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.

16 entries on 1 page. Showing entries 1 - 16.
Legend   How to query  

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     
+/. 19 c.2813T>C r.(?) p.(Phe938Ser) Unknown - pathogenic g.94512580A>G g.94047024A>G p.F938S - ABCA4_000695 On its own not significantely found more often in published STGD compared to ExAC (p-value 0.29). However, together with other non-significant variants published related to STGD, they are significantly more often in STGD patients (p-value <0.01). PubMed: Duncker 2015 - - Germline - 5, 121110, 0, 0.00004128 - - - DNA PE, SEQ-NG-I - APEX ? - PubMed: Duncker 2015 - F ? - Hispanic - - - - 1 Stéphanie Cornelis
+?/. 19 c.2813T>C r.(2813u>c) p.(Phe938Ser) Parent #1 ACMG likely pathogenic (recessive) g.94512580A>G g.94047024A>G - - ABCA4_000695 not statistically tested, classification unknown PubMed: Cornelis 2017, Journal: Cornelis 2017, Journal: Cornelis 2023 - - SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.2813T>C r.(?) p.(Phe938Ser) Unknown - pathogenic (recessive) g.94512580A>G - 1:94512580A>G ENST00000370225.3:c.2813T>C (Phe938Ser) - ABCA4_000695 - PubMed: Carss 2017 - - Germline - - - - - DNA SEQ-NG - WGS retinal disease G001049 PubMed: Carss 2017 - M - United Kingdom (Great Britain) Africa - - - - 1 LOVD
?/. 19 c.2813T>C r.(?) p.(Phe938Ser) Unknown - VUS g.94512580A>G g.94047024A>G c.2813T>C (p.Phe938Ser) - ABCA4_000695 no segregation analysis done PubMed: Zernant 2017 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease 3956 PubMed: Zernant 2017 - - ? United States - - - - - 1 Stéphanie Cornelis
?/. 19 c.2813T>C r.(?) p.(Phe938Ser) Parent #1 - VUS g.94512580A>G g.94047024A>G c.2813T>C (p.Phe938Ser) - ABCA4_000695 - PubMed: Zernant 2017 - - Unknown yes - - - - DNA SEQ-NG-I - - retinal disease 3912 PubMed: Zernant 2017 - - ? United States - - - - - 1 Stéphanie Cornelis
?/. 19 c.2813T>C r.(?) p.(Phe938Ser) Unknown - VUS g.94512580A>G g.94047024A>G ENST00000370225.3:c.2813T>C p.Phe938Ser 0/1 - ABCA4_000695 - PubMed: Carss 2017 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease G001049 PubMed: Carss 2017 - M ? England Africa - - - - 1 Stéphanie Cornelis
?/. 19 c.2813T>C r.(?) p.(Phe938Ser) Unknown - VUS g.94512580A>G g.94047024A>G c.2813T>C,p.Phe938Ser - ABCA4_000695 - PubMed: Fujinami 2019 - - Unknown - - - - - DNA SEQ-NG - SEQ-NG (143 cases), APEX (44 cases), SSCP (24 cases), SEQ (134) retinal disease 13098 PubMed: Fujinami 2019 191 F, 154 M in this study - ? France - - - - - 1 Stéphanie Cornelis
+?/. - c.2813T>C r.(?) p.(Phe938Ser) Unknown - likely pathogenic g.94512580A>G g.94047024A>G ABCA4 c.2813T>C, p.Phe938Ser - ABCA4_000695 heterozygous PubMed: Turro 2020 - - Germline/De novo (untested) ? - - - - DNA SEQ-NG-I blood whole genome sequencing retinal disease G001049 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.2813T>C r.(?) p.(Phe938Ser) Both (homozygous) ACMG pathogenic g.94512580A>G g.94047024A>G - - ABCA4_000695 - PubMed: Hitti-Malin 2022, Journal: Hitti-Malin 2022 - - Germline - - - - - DNA MIPsm - smMIPs 105 iMD/AMD genes retinal disease 070902 PubMed: Hitti-Malin 2022, Journal: Hitti-Malin 2022 - M - - - - - - - 1 Rebekkah Hitti-Malin
+/. 19 c.2813T>C r.(?) p.(Phe938Ser) Parent #2 - pathogenic g.94512580A>G - c.2813T>C - ABCA4_000695 - PubMed: Panneman 2023 - - Unknown - - - - - DNA SEQ - RP-LCA smMIPs sequencing RP - PubMed: Panneman 2023 - F - - - - - - - 1 Daan Panneman
+?/. 19 c.2813T>C r.(?) p.(Phe938Ser) Parent #1 ACMG likely pathogenic (recessive) g.94512580A>G g.94047024A>G - - ABCA4_000695 - PubMed: Corradi 2023, Journal: Corradi 2023 - - Germline - - - - - DNA MIPsm, SEQ-NG - - retinal disease Pat62 PubMed: Corradi 2023, Journal: Corradi 2023 - F - - - - - - - 1 Zelia Corradi
+?/. - c.2813T>C r.(?) p.(Phe938Ser) Unknown - likely pathogenic (recessive) g.94512580A>G g.94047024A>G - - ABCA4_000695 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease L-0547 PubMed: Cornelis 2024, Journal: Cornelis 2024 - M - France - - - - - 1 Frans Cremers
+?/. - c.2813T>C r.(?) p.(Phe938Ser) Unknown - likely pathogenic (recessive) g.94512580A>G g.94047024A>G - - ABCA4_000695 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Germline/De novo (untested) - - - - - DNA SEQ - - retinal disease MEH-nonmild-184 PubMed: Cornelis 2024, Journal: Cornelis 2024 - M - United Kingdom (Great Britain) - - - - - 1 Stéphanie Cornelis
+?/. - c.2813T>C r.(?) p.(Phe938Ser) Unknown - likely pathogenic (recessive) g.94512580A>G g.94047024A>G - - ABCA4_000695 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Germline/De novo (untested) - - - - - DNA SEQ - - retinal disease MEH-nonmild-209 PubMed: Cornelis 2024, Journal: Cornelis 2024 - M - United Kingdom (Great Britain) - - - - - 1 Stéphanie Cornelis
+?/. - c.2813T>C r.(?) p.(Phe938Ser) Unknown - likely pathogenic (recessive) g.94512580A>G g.94047024A>G - - ABCA4_000695 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Germline/De novo (untested) - - - - - DNA SEQ - - retinal disease MEH-nonmild-309 PubMed: Cornelis 2024, Journal: Cornelis 2024 - M - United Kingdom (Great Britain) - - - - - 1 Stéphanie Cornelis
+?/. - c.2813T>C r.(?) p.(Phe938Ser) Unknown - likely pathogenic (recessive) g.94512580A>G g.94047024A>G - - ABCA4_000695 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Germline/De novo (untested) - - - - - DNA SEQ - - retinal disease MEH-nonmild-432 PubMed: Cornelis 2024, Journal: Cornelis 2024 - F - United Kingdom (Great Britain) - - - - - 1 Stéphanie Cornelis
Legend   How to query  


Screenscraping/webscraping (downloading large amounts of data using scripts) is strictly prohibited.
Use our APIs to retrieve data.