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.

26 entries on 1 page. Showing entries 1 - 26.
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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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Population     

Age at death     

VIP     

Data_av     

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Owner     
?/. 9 c.1140T>A r.(?) p.(Asn380Lys) Unknown - VUS g.94544977A>T g.94079421A>T c.1140T>A - ABCA4_000332 - PubMed: Boulanger-Scemama 2015, PubMed: Boulanger-Scemama 2019 - - Germline - ExAC 60, 121404, 0, 0.0004942 - - - DNA SEQ-NG, PCR, SEQ - - ? - PubMed: Audo 2010 - ? - France ? - - - - 1 Stéphanie Cornelis
?/. 9 c.1140T>A r.(?) p.(Asn380Lys) Unknown - VUS g.94544977A>T g.94079421A>T 1140T > A - ABCA4_000332 - PubMed: Webster 2001 - - Germline - ExAC 60, 121404, 0, 0.0004942 - - - 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
?/. 9 c.1140T>A r.(?) p.(Asn380Lys) Parent #1 - VUS g.94544977A>T g.94079421A>T c.[1140T>A; 5395A>G] - ABCA4_000332 - 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
?/. 9 c.1140T>A r.(1140u>a) p.(Asn380Lys) Parent #1 ACMG VUS g.94544977A>T g.94079421A>T - - ABCA4_000332 variant frequency lower in a group of >3000 likely Caucasian STGD1 patients than in the ExAC non-Finnish population PubMed: Cornelis 2017, Journal: Cornelis 2017, Journal: Cornelis 2023 - - SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1140T>A r.(?) p.(Asn380Lys) Unknown - likely benign g.94544977A>T g.94079421A>T - - ABCA4_000332 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1140T>A r.(?) p.(Asn380Lys) Parent #1 - VUS g.94544977A>T g.94079421A>T - - ABCA4_000332 heterozygous variant only, does not fit phenotype PubMed: Arno 2017 - - Germline - - - - - DNA, RNA RT-PCR, SEQ, SEQ-NG - WES retinal disease FamGC17880Pat3 PubMed: Arno 2017 3-generation family, 1 affeted, unaffected heterozygous carrier parents/relatives F yes - - - - - - 1 Johan den Dunnen
?/. - c.1140T>A r.(?) p.(Asn380Lys) Unknown - VUS g.94544977A>T g.94079421A>T - - ABCA4_000332 - PubMed: Bryant 2018 - rs61748549 Germline - - - - - DNA SEQ-NG - WES retinal disease JB42 PubMed: Bryant 2018 - - - United States - - - - - 1 LOVD
+?/. - c.1140T>A r.(?) p.(Asn380Lys) Unknown - likely pathogenic g.94544977A>T g.94079421A>T - - ABCA4_000332 - PubMed: Ellingford 2016 - - Germline - - - - - DNA SEQ - 105-gene panel retinal disease 12008814 PubMed: Ellingford 2016 patient - - - - - - - - 1 LOVD
+?/. - c.1140T>A r.(?) p.(Asn380Lys) Parent #1 - likely pathogenic g.94544977A>T g.94079421A>T - - ABCA4_000332 - PubMed: Patel 2016 - - Germline - - - - - DNA SEQ-NG - gene panel retinal disease 11DG2106 PubMed: Patel 2016 - - - Saudi Arabia - - - - - 1 LOVD
?/. 9 c.1140T>A r.(?) p.(Asn380Lys) Unknown - VUS g.94544977A>T g.94079421A>T Asn380Lys - ABCA4_000332 no variant 2nd chromosome PubMed: Riveiro-Alvarez 2008 - - Unknown - - - - - DNA PE, SEQ - APEX retinal disease Unknown 109 PubMed: Riveiro-Alvarez 2008 - - ? Spain - - - - - 1 Stéphanie Cornelis
?/. 9 c.1140T>A r.(?) p.(Asn380Lys) Unknown - VUS g.94544977A>T g.94079421A>T c.1140T>A p.Asn380Lys - ABCA4_000332 no variant 2nd chromosome PubMed: Smaragda 2018 - - Unknown - - - - - DNA MLPA, PE, SEQ - APEX retinal disease E1 PubMed: Smaragda 2018 - M ? Greece - - - - - 1 Stéphanie Cornelis
?/. 9 c.1140T>A r.(?) p.(Asn380Lys) Both (homozygous) - VUS g.94544977A>T g.94079421A>T c.[1140T>A];[1140T>A] p.[N380K];[N380K] - ABCA4_000332 - PubMed: Habibi 2020 - - Unknown - - - - - DNA SEQ-NG - WES retinal disease F13 II.2 PubMed: Habibi 2020 - F yes Tunisia - - - - - 1 Stéphanie Cornelis
?/. 9 c.1140T>A r.(?) p.(Asn380Lys) Unknown - VUS g.94544977A>T g.94079421A>T NM_000350.2:c.1140T>A; p.Asn380Lys - ABCA4_000332 - PubMed: Patel 2016 - - Unknown - - - - - DNA SEQ-NG - next-generation multiplexing assay Vision Panel retinal disease 11DG2106 PubMed: Patel 2016 - - ? Saudi Arabia - - - - - 1 Stéphanie Cornelis
?/. 9 c.1140T>A r.(?) p.(Asn380Lys) Unknown - VUS g.94544977A>T g.94079421A>T c.T1140A:p.N380K - ABCA4_000332 no variant 2nd chromosome PubMed: Abouelhoda 2016 - - Unknown - - - - - DNA SEQ-NG - WES retinal disease Unknown 1157 PubMed: Abouelhoda 2016 mutations were not reported per patient. It is unknown if they were found bi-allelicly or mono-allecly - ? Saudi Arabia - - - - - 1 Stéphanie Cornelis
?/. 9 c.1140T>A r.(?) p.(Asn380Lys) Unknown - VUS g.94544977A>T g.94079421A>T c.1140T>A p.(Asn380Lys) - ABCA4_000332 no variant 2nd chromosome PubMed: Hanany 2018 - - Unknown - - - - - DNA SEQ-NG - - retinal disease Unknown 1213 PubMed: Hanany 2018 mutations were not reported per patient, so a second mutation might be present - ? Israel - - - - - 1 Stéphanie Cornelis
?/. 9 c.1140T>A r.(?) p.(Asn380Lys) Unknown - VUS g.94544977A>T g.94079421A>T c.1140T>A p.Asn380Lys het - ABCA4_000332 no variant 2nd chromosome Prevention Genetics - - Unknown - - - - - DNA SEQ-NG - STGDMD panel retinal disease 2017-194-128 Prevention Genetics - - ? - - - - - - 1 Stéphanie Cornelis
?/. 9 c.1140T>A r.(?) p.(Asn380Lys) Unknown - VUS g.94544977A>T g.94079421A>T c.1140 - ABCA4_000332 - PubMed: Cho 2020 - - Unknown - - - - - DNA SEQ-NG, SEQ - - retinal disease 24 PubMed: Cho 2020 - M ? United States - - - - - 1 Stéphanie Cornelis
?/. 9 c.1140T>A r.(?) p.(Asn380Lys) Unknown - VUS g.94544977A>T g.94079421A>T ABCA4 c.1140T>A p.(Asn380Lys) het - ABCA4_000332 - PubMed: Ellingford 2016 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease 12008814 PubMed: Ellingford 2016 - - ? - - - - - - 1 Stéphanie Cornelis
?/. 9 c.1140T>A r.(?) p.(Asn380Lys) Unknown - VUS g.94544977A>T g.94079421A>T c.1140T>A p.Asn380Lys Het - ABCA4_000332 - Prevention Genetics - - Unknown - - - - - DNA SEQ-NG - CRD panel retinal disease 2015-124-026 Prevention Genetics - - ? - - - - - - 1 Stéphanie Cornelis
?/. 9 c.1140T>A r.(?) p.(Asn380Lys) Unknown - VUS g.94544977A>T g.94079421A>T c.1140T>A p.Asn380Lys het - ABCA4_000332 - Prevention Genetics - - Unknown - - - - - DNA SEQ-NG - STGDMD panel retinal disease 2017-055-067 Prevention Genetics - - ? - - - - - - 1 Stéphanie Cornelis
?/. 9 c.1140T>A r.(?) p.(Asn380Lys) Unknown - VUS g.94544977A>T g.94079421A>T c.1140T>A, p.(Asn380Lys) Heterozygous - ABCA4_000332 - PubMed: Goetz 2020 - - Unknown - 60, 121404, 0, 0.0004942 - - - DNA SEQ - - retinal disease 4342-6177 PubMed: Goetz 2020 - - ? - - - - - - 1 Stéphanie Cornelis
+/. 9 c.1140T>A r.(?) p.(Asn380Lys) Unknown - pathogenic g.94544977A>T - c.1140T>A - ABCA4_000332 - PubMed: Eisenberger-2013 - rs61748549 Germline - - - - - DNA SEQ-NG-I, SEQ-NG-R, SEQ blood - retinal disease - PubMed: Eisenberger-2013 - F no Saudi Arabia - - - - - 1 LOVD
?/. 9 c.1140T>A r.(?) p.(Asn380Lys) Parent #1 - VUS g.94544977A>T - c.[1140T>A;5882G>A] - ABCA4_000332 unknown variant 2nd chromosome PubMed: Khan 2020 - - Unknown ? - - - - DNA MIPsm - smMIPs-based complete ABCA4 gene retinal disease 70935 PubMed: Khan 2020 - M - Australia - - - - - 1 LOVD
?/. 9 c.1140T>A r.(?) p.(Asn380Lys) Parent #1 ACMG VUS g.94544977A>T g.94079421A>T - - ABCA4_000332 - PubMed: Corradi 2023, Journal: Corradi 2023 - - Germline - - - - - DNA MIPsm, SEQ-NG - - retinal disease Pat69 PubMed: Corradi 2023, Journal: Corradi 2023 - F - - - - - - - 1 Zelia Corradi
?/. - c.1140T>A r.(?) p.(Asn380Lys) Unknown - VUS g.94544977A>T g.94079421A>T - - ABCA4_000332 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Germline/De novo (untested) - - - - - DNA SEQ - - retinal disease MEH-mild-82 PubMed: Cornelis 2024, Journal: Cornelis 2024 - F - United Kingdom (Great Britain) - - - - - 1 Stéphanie Cornelis
?/. - c.1140T>A r.(?) p.(Asn380Lys) Unknown - VUS g.94544977A>T g.94079421A>T - - ABCA4_000332 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Germline/De novo (untested) - - - - - DNA SEQ - - retinal disease MEH-nonmild-142 PubMed: Cornelis 2024, Journal: Cornelis 2024 - M - United Kingdom (Great Britain) - - - - - 1 Stéphanie Cornelis
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