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.

18 entries on 1 page. Showing entries 1 - 18.
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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     

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Age at death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
?/. 29 c.4319T>C r.(?) p.(Phe1440Ser) Unknown - VUS g.94496017A>G g.94030461A>G 4319T>C - ABCA4_000130 - 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
+/. 29 c.4319T>C r.(?) p.(Phe1440Ser) Unknown - pathogenic g.94496017A>G g.94030461A>G F1440S - ABCA4_000130 - PubMed: September 2004, PubMed: Roberts 2012 - - Germline - - - - - DNA PCR, SSCA, HD, PCRdig, SEQ - - STGD1 - PubMed: September 2004 - ? ? South Africa ? - - - - 1 Stéphanie Cornelis
?/. 29 c.4319T>C r.(?) p.(Phe1440Ser) Unknown - VUS g.94496017A>G g.94030461A>G c.4319T>C - ABCA4_000130 - PubMed: Fujinami 2013 - - Germline - - - - - DNA PE - APEX STGD1 - PubMed: Fujinami 2013 - ? ? - ? - - - - 1 Stéphanie Cornelis
?/. 29 c.4319T>C r.(?) p.(Phe1440Ser) Unknown - VUS g.94496017A>G g.94030461A>G c.4319T>C - ABCA4_000130 - PubMed: Fujinami 2013 - - Germline - - - - - DNA PE, PCR, SEQ, SEQ-NG-R - APEX ? - PubMed: Fujinami 2013 - ? ? United Kingdom (Great Britain) ? - - - - 1 Stéphanie Cornelis
+/. 29 c.4319T>C r.(4319u>c) p.(Phe1440Ser) Parent #1 ACMG pathogenic (recessive) g.94496017A>G g.94030461A>G - - ABCA4_000130 - PubMed: Cornelis 2017, Journal: Cornelis 2017, Journal: Cornelis 2023 - - SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.4319T>C r.(?) p.(Phe1440Ser) Unknown - pathogenic (recessive) g.94496017A>G - 1:94496017A>G ENST00000370225.3:c.4319T>C (Phe1440Ser) - ABCA4_000130 - PubMed: Carss 2017 - - Germline - - - - - DNA SEQ-NG - WGS retinal disease G007729 PubMed: Carss 2017 - M - United Kingdom (Great Britain) Europe - - - - 1 LOVD
+?/. 29 c.4319T>C r.(?) p.(Phe1440Ser) Paternal (confirmed) - likely pathogenic (recessive) g.94496017A>G g.94030461A>G 1440ser already known - ABCA4_000130 - PubMed: Roberts 2009 - - Unknown yes - - - - DNA PE, SEQ - APEX retinal disease RPS141 PubMed: Roberts 2009 - M ? South Africa - - - - - 1 Stéphanie Cornelis
+?/. 29 c.4319T>C r.(?) p.(Phe1440Ser) Parent #2 - likely pathogenic (recessive) g.94496017A>G g.94030461A>G [c.6282+7G>A>A,c.4319T>C] - ABCA4_000130 - PubMed: Midgley 2020 - - Unknown - - - - - DNA PE, SSCA, SEQ - SSCP or APEX or SEQ retinal disease Unknown 1103 PubMed: Midgley 2020 - - ? South Africa - - - - - 1 Stéphanie Cornelis
+?/. 29 c.4319T>C r.(?) p.(Phe1440Ser) Unknown - likely pathogenic (recessive) g.94496017A>G g.94030461A>G c.4319T>C p.(F1440S) - ABCA4_000130 - PubMed: Khan 2020 - - Unknown yes - - - - DNA SEQ-NG-I - - retinal disease 16063 PubMed: Khan 2020 - M ? United Kingdom (Great Britain) - - - - - 1 Stéphanie Cornelis
+?/. 29 c.4319T>C r.(?) p.(Phe1440Ser) Unknown - likely pathogenic (recessive) g.94496017A>G g.94030461A>G ENST00000370225.3:c.4319T>C p.Phe1440Ser 0/1 - ABCA4_000130 - PubMed: Carss 2017 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease G007729 PubMed: Carss 2017 - M ? England white - - - - 1 Stéphanie Cornelis
+?/. 29 c.4319T>C r.(?) p.(Phe1440Ser) Unknown - likely pathogenic (recessive) g.94496017A>G g.94030461A>G c.4319T>C p.Phe1440Ser het - ABCA4_000130 - Prevention Genetics - - Unknown - - - - - DNA SEQ-NG - ABCA4 Panel retinal disease 2016-230-009 Prevention Genetics - - ? - German, Irish, Scottish - - - - 1 Stéphanie Cornelis
+?/. 29 c.4319T>C r.(?) p.(Phe1440Ser) Unknown - likely pathogenic (recessive) g.94496017A>G g.94030461A>G c.4319T>C, p.Phe1440Ser Heterozygous - ABCA4_000130 - PubMed: Goetz 2020 - - Unknown - - - - - DNA SEQ-NG-I - solid state SBS retinal disease 1830-2421 PubMed: Goetz 2020 - - ? - - - - - - 1 Stéphanie Cornelis
+?/. 29 c.4319T>C r.(?) p.(Phe1440Ser) Unknown - likely pathogenic (recessive) g.94496017A>G g.94030461A>G c.4319T>C, p.Phe1440Ser Heterozygous - ABCA4_000130 - PubMed: Goetz 2020 - - Unknown - - - - - DNA SEQ-NG-I - solid state SBS retinal disease 1981-3509 PubMed: Goetz 2020 - - ? - - - - - - 1 Stéphanie Cornelis
+?/. 29 c.4319T>C r.(?) p.(Phe1440Ser) Unknown - likely pathogenic (recessive) g.94496017A>G g.94030461A>G c.4319T>C, p.F1440S Heterozygous - ABCA4_000130 - PubMed: Goetz 2020 - - Unknown - - - - - DNA arraySEQ, SEQ - Gene Chip retinal disease 625-1169 PubMed: Goetz 2020 - - ? - - - - - - 1 Stéphanie Cornelis
+?/. 29 c.4319T>C r.(?) p.(Phe1440Ser) Unknown - likely pathogenic (recessive) g.94496017A>G g.94030461A>G c.4319T>C, p.F1440S Heterozygous - ABCA4_000130 - PubMed: Goetz 2020 - - Unknown - - - - - DNA arraySEQ, SEQ - Gene Chip retinal disease 626-1169 PubMed: Goetz 2020 626 is a family member of 625 - ? - - - - - - 1 Stéphanie Cornelis
+?/. - c.4319T>C r.(?) p.(Phe1440Ser) Unknown - likely pathogenic g.94496017A>G g.94030461A>G ABCA4 c.4319T>C, p.Phe1440Ser - ABCA4_000130 heterozygous PubMed: Turro 2020 - - Germline/De novo (untested) ? - - - - DNA SEQ-NG-I blood whole genome sequencing retinal disease G007729 PubMed: Turro 2020 only individuals with mutations in retinal disease genes from this publication were inserted into LOVD ? - (United Kingdom (Great Britain)) - - - - - 1 LOVD
+/. - c.4319T>C r.(?) p.(Phe1440Ser) Unknown - pathogenic (recessive) g.94496017A>G g.94030461A>G - - ABCA4_000130 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Germline/De novo (untested) - - - - - DNA SEQ - - retinal disease MEH-nonmild-100 PubMed: Cornelis 2024, Journal: Cornelis 2024 - M - United Kingdom (Great Britain) - - - - - 1 Stéphanie Cornelis
+/. - c.4319T>C r.(?) p.(Phe1440Ser) Unknown ACMG pathogenic (recessive) g.94496017A>G g.94030461A>G - - ABCA4_000130 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Germline/De novo (untested) - - - - - DNA SEQ - - retinal disease MEH-nonmild-172 PubMed: Cornelis 2024, Journal: Cornelis 2024 relative of MEH-nonmild-171, MEH-other-48, MEH-other-47 F - United Kingdom (Great Britain) - - - - - 1 Stéphanie Cornelis
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