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.

38 entries on 1 page. Showing entries 1 - 38.
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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     
?/. 19 c.2888del r.(?) p.(Asn1799Asp) Unknown - VUS g.94512507del g.94046951del c.2888delG - ABCA4_000155 - PubMed: Paloma 2001 - - Germline - - - - - DNA PCR, SSCA, SEQ - - STGD1 - PubMed: Rozet 1998 - ? ? Spain ? - - - - 1 Stéphanie Cornelis
+/. 19 c.2888del r.(?) p.(Gly963Alafs*14) Both (homozygous) - pathogenic g.94512507del g.94046951del 2888delG - ABCA4_000155 - PubMed: Valverde 2007 - - Germline yes - - - - DNA PCR, PE, SEQ, DHPLC - APEX CORD - PubMed: Valverde 2007 - ? ? Spain - - - - - 1 Stéphanie Cornelis
+/. 19 c.2888del r.(?) p.(Gly963Alafs*14) Both (homozygous) - pathogenic g.94512507del g.94046951del 2888delG - ABCA4_000155 - PubMed: Valverde 2007 - - Germline yes - - - - DNA PCR, PE, SEQ, DHPLC - APEX CORD - PubMed: Valverde 2007 - ? ? Spain - - - - - 1 Stéphanie Cornelis
+?/. 19 c.2888del r.(?) p.(Gly963Alafs*14) Unknown - likely pathogenic g.94512507del g.94046951del 2888delG - ABCA4_000155 - PubMed: Valverde 2007 - - Germline yes - - - - DNA PCR, PE, SEQ, DHPLC - APEX CORD - PubMed: Valverde 2007 - ? ? Spain - - - - - 1 Stéphanie Cornelis
+?/. 19 c.2888del r.(?) p.(Gly963Alafs*14) Unknown - likely pathogenic g.94512507del g.94046951del 2888delG - ABCA4_000155 - PubMed: Valverde 2007, PubMed: Riveiro-Alvarez 2013 - - Germline - - - - - DNA PCR, PE, SEQ, DHPLC - APEX ? - PubMed: Valverde 2007, PubMed: Riveiro-Alvarez 2013 - ? ? Spain - - - - - 1 Stéphanie Cornelis
+?/. 19 c.2888del r.(?) p.(Gly963Alafs*14) Unknown - likely pathogenic g.94512507del g.94046951del c.2888delG - ABCA4_000155 - PubMed: Riveiro-Alvarez 2013 - - Germline ? - - - - DNA PE, DHPLC, MCA, SEQ, MLPA, SEQ-NG - APEX CORD - PubMed: Riveiro-Alvarez 2013 - ? ? Spain ? - - - - 1 Stéphanie Cornelis
?/. 19 c.2888del r.(?) p.(Gly963Alafs*14) Unknown - VUS g.94512507del g.94046951del c.2888delG - ABCA4_000155 - PubMed: Riveiro-Alvarez 2013 - - Germline - - - - - DNA PE, DHPLC, MCA, SEQ, MLPA, SEQ-NG - APEX CORD - PubMed: Riveiro-Alvarez 2013 - ? ? Spain ? - - - - 1 Stéphanie Cornelis
+?/. 19 c.2888del r.(?) p.(Gly963Alafs*14) Unknown - likely pathogenic g.94512507del g.94046951del c.2888delG - ABCA4_000155 - PubMed: Riveiro-Alvarez 2013 - - Germline ? - - - - DNA PE, DHPLC, MCA, SEQ, MLPA, SEQ-NG - APEX STGD1 - PubMed: Riveiro-Alvarez 2013 - ? ? Spain ? - - - - 1 Stéphanie Cornelis
+?/. 19 c.2888del r.(?) p.(Gly963Alafs*14) Unknown - likely pathogenic g.94512507del g.94046951del c.2888delG - ABCA4_000155 - PubMed: Riveiro-Alvarez 2013 - - Germline ? - - - - DNA PE, DHPLC, MCA, SEQ, MLPA, SEQ-NG - APEX STGD1 - PubMed: Riveiro-Alvarez 2013 - ? ? Spain ? - - - - 1 Stéphanie Cornelis
+?/. 19 c.2888del r.(?) p.(Gly963Alafs*14) Unknown - likely pathogenic g.94512507del g.94046951del c.2888delG - ABCA4_000155 - PubMed: Riveiro-Alvarez 2013 - - Germline ? - - - - DNA PE, DHPLC, MCA, SEQ, MLPA, SEQ-NG - APEX STGD1 - PubMed: Riveiro-Alvarez 2013 - ? ? Spain ? - - - - 1 Stéphanie Cornelis
+?/. 19 c.2888del r.(?) p.(Gly963Alafs*14) Unknown - likely pathogenic g.94512507del g.94046951del c.2888delG - ABCA4_000155 - PubMed: Riveiro-Alvarez 2013 - - Germline ? - - - - DNA PE, DHPLC, MCA, SEQ, MLPA, SEQ-NG - APEX STGD1 - PubMed: Riveiro-Alvarez 2013 - ? ? Spain ? - - - - 1 Stéphanie Cornelis
+/. 19 c.2888del r.(?) p.(Gly963Alafs*14) Unknown - pathogenic g.94512507del g.94046951del c.2888delG - ABCA4_000155 - PubMed: Riveiro-Alvarez 2013 - - Germline ? - - - - DNA PE, DHPLC, MCA, SEQ, MLPA, SEQ-NG - APEX STGD1 - PubMed: Riveiro-Alvarez 2013 - ? ? Spain ? - - - - 1 Stéphanie Cornelis
+/. 19 c.2888del r.(2888del) p.(Gly963AlafsTer14) Parent #1 ACMG pathogenic (recessive) g.94512507del g.94046951del - - ABCA4_000155 - PubMed: Cornelis 2017, Journal: Cornelis 2017, Journal: Cornelis 2023 - - SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
+/. 19 c.2888del r.(?) p.(Gly963Alafs*14) Unknown - pathogenic (recessive) g.94512507del g.94046951del c.2888del - ABCA4_000155 no variant 2nd chromosome PubMed: Riveiro-Alvarez 2008 - - Unknown - - - - - DNA PE, SEQ - APEX retinal disease Unknown 113 PubMed: Riveiro-Alvarez 2008 - - ? Spain - - - - - 1 Stéphanie Cornelis
+/. 19 c.2888del r.(?) p.(Gly963Alafs*14) Unknown - pathogenic (recessive) g.94512507del g.94046951del c.2888del - ABCA4_000155 no variant 2nd chromosome PubMed: Riveiro-Alvarez 2008 - - Unknown - - - - - DNA PE, SEQ - APEX retinal disease Unknown 114 PubMed: Riveiro-Alvarez 2008 - - ? Spain - - - - - 1 Stéphanie Cornelis
+/. 19 c.2888del r.(?) p.(Gly963Alafs*14) Unknown - pathogenic (recessive) g.94512507del g.94046951del c.2888del - ABCA4_000155 no variant 2nd chromosome PubMed: Riveiro-Alvarez 2008 - - Unknown - - - - - DNA PE, SEQ - APEX retinal disease Unknown 115 PubMed: Riveiro-Alvarez 2008 - - ? Spain - - - - - 1 Stéphanie Cornelis
+/. 19 c.2888del r.(?) p.(Gly963Alafs*14) Unknown - pathogenic (recessive) g.94512507del g.94046951del c.2888del - ABCA4_000155 no variant 2nd chromosome PubMed: Riveiro-Alvarez 2008 - - Unknown - - - - - DNA PE, SEQ - APEX retinal disease Unknown 116 PubMed: Riveiro-Alvarez 2008 - - ? Spain - - - - - 1 Stéphanie Cornelis
+/. 19 c.2888del r.(?) p.(Gly963Alafs*14) Unknown - pathogenic (recessive) g.94512507del g.94046951del c.2888del - ABCA4_000155 no variant 2nd chromosome PubMed: Riveiro-Alvarez 2008 - - Unknown - - - - - DNA PE, SEQ - APEX retinal disease Unknown 117 PubMed: Riveiro-Alvarez 2008 - - ? Spain - - - - - 1 Stéphanie Cornelis
+/. 19 c.2888del r.(?) p.(Gly963Alafs*14) Unknown - pathogenic (recessive) g.94512507del g.94046951del c.2888del p.(Gly963Alafs*14) - ABCA4_000155 - PubMed: Del Pozo-Valero 2020 - - Germline - - - - - DNA SEQ-NG - - retinal disease MD-0556 PubMed: Del Pozo-Valero 2020 - - ? Spain - - - - - 1 Stéphanie Cornelis
+/. 19 c.2888del r.(?) p.(Gly963Alafs*14) Unknown - pathogenic (recessive) g.94512507del g.94046951del c.2888del p.(Gly963Alafs*14) - ABCA4_000155 - PubMed: Del Pozo-Valero 2020 - - Germline - - - - - DNA SEQ-NG - - retinal disease MD-0705 PubMed: Del Pozo-Valero 2020 - - ? Spain - - - - - 1 Stéphanie Cornelis
+/. 19 c.2888del r.(?) p.(Gly963Alafs*14) Unknown - pathogenic (recessive) g.94512507del g.94046951del c.2888del p.(Gly963Alafs*14) - ABCA4_000155 - PubMed: Del Pozo-Valero 2020 - - Germline - - - - - DNA SEQ-NG - - retinal disease MD-0751 PubMed: Del Pozo-Valero 2020 - - ? Spain - - - - - 1 Stéphanie Cornelis
+/. 19 c.2888del r.(?) p.(Gly963Alafs*14) Unknown - pathogenic (recessive) g.94512507del g.94046951del c.2888del p.(Gly963Alafs*14) - ABCA4_000155 - PubMed: Del Pozo-Valero 2020 - - Germline - - - - - DNA SEQ-NG - - retinal disease MD-0770 PubMed: Del Pozo-Valero 2020 - - ? Spain - - - - - 1 Stéphanie Cornelis
+/. 19 c.2888del r.(?) p.(Gly963Alafs*14) Unknown - pathogenic (recessive) g.94512507del g.94046951del c.2888del p.(Gly963Alafs*14) - ABCA4_000155 - PubMed: Del Pozo-Valero 2020 - - Germline - - - - - DNA SEQ-NG - - retinal disease MD-0797 PubMed: Del Pozo-Valero 2020 - - ? Spain - - - - - 1 Stéphanie Cornelis
+/. 19 c.2888del r.(?) p.(Gly963Alafs*14) Parent #1 - pathogenic (recessive) g.94512507del g.94046951del c.2888del p.(Gly693Alafs*14) - ABCA4_000155 - PubMed: Del Pozo-Valero 2020 - - Germline yes - - - - DNA SEQ-NG - - retinal disease MD-0846 PubMed: Del Pozo-Valero 2020 - - ? Spain - - - - - 1 Stéphanie Cornelis
+/. 19 c.2888del r.(?) p.(Gly963Alafs*14) Unknown - pathogenic (recessive) g.94512507del g.94046951del c.2888del p.(Gly693Alafs*14) - ABCA4_000155 - PubMed: Del Pozo-Valero 2020 - - Germline - - - - - DNA SEQ-NG - - retinal disease MD-0955 PubMed: Del Pozo-Valero 2020 - - ? Spain - - - - - 1 Stéphanie Cornelis
+/. 19 c.2888del r.(?) p.(Gly963Alafs*14) Unknown - pathogenic (recessive) g.94512507del g.94046951del c.2888del p.(Gly963Alafs*14) - ABCA4_000155 - PubMed: Del Pozo-Valero 2020 - - Germline - - - - - DNA SEQ-NG - - retinal disease MD-1120 PubMed: Del Pozo-Valero 2020 - - ? Spain - - - - - 1 Stéphanie Cornelis
+/. 19 c.2888del r.(?) p.(Gly963Alafs*14) Unknown - pathogenic (recessive) g.94512507del g.94046951del c.2888del p.(Gly963Alafs*14) - ABCA4_000155 - PubMed: Del Pozo-Valero 2020 - - Germline - - - - - DNA SEQ-NG - - retinal disease RP-1455 PubMed: Del Pozo-Valero 2020 - - ? Spain - - - - - 1 Stéphanie Cornelis
+/. 19 c.2888del r.(?) p.(Gly963Alafs*14) Parent #1 - pathogenic (recessive) g.94512507del g.94046951del c.2888del p.(Gly963Alafs*14) - ABCA4_000155 - PubMed: Del Pozo-Valero 2020 - - Germline yes - - - - DNA SEQ-NG - - retinal disease RP-2680 PubMed: Del Pozo-Valero 2020 - - ? Spain - - - - - 1 Stéphanie Cornelis
+/. 19 c.2888del r.(?) p.(Gly963Alafs*14) Unknown - pathogenic (recessive) g.94512507del g.94046951del m1: ABCA4 Ex.19 c.2888del p.(Gly963Alafs*14) - ABCA4_000155 - PubMed: Martin-Merida 2018 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease RP-1455 II:2 PubMed: Martin-Merida 2018 father of patient RP-1455 III:1 M no Spain - - - - - 1 Stéphanie Cornelis
+/. 19 c.2888del r.(?) p.(Gly963Alafs*14) Unknown - pathogenic (recessive) g.94512507del g.94046951del c.2888del/p.G963Afs*14 - ABCA4_000155 no segregation analysis done PubMed: Weisschuh 2020 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease 234 PubMed: Weisschuh 2020 - F ? Germany - - - - - 1 Stéphanie Cornelis
+/. 19 c.2888del r.(?) p.(Gly963Alafs*14) Parent #2 - pathogenic (recessive) g.94512507del g.94046951del c.2888del p.(Gly963Alafs*14) - ABCA4_000155 - PubMed: Del Pozo-Valero 2020 - - Germline yes - - - - DNA SEQ-NG - - retinal disease MD-0604 PubMed: Del Pozo-Valero 2020 - - ? Spain - - - - - 1 Stéphanie Cornelis
+/. 19 c.2888del r.(?) p.(Gly963Alafs*14) Unknown - pathogenic (recessive) g.94512507del g.94046951del c.2888del p.(Gly963Alafs*14) - ABCA4_000155 - PubMed: Del Pozo-Valero 2020 - - Germline - - - - - DNA SEQ-NG - - retinal disease MD-1350 PubMed: Del Pozo-Valero 2020 - - ? Spain - - - - - 1 Stéphanie Cornelis
+?/. 19 c.2888del r.(?) p.(Gly963AlafsTer14) Unknown - likely pathogenic g.94512507del g.94046951del c.2888del, p.Gly963Alafs*14 - ABCA4_000155 unsolved PubMed: Del Pozo-Valero - - Germline ? - - - - DNA SEQ-NG blood this cohort was screened with arraySNP (ASPER Ophthalmics), targeted gene panels, clinical/whole exome sequencing retinal disease RP-2680 PubMed: Del Pozo-Valero individual ID family_patient or only family number for probands with unknown pedigree ? - Spain - - - - - 1 LOVD
+/. 19 c.2888del r.(?) p.(Gly963Alafs*14) Unknown - pathogenic (recessive) g.94512505del - c.2888del - ABCA4_000155 - PubMed: Khan 2020 - - Unknown ? - - - - DNA MIPsm - smMIPs-based complete ABCA4 gene retinal disease 70810 PubMed: Khan 2020 - M - Argentina - - - - - 1 LOVD
+/. 19 c.2888del r.(?) p.(Gly963Alafs*14) Unknown - pathogenic (recessive) g.94512505del - c.2888del(;)5603A>T - ABCA4_000155 - PubMed: Khan 2020 - - Unknown ? - - - - DNA MIPsm - smMIPs-based complete ABCA4 gene retinal disease 70998 PubMed: Khan 2020 - F - Spain - - - - - 1 LOVD
+/. 19 c.2888del r.(?) p.(Gly963AlafsTer14) Parent #1 ACMG pathogenic (recessive) g.94512507del g.94046951del c.[2888del;5603A>T] - ABCA4_000155 - PubMed: Corradi 2023, Journal: Corradi 2023 - - Germline yes - - - - DNA MIPsm, SEQ-NG - - retinal disease Pat20 PubMed: Corradi 2023, Journal: Corradi 2023 - M - - - - - - - 1 Zelia Corradi
+/. - c.2888del r.(?) p.(Gly963AlafsTer14) Parent #1 ACMG pathogenic g.94512507del g.94046951del c.[2888del;5603A>T] - ABCA4_000155 case unsolved PubMed: Hitti-Malin 2024, Journal: Hitti-Malin 2024 - - Germline - - - - - DNA SEQ - smMIP-based 105 iMD/AMD genes macular dystrophy 075018 PubMed: Hitti-Malin 2024, Journal: Hitti-Malin 2024 - - - - - - - - - 1 Johan den Dunnen
+/. 19 c.2888del r.(?) p.(Gly963AlafsTer14) Parent #1 ACMG pathogenic g.94512507del g.94046951del - - ABCA4_000155 combination of variants not reported - - - Germline - - - - - DNA SEQ-NG - - STGD1 - - - - - Mexico - - - - - 1 Oscar Francisco Chacón Camacho
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