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.

32 entries on 1 page. Showing entries 1 - 32.
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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     

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Owner     
+?/. 16 c.2570T>C r.(?) p.(Leu857Pro) Parent #1 - likely pathogenic g.94520684A>G g.94055128A>G - - ABCA4_001069 - PubMed: Khan 2019 - - Germline yes - - - - DNA SEQ, MIPsm - - STGD1 ? PubMed: Khan 2019 - - - France - - - - - 1 Stéphanie Cornelis
+?/. 16 c.2570T>C r.(?) p.(Leu857Pro) Parent #1 - likely pathogenic (recessive) g.94520684A>G g.94055128A>G c.2570T>C p.(Leu857Pro) - ABCA4_001069 - PubMed: Khan 2019 - - Unknown yes - - - - DNA SEQ-NG, MIPsm - smMIPs of exons and few intronic regions retinal disease 67185 PubMed: Khan 2019 - - ? France - - - - - 1 Stéphanie Cornelis
+?/. 16 c.2570T>C r.(?) p.(Leu857Pro) Both (homozygous) - likely pathogenic (recessive) g.94520684A>G g.94055128A>G c.5882G.A; p.G1961E/c.2570T.C;pL857P - ABCA4_001069 - PubMed: Khan 2019 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease 1 PubMed: Khan 2019 - M ? United Arab Emirates United Arab Emirates - - - - 1 Stéphanie Cornelis
+?/. 16 c.2570T>C r.(?) p.(Leu857Pro) Both (homozygous) - likely pathogenic (recessive) g.94520684A>G g.94055128A>G c.5882G.A; p.G1961E/c.2570T.C; pL857P - ABCA4_001069 - PubMed: Khan 2019 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease 4 PubMed: Khan 2019 - F ? United Arab Emirates United Arab Emirates - - - - 1 Stéphanie Cornelis
+?/. 16 c.2570T>C r.(?) p.(Leu857Pro) Both (homozygous) - likely pathogenic (recessive) g.94520684A>G g.94055128A>G c.5882G.A; p.G1961E/c.2570T.C; pL857P - ABCA4_001069 - PubMed: Khan 2019 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease 5 PubMed: Khan 2019 - M ? United Arab Emirates United Arab Emirates - - - - 1 Stéphanie Cornelis
+?/. 16 c.2570T>C r.(?) p.(Leu857Pro) Both (homozygous) - likely pathogenic (recessive) g.94520684A>G g.94055128A>G c.5882G.A; p.G1961E/c.2570T.C; pL857P - ABCA4_001069 - PubMed: Khan 2019 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease 6 PubMed: Khan 2019 Sibling of patient 7 M ? United Arab Emirates United Arab Emirates - - - - 1 Stéphanie Cornelis
+?/. 16 c.2570T>C r.(?) p.(Leu857Pro) Both (homozygous) - likely pathogenic (recessive) g.94520684A>G g.94055128A>G c.5882G.A; p.G1961E/c.2570T.C; pL857P - ABCA4_001069 - PubMed: Khan 2019 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease 7 PubMed: Khan 2019 Sibling of patient 6 F ? United Arab Emirates United Arab Emirates - - - - 1 Stéphanie Cornelis
+?/. 16 c.2570T>C r.(?) p.(Leu857Pro) Both (homozygous) - likely pathogenic (recessive) g.94520684A>G g.94055128A>G c.5882G.A; p.G1961E/c.2570T.C; pL857P - ABCA4_001069 - PubMed: Khan 2019 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease 8 PubMed: Khan 2019 - F ? United Arab Emirates United Arab Emirates - - - - 1 Stéphanie Cornelis
+?/. 16 c.2570T>C r.(?) p.(Leu857Pro) Both (homozygous) - likely pathogenic (recessive) g.94520684A>G g.94055128A>G c.5882G.A; p.G1961E/c.2570T.C;pL857P - ABCA4_001069 - PubMed: Khan 2019 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease 10 PubMed: Khan 2019 - F ? United Arab Emirates United Arab Emirates - - - - 1 Stéphanie Cornelis
+?/. 16 c.2570T>C r.(?) p.(Leu857Pro) Both (homozygous) - likely pathogenic (recessive) g.94520684A>G g.94055128A>G c.5882G.A; p.G1961E/c.2570T.C;pL857P - ABCA4_001069 - PubMed: Khan 2019 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease 11 PubMed: Khan 2019 - M ? United Arab Emirates United Arab Emirates - - - - 1 Stéphanie Cornelis
+?/. 16 c.2570T>C r.(?) p.(Leu857Pro) Both (homozygous) - likely pathogenic (recessive) g.94520684A>G g.94055128A>G c.5882G.A; p.G1961E/c.2570T.C;pL857P - ABCA4_001069 - PubMed: Khan 2019 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease 12 PubMed: Khan 2019 - F ? United Arab Emirates United Arab Emirates - - - - 1 Stéphanie Cornelis
+?/. 16 c.2570T>C r.(?) p.(Leu857Pro) Both (homozygous) - likely pathogenic (recessive) g.94520684A>G g.94055128A>G c.5882G.A; p.G1961E/c.2570T.C; pL857P - ABCA4_001069 - PubMed: Khan 2019 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease 13 PubMed: Khan 2019 - F ? United Arab Emirates United Arab Emirates - - - - 1 Stéphanie Cornelis
+?/. 16 c.2570T>C r.(?) p.(Leu857Pro) Both (homozygous) - likely pathogenic (recessive) g.94520684A>G g.94055128A>G c.5882G.A; p.G1961E/c.2570T.C; pL857P - ABCA4_001069 - PubMed: Khan 2019 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease 14 PubMed: Khan 2019 - F ? United Arab Emirates United Arab Emirates - - - - 1 Stéphanie Cornelis
+?/. 16 c.2570T>C r.(?) p.(Leu857Pro) Unknown - likely pathogenic (recessive) g.94520684A>G g.94055128A>G c.5882G.A; p.G1961E/c.2570T.C; p.Leu857Pro - ABCA4_001069 - PubMed: Khan 2019 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease 15 PubMed: Khan 2019 Sibling of patient 16 F ? United Arab Emirates United Arab Emirates - - - - 1 Stéphanie Cornelis
+?/. 16 c.2570T>C r.(?) p.(Leu857Pro) Unknown - likely pathogenic (recessive) g.94520684A>G g.94055128A>G c.5882G.A; p.G1961E/c.2570T.C; p.Leu857Pro - ABCA4_001069 - PubMed: Khan 2019 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease 16 PubMed: Khan 2019 Sibling of patient 15 M ? United Arab Emirates United Arab Emirates - - - - 1 Stéphanie Cornelis
+?/. 16 c.2570T>C r.(?) p.(Leu857Pro) Unknown - likely pathogenic (recessive) g.94520684A>G g.94055128A>G c.5882G.A; p.G1961E/c.2570t.C;p.Leu857Pro - ABCA4_001069 - PubMed: Khan 2019 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease 22 PubMed: Khan 2019 - F ? United Arab Emirates United Arab Emirates - - - - 1 Stéphanie Cornelis
+?/. 16 c.2570T>C r.(?) p.(Leu857Pro) Unknown - likely pathogenic (recessive) g.94520684A>G g.94055128A>G c.5882G>A p.(Gly1961Glu) Het c.2570T>C p.(Leu857Pro)a Het - ABCA4_001069 - PubMed: Méjécase 2020 - - Unknown - - - - - DNA ? - - retinal disease Family 23 PubMed: Méjécase 2020 - - ? United Arab Emirates Dubai - - - - 1 Stéphanie Cornelis
+?/. 16 c.2570T>C r.(?) p.(Leu857Pro) Unknown - likely pathogenic (recessive) g.94520684A>G g.94055128A>G c.2570T>C p.(Leu857Pro) Het - ABCA4_001069 - PubMed: Méjécase 2020 - - Unknown - - - - - DNA ? - - retinal disease Family 27 PubMed: Méjécase 2020 - - ? United Arab Emirates Dubai - - - - 1 Stéphanie Cornelis
+?/. 16 c.2570T>C r.(?) p.(Leu857Pro) Both (homozygous) - likely pathogenic (recessive) g.94520684A>G g.94055128A>G c.2570T>C p.(Leu857Pro) Hom - ABCA4_001069 - PubMed: Méjécase 2020 - - Unknown - - - - - DNA ? - - retinal disease Family 31 PubMed: Méjécase 2020 - - ? United Arab Emirates Dubai - - - - 1 Stéphanie Cornelis
+?/. 16 c.2570T>C r.(?) p.(Leu857Pro) Both (homozygous) - likely pathogenic (recessive) g.94520684A>G g.94055128A>G c.2570T>C p.(Leu857Pro) Hom - ABCA4_001069 - PubMed: Méjécase 2020 - - Unknown - - - - - DNA ? - - retinal disease Family 31 PubMed: Méjécase 2020 - - ? United Arab Emirates Dubai - - - - 1 Stéphanie Cornelis
+?/. - c.2570T>C r.(?) p.(Leu857Pro) Both (homozygous) - likely pathogenic g.94520684A>G g.94055128A>G Allele 1 c.5882G>A (p.Gly1961Glu)/c.2570T (p.Leu857Pro), Allele 2 c.5882G>A (p.Gly1961Glu)/c.2570T (p.Leu857Pro) - ABCA4_001069 homozygous PubMed: Khan 2019 - - Germline/De novo (untested) ? - - - - DNA ? - retrospective study retinal disease - PubMed: Khan 2019 - F - - - - - - - 1 LOVD
+?/. - c.2570T>C r.(?) p.(Leu857Pro) Both (homozygous) - likely pathogenic g.94520684A>G g.94055128A>G Allele 1 c.5882G>A (p.Gly1961Glu)/c.2570T (p.Leu857Pro), Allele 2 c.5882G>A (p.Gly1961Glu)/c.2570T (p.Leu857Pro) - ABCA4_001069 homozygous PubMed: Khan 2019 - - Germline/De novo (untested) ? - - - - DNA ? - retrospective study retinal disease - PubMed: Khan 2019 - F - - - - - - - 1 LOVD
+?/. - c.2570T>C r.(?) p.(Leu857Pro) Both (homozygous) - likely pathogenic g.94520684A>G g.94055128A>G Allele 1 c.5882G>A (p.Gly1961Glu)/c.2570T (p.Leu857Pro), Allele 2 c.5882G>A (p.Gly1961Glu)/c.2570T (p.Leu857Pro) - ABCA4_001069 homozygous PubMed: Khan 2019 - - Germline/De novo (untested) ? - - - - DNA ? - retrospective study retinal disease - PubMed: Khan 2019 - F - - - - - - - 1 LOVD
+?/. - c.2570T>C r.(?) p.(Leu857Pro) Both (homozygous) - likely pathogenic g.94520684A>G g.94055128A>G Allele 1 c.5882G>A (p.Gly1961Glu)/c.2570T (p.Leu857Pro), Allele 2 c.5882G>A (p.Gly1961Glu)/c.2570T (p.Leu857Pro) - ABCA4_001069 homozygous PubMed: Khan 2019 - - Germline/De novo (untested) ? - - - - DNA ? - retrospective study retinal disease - PubMed: Khan 2019 - M - - - - - - - 1 LOVD
+?/. - c.2570T>C r.(?) p.(Leu857Pro) Both (homozygous) - likely pathogenic g.94520684A>G g.94055128A>G Allele 1 c.5882G>A (p.Gly1961Glu)/c.2570T (p.Leu857Pro), Allele 2 c.5882G>A (p.Gly1961Glu)/c.2570T (p.Leu857Pro) - ABCA4_001069 homozygous PubMed: Khan 2019 - - Germline/De novo (untested) ? - - - - DNA ? - retrospective study retinal disease - PubMed: Khan 2019 - M - - - - - - - 1 LOVD
+?/. - c.2570T>C r.(?) p.(Leu857Pro) Both (homozygous) - likely pathogenic g.94520684A>G g.94055128A>G Allele 1 c.5882G>A (p.Gly1961Glu)/c.2570T (p.Leu857Pro), Allele 2 c.5882G>A (p.Gly1961Glu)/c.2570T (p.Leu857Pro) - ABCA4_001069 homozygous PubMed: Khan 2019 - - Germline/De novo (untested) ? - - - - DNA ? - retrospective study retinal disease - PubMed: Khan 2019 - M - - - - - - - 1 LOVD
+?/. - c.2570T>C r.(?) p.(Leu857Pro) Both (homozygous) - likely pathogenic g.94520684A>G g.94055128A>G Allele 1 c.5882G>A (p.Gly1961Glu)/c.2570T (p.Leu857Pro), Allele 2 c.5882G>A (p.Gly1961Glu)/c.2570T (p.Leu857Pro) - ABCA4_001069 homozygous PubMed: Khan 2019 - - Germline/De novo (untested) ? - - - - DNA ? - retrospective study retinal disease - PubMed: Khan 2019 - M - - - - - - - 1 LOVD
+?/. - c.2570T>C r.(?) p.(Leu857Pro) Both (homozygous) - likely pathogenic g.94520684A>G g.94055128A>G Allele 1 c.5882G>A (p.Gly1961Glu)/c.2570T (p.Leu857Pro), Allele 2 c.5882G>A (p.Gly1961Glu)/c.2570T (p.Leu857Pro) - ABCA4_001069 homozygous PubMed: Khan 2019 - - Germline/De novo (untested) ? - - - - DNA ? - retrospective study retinal disease - PubMed: Khan 2019 - M - - - - - - - 1 LOVD
+?/. - c.2570T>C r.(?) p.(Leu857Pro) Both (homozygous) - likely pathogenic g.94520684A>G g.94055128A>G Allele 1 c.5882G>A (p.Gly1961Glu)/c.2570T (p.Leu857Pro), Allele 2 c.5882G>A (p.Gly1961Glu)/c.2570T (p.Leu857Pro) - ABCA4_001069 homozygous PubMed: Khan 2019 - - Germline/De novo (untested) ? - - - - DNA ? - retrospective study retinal disease - PubMed: Khan 2019 - F - - - - - - - 1 LOVD
+?/. - c.2570T>C r.(?) p.(Leu857Pro) Both (homozygous) - likely pathogenic g.94520684A>G g.94055128A>G Allele 1 c.5882G>A (p.Gly1961Glu)/c.2570T (p.Leu857Pro), Allele 2 c.5882G>A (p.Gly1961Glu)/c.2570T (p.Leu857Pro) - ABCA4_001069 homozygous PubMed: Khan 2019 - - Germline/De novo (untested) ? - - - - DNA ? - retrospective study retinal disease - PubMed: Khan 2019 - F - - - - - - - 1 LOVD
+?/. 16 c.2570T>C r.(2570u>c) p.(Leu857Pro) Parent #1 ACMG likely pathogenic g.94520684A>G g.94055128A>G - - ABCA4_001069 combination of variants not reported - - - Germline - - - - - DNA SEQ-NG - - STGD1 - - - - - Mexico - - - - - 1 Oscar Francisco Chacón Camacho
+?/. 16 c.2570T>C r.(?) p.(Leu857Pro) Unknown ACMG likely pathogenic g.94520684A>G g.94055128A>G - - ABCA4_001069 ACMG PS4, PM3, PP3_m; severity category severe Journal: Cornelis 2023 - - SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
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