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.

30 entries on 1 page. Showing entries 1 - 30.
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AscendingDNA change (cDNA)     

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DNA change (genomic) (hg19)     

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?/. 22 c.3261A>C r.(?) p.(Glu1087Asp) Unknown - VUS g.94508384T>G g.94042828T>G 3261G>A - ABCA4_000641 - PubMed: Webster 2001 - - Germline - - - - - 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
?/. 22 c.3261A>C r.(?) p.(Glu1087Asp) Unknown - VUS g.94508384T>G g.94042828T>G 3261G>A - ABCA4_000641 - PubMed: Webster 2001 - - Germline - - - - - 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
+/. 22 c.3261A>C r.(?) p.(Glu1087Asp) Maternal (confirmed) - pathogenic g.94508384T>G g.94042828T>G c.3261A>C - ABCA4_000641 - PubMed: Müller 2015 - - Germline ? - - - - DNA SEQ - - ? - PubMed: Müller 2015 ? ? ? Germany white - - - - 1 Stéphanie Cornelis
?/. 22 c.3261A>C r.(?) p.(Glu1087Asp) Unknown - VUS g.94508384T>G g.94042828T>G E1087D - ABCA4_000641 - PubMed: Cideciyan 2009 - - Germline yes - - - - DNA ? - - CORD - PubMed: Cideciyan 2009 ? F ? - ? - - - - 1 Stéphanie Cornelis
+/. 22 c.3261A>C r.(3261a>c) p.(Glu1087Asp) Parent #1 ACMG pathogenic (recessive) g.94508384T>G g.94042828T>G - - ABCA4_000641 variant significantly enriched in >3000 likely Caucasian STGD1 patients compared to the non-Finnish ExAC population; located in the ATPase domain, supporting pathogenicity according to ACMG guidelines PubMed: Cornelis 2017, Journal: Cornelis 2017, Journal: Cornelis 2023 - - SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
+/. 22 c.3261A>C r.(?) p.(Glu1087Asp) Parent #2 - pathogenic (recessive) g.94508384T>G g.94042828T>G - - ABCA4_000641 - PubMed: Birtel 2018 - - Germline - - - - - DNA SEQ - - retinal disease Pat57 PubMed: Birtel 2018 family M - Germany - - - - - 1 LOVD
+?/. 22 c.3261A>C r.(?) p.(Glu1087Asp) Unknown ACMG likely pathogenic g.94508384T>G - - - ABCA4_000641 - Mena et al., 2020 submitted. - rs61752416 Germline ? - - - - DNA SEQ-NG-IT blood gene panel (ABCA4, CNGB3, ELOVL4, PROM1) STGD1 - Mena et al., 2020 submitted. - M no Argentina - - - - - 1 Marcela Mena
+/. 22 c.3261A>C r.(?) p.(Glu1087Asp) Unknown - pathogenic (recessive) g.94508384T>G g.94042828T>G c.3261A>C p.(E1087D) - ABCA4_000641 no variant 2nd chromosome PubMed: Schulz 2017 - - Unknown - - - - - DNA arraySEQ, SEQ-NG - RetChip retinal disease Unknown 445 PubMed: Schulz 2017 191 F, 144 M in this study - ? Germany - - - - - 1 Stéphanie Cornelis
+/. 22 c.3261A>C r.(?) p.(Glu1087Asp) Unknown - pathogenic (recessive) g.94508384T>G g.94042828T>G c.3261A>C (p.Glu1087Asp) - ABCA4_000641 no segregation analysis done PubMed: Zernant 2017 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease 3803 PubMed: Zernant 2017 - - ? United States - - - - - 1 Stéphanie Cornelis
+/. 22 c.3261A>C r.(?) p.(Glu1087Asp) Unknown - pathogenic (recessive) g.94508384T>G g.94042828T>G Glu1087Asp - ABCA4_000641 no segregation analysis done PubMed: Zuazo 2018 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease Patient 2 PubMed: Zuazo 2018 The patient also has Stickler’s syndrome with a corresponding mutation in COL11A2 (Gly1480Arg) F ? United States - - - - - 1 Stéphanie Cornelis
+/. 22 c.3261A>C r.(?) p.(Glu1087Asp) Unknown - pathogenic (recessive) g.94508384T>G g.94042828T>G het c.3261A>C p.Glu1087Asp - ABCA4_000641 - PubMed: Gliem 2020 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease 42 PubMed: Gliem 2020 - M ? Germany - - - - - 1 Stéphanie Cornelis
+/. 22 c.3261A>C r.(?) p.(Glu1087Asp) Unknown - pathogenic (recessive) g.94508384T>G g.94042828T>G c.3261A>C/p.E1087D - ABCA4_000641 no segregation analysis done PubMed: Weisschuh 2020 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease 556 PubMed: Weisschuh 2020 - F ? Germany - - - - - 1 Stéphanie Cornelis
+/. 22 c.3261A>C r.(?) p.(Glu1087Asp) Unknown - pathogenic (recessive) g.94508384T>G g.94042828T>G c.3261A>C/p.E1087D - ABCA4_000641 no segregation analysis done PubMed: Weisschuh 2020 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease 343 PubMed: Weisschuh 2020 - M ? Germany - - - - - 1 Stéphanie Cornelis
+/. 22 c.3261A>C r.(?) p.(Glu1087Asp) Unknown - pathogenic (recessive) g.94508384T>G g.94042828T>G c.3261A>C/p.E1087D - ABCA4_000641 no segregation analysis done PubMed: Weisschuh 2020 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease 344 PubMed: Weisschuh 2020 - F ? Germany - - - - - 1 Stéphanie Cornelis
+/. 22 c.3261A>C r.(?) p.(Glu1087Asp) Unknown - pathogenic (recessive) g.94508384T>G g.94042828T>G c.3261A>C p.Glu1087Asp Het - ABCA4_000641 - Prevention Genetics - - Unknown - - - - - DNA SEQ-NG - IRD panel retinal disease 2017-342-110 Prevention Genetics - - ? - - - - - - 1 Stéphanie Cornelis
+/. 22 c.3261A>C r.(?) p.(Glu1087Asp) Parent #1 - pathogenic (recessive) g.94508384T>G g.94042828T>G p.Glu1087Asp - ABCA4_000641 - PubMed: Birtel 2018 - - Unknown - - - - - DNA SEQ - - retinal disease 57 PubMed: Birtel 2018 - M ? Germany - - - - - 1 Stéphanie Cornelis
+/. 22 c.3261A>C r.(?) p.(Glu1087Asp) Unknown - pathogenic (recessive) g.94508384T>G g.94042828T>G c.3261A.C (p.E1087D) - ABCA4_000641 - PubMed: Collison 2019 - - Unknown - - - - - DNA SEQ-NG - - retinal disease 15 PubMed: Collison 2019 - F ? United States white - - - - 1 Stéphanie Cornelis
+/. 22 c.3261A>C r.(?) p.(Glu1087Asp) Unknown - pathogenic (recessive) g.94508384T>G g.94042828T>G c.3261A>C/p.(Glu1087Asp) - ABCA4_000641 - PubMed: Müller 2020 - - Unknown - - - - - DNA SEQ - - retinal disease 7 PubMed: Müller 2020 Likely a sibling of patient 8 M ? - - - - - - 1 Stéphanie Cornelis
+/. 22 c.3261A>C r.(?) p.(Glu1087Asp) Unknown - pathogenic (recessive) g.94508384T>G g.94042828T>G c.3261A>C/p.(Glu1087Asp) - ABCA4_000641 - PubMed: Müller 2020 - - Unknown - - - - - DNA SEQ - - retinal disease 8 PubMed: Müller 2020 Likely a sibling of patient 7 M ? - - - - - - 1 Stéphanie Cornelis
+/. 22 c.3261A>C r.(?) p.(Glu1087Asp) Unknown - pathogenic (recessive) g.94508384T>G g.94042828T>G het c.3261A>C p.Glu1087Asp - ABCA4_000641 - PubMed: Gliem 2020 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease 38 PubMed: Gliem 2020 - M ? Germany - - - - - 1 Stéphanie Cornelis
+/. 22 c.3261A>C r.(?) p.(Glu1087Asp) Unknown - pathogenic (recessive) g.94508384T>G g.94042828T>G c.3261A>C/p.E1087D - ABCA4_000641 no segregation analysis done PubMed: Weisschuh 2020 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease 632 PubMed: Weisschuh 2020 - F ? Germany - - - - - 1 Stéphanie Cornelis
+/. 22 c.3261A>C r.(?) p.(Glu1087Asp) Unknown - pathogenic (recessive) g.94508384T>G g.94042828T>G c.3261A>C/p.E1087D - ABCA4_000641 no segregation analysis done PubMed: Weisschuh 2020 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease 299 PubMed: Weisschuh 2020 - F ? Germany - - - - - 1 Stéphanie Cornelis
+/. 22 c.3261A>C r.(?) p.(Glu1087Asp) Unknown - pathogenic (recessive) g.94508384T>G g.94042828T>G c.3261A>C p.Glu1087Asp het - ABCA4_000641 - Prevention Genetics - - Unknown - - - - - DNA SEQ-NG - STGDMD panel retinal disease 2017-300-048 Prevention Genetics - - ? - England;Ireland;Germany - - - - 1 Stéphanie Cornelis
+/. 22 c.3261A>C r.(?) p.(Glu1087Asp) Unknown ACMG pathogenic g.94508384T>G g.94042828T>G - - ABCA4_000641 - PubMed: Tracewska 2019 - - Germline - 0 (in-house database, ~5000 samples) - - - DNA SEQ-NG-I, SEQ blood targeted resequencing using MIPs library prep, 108-gene panel retinal disease 385 PubMed: Tracewska 2019 proband F no Poland Slavic - - yes - 1 Anna Tracewska
+?/. - c.3261A>C r.(?) p.(Glu1087Asp) Unknown - likely pathogenic g.94508384T>G g.94042828T>G c.3261A>C, p.Glu1087Asp - ABCA4_000641 heterozygous PubMed: Zampaglione 2020 - - Unknown ? - - - - DNA SEQ-NG-I, SEQ blood - retinal disease OGI2900_004485 PubMed: Zampaglione 2020 - ? - - - - - - - 1 LOVD
+/. 22 c.3261A>C r.(?) p.(Glu1087Asp) Parent #2 - pathogenic (recessive) g.94508384T>G - c.3261A>C/p.(Glu1087Asp) - ABCA4_000641 - PubMed: Müller 2020 - - Unknown ? - - - - DNA SEQ, MLPA, SEQ-NG - - retinal disease 7 PubMed: Müller 2020 - M ? Germany - - - - - 1 LOVD
+/. 22 c.3261A>C r.(?) p.(Glu1087Asp) Parent #2 - pathogenic (recessive) g.94508384T>G - c.3261A>C/p.(Glu1087Asp) - ABCA4_000641 - PubMed: Müller 2020 - - Unknown ? - - - - DNA SEQ, MLPA, SEQ-NG - - retinal disease 8 PubMed: Müller 2020 - M ? Germany - - - - - 1 LOVD
+/. 22 c.3261A>C r.(?) p.(Glu1087Asp) Unknown - pathogenic (recessive) g.94508384T>G - c.3261A>C (p.E1087D)t - ABCA4_000641 - PubMed: Fritsche 2012 - - Unknown ? - - - - DNA SEQ - - retinal disease L-099-GA PubMed: Fritsche 2012 The genotypes for the CFH rs1061170, ARMS2 rs10490924 and C3 rs2230199 locations were T/T, G/T, C/C respectively. F ? Germany - - - - - 1 LOVD
+/. - c.3261A>C r.(?) p.(Glu1087Asp) Unknown - pathogenic (recessive) g.94508384T>G g.94042828T>G - - ABCA4_000641 no variant 2nd chromosome PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Unknown - - - - - DNA DHPLC, SEQ - - retinal disease L-0823 PubMed: Cornelis 2024, Journal: Cornelis 2024 - F - France - - - - - 1 Frans Cremers
+/. - c.3261A>C r.(?) p.(Glu1087Asp) Unknown ACMG pathogenic (recessive) g.94508384T>G g.94042828T>G - - ABCA4_000641 ACMG PP3, PM2, PM5, PM1, PP2, PP5_STRONG PubMed: Weisschuh 2024 - - Germline - - - - - DNA SEQ-NG - WGS ? STGD-383 PubMed: Weisschuh 2024 family, 2 affected F - Germany - - - - - 2 Johan den Dunnen
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