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.

19 entries on 1 page. Showing entries 1 - 19.
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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     

Consanguinity     

Country     

Population     

Age at death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
?/. 30 c.4538A>G r.(?) p.(Gln1513Arg) Unknown - VUS g.94495002T>C g.94029446T>C 4538A>G - ABCA4_000533 - 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
+?/. 30 c.4538A>G r.(?) p.(Gln1513Arg) Unknown - likely pathogenic g.94495002T>C g.94029446T>C c.4538A>G - ABCA4_000533 - PubMed: Fujinami 2013 - - Germline ? - - - - DNA PE, PCR, SEQ, SEQ-NG-R - APEX ? - PubMed: Fujinami 2013 - ? ? United Kingdom (Great Britain) ? - - - - 1 Stéphanie Cornelis
+/. 30 c.4538A>G r.[4539_4540ins4540+1_4530+30,4467_4539del] p.[Arg1513_Arg1514insX[10],Cys1490GlufsTer12] Parent #1 ACMG pathogenic (recessive) g.94495002T>C g.94029446T>C - - ABCA4_000533 - PubMed: Cornelis 2017, Journal: Cornelis 2017, Journal: Cornelis 2023 - - SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
+/. 30 c.4538A>G r.[4539_4540ins4539+1_4539+30,4467_4539del] p.[(Arg1513_Arg1514ins10,Cys1490Glufs∗12)] Unknown - NA g.94495002T>C g.94029446T>C - - ABCA4_000533 expression cloning midigene splicing construct: no correctly spliced RNA PubMed: Sangermano 2018 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.4538A>G r.(?) p.(Gln1513Arg) Unknown - likely pathogenic g.94495002T>C - 1:94495002T>C ENST00000370225.3:c.4538A>G (Gln1513Arg) - ABCA4_000533 - PubMed: Carss 2017 - - Germline - - - - - DNA SEQ-NG - WGS retinal disease G009835 PubMed: Carss 2017 - M - United Kingdom (Great Britain) Africa - - - - 1 LOVD
+?/. - c.4538A>G r.(?) p.(Gln1513Arg) Parent #1 - likely pathogenic g.94495002T>C g.94029446T>C - - ABCA4_000533 - PubMed: Stone 2017 - - Germline - - - - - DNA SEQ-NG - - retinal disease 800 PubMed: Stone 2017 1 affected M - (United States) - - - - - 1 LOVD
+?/. 30 c.4538A>G r.[4539_4540ins4540+1_4530+30,4467_4539del] p.(Arg1513_Arg1514ins10,Cys1490Glufs*12) Unknown - likely pathogenic (recessive) g.94495002T>C g.94029446T>C c.4538A>G (p.Gln1513Arg) - ABCA4_000533 no segregation analysis done PubMed: Zernant 2017 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease 3934 PubMed: Zernant 2017 - - ? United States - - - - - 1 Stéphanie Cornelis
+?/. 30 c.4538A>G r.[4539_4540ins4540+1_4530+30,4467_4539del] p.(Arg1513_Arg1514ins10,Cys1490Glufs*12) Parent #1 - likely pathogenic (recessive) g.94495002T>C g.94029446T>C c.4538A>G Gln1513Arg CAG>CGG - ABCA4_000533 - PubMed: Stone 2017 - - Unknown yes - - - - DNA SEQ-NG-I - - retinal disease 800 PubMed: Stone 2017 - M ? - - - - - - 1 Stéphanie Cornelis
+?/. 30 c.4538A>G r.[4539_4540ins4540+1_4530+30,4467_4539del] p.(Arg1513_Arg1514ins10,Cys1490Glufs*12) Unknown - likely pathogenic (recessive) g.94495002T>C g.94029446T>C c.4538A>G,p.Gln1513Arg (splicesite alteration) - ABCA4_000533 - PubMed: Fujinami 2019 - - Unknown - - - - - DNA SEQ-NG - SEQ-NG (143 cases), APEX (44 cases), SSCP (24 cases), SEQ (134) retinal disease 17042 PubMed: Fujinami 2019 191 F, 154 M in this study - ? United States - - - - - 1 Stéphanie Cornelis
+?/. 30 c.4538A>G r.[4539_4540ins4540+1_4530+30,4467_4539del] p.(Arg1513_Arg1514ins10,Cys1490Glufs*12) Unknown - likely pathogenic (recessive) g.94495002T>C g.94029446T>C ENST00000370225.3:c.4538A>G p.Gln1513Arg 0/1 - ABCA4_000533 no variant 2nd chromosome PubMed: Carss 2017 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease G009835 PubMed: Carss 2017 - M ? England Africa - - - - 1 Stéphanie Cornelis
+?/. 30 c.4538A>G r.[4539_4540ins4540+1_4530+30,4467_4539del] p.(Arg1513_Arg1514ins10,Cys1490Glufs*12) Unknown - likely pathogenic (recessive) g.94495002T>C g.94029446T>C c.4538A>G/p.Q1513R - ABCA4_000533 no segregation analysis done PubMed: Weisschuh 2020 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease 181 PubMed: Weisschuh 2020 - F ? Germany - - - - - 1 Stéphanie Cornelis
+?/. 30 c.4538A>G r.[4539_4540ins4540+1_4530+30,4467_4539del] p.(Arg1513_Arg1514ins10,Cys1490Glufs*12) Unknown - likely pathogenic (recessive) g.94495002T>C g.94029446T>C c.4538A>G p.Gln1513Arg het - ABCA4_000533 - Prevention Genetics - - Unknown - - - - - DNA SEQ-NG - STGDMD panel retinal disease 2017-090-257 Prevention Genetics - - ? - - - - - - 1 Stéphanie Cornelis
+?/. 30 c.4538A>G r.[4539_4540ins4540+1_4530+30,4467_4539del] p.(Arg1513_Arg1514ins10,Cys1490Glufs*12) Unknown - likely pathogenic (recessive) g.94495002T>C g.94029446T>C c.4538A>G p.Gln1513Arg Het - ABCA4_000533 - Prevention Genetics - - Unknown - - - - - DNA SEQ-NG - IRD panel retinal disease 2019-182-234 Prevention Genetics - - ? - African American - - - - 1 Stéphanie Cornelis
+?/. 30 c.4538A>G r.[4539_4540ins4540+1_4530+30,4467_4539del] p.(Arg1513_Arg1514ins10,Cys1490Glufs*12) Unknown - likely pathogenic (recessive) g.94495002T>C g.94029446T>C c.4538A>G, p.Gln1513Arg Heterozygous - ABCA4_000533 - PubMed: Goetz 2020 - - Unknown - - - - - DNA SEQ-NG-I - solid state SBS retinal disease 3119-3851 PubMed: Goetz 2020 - - ? - - - - - - 1 Stéphanie Cornelis
+?/. 30 c.4538A>G r.[4539_4540ins4540+1_4530+30,4467_4539del] p.(Arg1513_Arg1514ins10,Cys1490Glufs*12) Unknown - likely pathogenic (recessive) g.94495002T>C g.94029446T>C c.4538A>G, p.Gln1513Arg Heterozygous - ABCA4_000533 - PubMed: Goetz 2020 - - Unknown - - - - - DNA SEQ-NG-I - solid state SBS retinal disease 4653-5655 PubMed: Goetz 2020 - - ? - - - - - - 1 Stéphanie Cornelis
+?/. 30 c.4538A>G r.[4539_4540ins4540+1_4530+30,4467_4539del] p.(Arg1513_Arg1514ins10,Cys1490Glufs*12) Unknown - likely pathogenic (recessive) g.94495002T>C g.94029446T>C c.4538A>G, p.Gln1513Arg Heterozygous - ABCA4_000533 - PubMed: Goetz 2020 - - Unknown - - - - - DNA SEQ - - retinal disease 5978-7471 PubMed: Goetz 2020 - - ? - - - - - - 1 Stéphanie Cornelis
+?/. - c.4538A>G r.(?) p.(Gln1513Arg) Unknown - likely pathogenic g.94495002T>C g.94029446T>C ABCA4 c.4538A>G, p.Gln1513Arg - ABCA4_000533 heterozygous PubMed: Turro 2020 - - Germline/De novo (untested) ? - - - - DNA SEQ-NG-I blood whole genome sequencing retinal disease G009835 PubMed: Turro 2020 only individuals with mutations in retinal disease genes from this publication were inserted into LOVD ? - - - - - - - 1 LOVD
+/. - c.4538A>G r.[(4539_4540ins4540+1_4530+30,4467_4539del)] p.[(Arg1513_Arg1514ins10,Cys1490Glufs*12)] Unknown - pathogenic (recessive) g.94495002T>C g.94029446T>C - - ABCA4_000533 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Germline/De novo (untested) - - - - - DNA SEQ - - retinal disease MEH-nonmild-353 PubMed: Cornelis 2024, Journal: Cornelis 2024 - F - United Kingdom (Great Britain) - - - - - 1 Stéphanie Cornelis
+/. - c.4538A>G r.[(4539_4540ins4540+1_4530+30,4467_4539del)] p.[(Arg1513_Arg1514ins10,Cys1490Glufs*12)] Unknown - pathogenic (recessive) g.94495002T>C g.94029446T>C - - ABCA4_000533 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Germline/De novo (untested) - - - - - DNA SEQ - - retinal disease MEH-nonmild-79 PubMed: Cornelis 2024, Journal: Cornelis 2024 - M - United Kingdom (Great Britain) - - - - - 1 Stéphanie Cornelis
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