIPs sequencing LCA - PubMed: Panneman 2023 - F - - - - - - - 1 Daan Panneman
+?/. - c.3064G>A r.(?) p.(Glu1022Lys) Parent #1 - likely pathogenic (recessive) g.94509018C>T g.94043462C>T - - ABCA4_000659 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Germline yes - - - - DNA SEQ-NG - - retinal disease L-0246 PubMed: Cornelis 2024, Journal: Cornelis 2024 - M - France - - - - - 1 Frans Cremers
+?/. - c.3064G>A r.(?) p.(Glu1022Lys) Parent #1 - likely pathogenic (recessive) g.94509018C>T g.94043462C>T - - ABCA4_000659 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Germline yes - - - - DNA SEQ-NG - - retinal disease L-0258 PubMed: Cornelis 2024, Journal: Cornelis 2024 - M - France - - - - - 1 Frans Cremers
+?/. - c.3064G>A r.(?) p.(Glu1022Lys) Unknown - likely pathogenic (recessive) g.94509018C>T g.94043462C>T - - ABCA4_000659 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease L-0562 PubMed: Cornelis 2024, Journal: Cornelis 2024 - M - France - - - - - 1 Frans Cremers
+?/. - c.3064G>A r.(?) p.(Glu1022Lys) Parent #1 - likely pathogenic (recessive) g.94509018C>T g.94043462C>T - - ABCA4_000659 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Germline yes - - - - DNA MCA, SEQ - - retinal disease L-0884 PubMed: Cornelis 2024, Journal: Cornelis 2024 - F - France - - - - - 1 Frans Cremers
+?/. - c.3064G>A r.(?) p.(Glu1022Lys) Parent #1 - likely pathogenic (recessive) g.94509018C>T g.94043462C>T - - ABCA4_000659 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Germline yes - - - - DNA SEQ-NG - - retinal disease L-0993 PubMed: Cornelis 2024, Journal: Cornelis 2024 - F - France - - - - - 1 Frans Cremers
+?/. - c.3064G>A r.(?) p.(Glu1022Lys) Unknown - likely pathogenic (recessive) g.94509018C>T g.94043462C>T - - ABCA4_000659 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Unknown - - - - - DNA SEQ-NG - - retinal disease L-0210 PubMed: Cornelis 2024, Journal: Cornelis 2024 - F - France - - - - - 1 Frans Cremers
+?/. - c.3064G>A r.(?) p.(Glu1022Lys) Unknown - likely pathogenic (recessive) g.94509018C>T g.94043462C>T - - ABCA4_000659 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Germline/De novo (untested) - - - - - DNA SEQ - - retinal disease MEH-nonmild-147 PubMed: Cornelis 2024, Journal: Cornelis 2024 - M - United Kingdom (Great Britain) - - - - - 1 Stéphanie Cornelis
+?/. - c.3064G>A r.(?) p.(Glu1022Lys) Both (homozygous) - likely pathogenic (recessive) g.94509018C>T g.94043462C>T - - ABCA4_000659 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Germline/De novo (untested) - - - - - DNA SEQ - - retinal disease MEH-nonmild-206 PubMed: Cornelis 2024, Journal: Cornelis 2024 - F - United Kingdom (Great Britain) - - - - - 1 Stéphanie Cornelis
+?/. - c.3064G>A r.(?) p.(Glu1022Lys) Both (homozygous) - likely pathogenic (recessive) g.94509018C>T g.94043462C>T - - ABCA4_000659 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Germline/De novo (untested) - - - - - DNA SEQ - - retinal disease MEH-nonmild-208 PubMed: Cornelis 2024, Journal: Cornelis 2024 - F - United Kingdom (Great Britain) - - - - - 1 Stéphanie Cornelis
+?/. - c.3064G>A r.(?) p.(Glu1022Lys) Unknown - likely pathogenic (recessive) g.94509018C>T g.94043462C>T - - ABCA4_000659 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Germline/De novo (untested) - - - - - DNA SEQ - - retinal disease MEH-mild-179 PubMed: Cornelis 2024, Journal: Cornelis 2024 - F - United Kingdom (Great Britain) - - - - - 1 Stéphanie Cornelis
+?/. - c.3064G>A r.(?) p.(Glu1022Lys) Both (homozygous) - likely pathogenic (recessive) g.94509018C>T g.94043462C>T - - ABCA4_000659 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Germline/De novo (untested) - - - - - DNA SEQ - - retinal disease MEH-nonmild-310 PubMed: Cornelis 2024, Journal: Cornelis 2024 - M - United Kingdom (Great Britain) - - - - - 1 Stéphanie Cornelis
+?/. - c.3064G>A r.(?) p.(Glu1022Lys) Both (homozygous) - likely pathogenic (recessive) g.94509018C>T g.94043462C>T - - ABCA4_000659 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Germline/De novo (untested) - - - - - DNA SEQ - - retinal disease MEH-nonmild-363 PubMed: Cornelis 2024, Journal: Cornelis 2024 family, 2 affected M - United Kingdom (Great Britain) - - - - - 2 Stéphanie Cornelis
+?/. - c.3064G>A r.(?) p.(Glu1022Lys) Both (homozygous) - likely pathogenic (recessive) g.94509018C>T g.94043462C>T - - ABCA4_000659 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Germline/De novo (untested) - - - - - DNA SEQ - - retinal disease MEH-other-99 PubMed: Cornelis 2024, Journal: Cornelis 2024 relative of MEH-nonmild-363 M - United Kingdom (Great Britain) - - - - - 1 Stéphanie Cornelis
+?/. - c.3064G>A r.(?) p.(Glu1022Lys) Unknown - likely pathogenic (recessive) g.94509018C>T g.94043462C>T - - ABCA4_000659 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Germline/De novo (untested) - - - - - DNA SEQ - - retinal disease MEH-mild-255 PubMed: Cornelis 2024, Journal: Cornelis 2024 - F - United Kingdom (Great Britain) - - - - - 1 Stéphanie Cornelis
+?/. - c.3064G>A r.(?) p.(Glu1022Lys) Both (homozygous) - likely pathogenic (recessive) g.94509018C>T g.94043462C>T - - ABCA4_000659 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Germline/De novo (untested) - - - - - DNA SEQ - - retinal disease MEH-nonmild-372 PubMed: Cornelis 2024, Journal: Cornelis 2024 - M - United Kingdom (Great Britain) - - - - - 1 Stéphanie Cornelis
+?/. - c.3064G>A r.(?) p.(Glu1022Lys) Both (homozygous) - likely pathogenic (recessive) g.94509018C>T g.94043462C>T - - ABCA4_000659 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Germline/De novo (untested) - - - - - DNA SEQ - - retinal disease MEH-nonmild-376 PubMed: Cornelis 2024, Journal: Cornelis 2024 - M - United Kingdom (Great Britain) - - - - - 1 Stéphanie Cornelis
+?/. - c.3064G>A r.(?) p.(Glu1022Lys) Both (homozygous) - likely pathogenic (recessive) g.94509018C>T g.94043462C>T - - ABCA4_000659 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Germline/De novo (untested) - - - - - DNA SEQ - - retinal disease MEH-nonmild-402 PubMed: Cornelis 2024, Journal: Cornelis 2024 - F - United Kingdom (Great Britain) - - - - - 1 Stéphanie Cornelis
+?/. - c.3064G>A r.(?) p.(Glu1022Lys) Unknown - likely pathogenic (recessive) g.94509018C>T g.94043462C>T - - ABCA4_000659 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Germline/De novo (untested) - - - - - DNA SEQ - - retinal disease MEH-mild-317 PubMed: Cornelis 2024, Journal: Cornelis 2024 - M - United Kingdom (Great Britain) - - - - - 1 Stéphanie Cornelis
+?/. - c.3064G>A r.(?) p.(Glu1022Lys) Unknown - likely pathogenic (recessive) g.94509018C>T g.94043462C>T - - ABCA4_000659 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Germline/De novo (untested) - - - - - DNA SEQ - - retinal disease MEH-mild-338 PubMed: Cornelis 2024, Journal: Cornelis 2024 - M - United Kingdom (Great Britain) - - - - - 1 Stéphanie Cornelis
+?/. - c.3064G>A r.(?) p.(Glu1022Lys) Unknown - likely pathogenic (recessive) g.94509018C>T g.94043462C>T - - ABCA4_000659 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Germline/De novo (untested) - - - - - DNA SEQ - - retinal disease MEH-mild-340 PubMed: Cornelis 2024, Journal: Cornelis 2024 - F - United Kingdom (Great Britain) - - - - - 1 Stéphanie Cornelis
+?/. - c.3064G>A r.(?) p.(Glu1022Lys) Unknown - likely pathogenic (recessive) g.94509018C>T g.94043462C>T - - ABCA4_000659 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Germline/De novo (untested) - - - - - DNA SEQ - - retinal disease MEH-nonmild-386 PubMed: Cornelis 2024, Journal: Cornelis 2024 - M - United Kingdom (Great Britain) - - - - - 1 Stéphanie Cornelis
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