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.

37 entries on 1 page. Showing entries 1 - 37.
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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     
?/. 13 c.1933G>A r.(?) p.(Asp645Asn) Unknown - VUS g.94528137C>T g.94062581C>T - - ABCA4_000774 - PubMed: Alapati 2014 - - Germline - ExAC 1, 121050, 0, 0.000008261 - - - DNA PE, PCR, SEQ - APEX CORD - PubMed: Alapati 2014 - ? ? United States American - - - - 1 Stéphanie Cornelis
+?/. 13 c.1933G>A r.(?) p.(Asp645Asn) Unknown - likely pathogenic g.94528137C>T g.94062581C>T D645N - ABCA4_000774 - PubMed: Lewis 1999 - - Germline ? ExAC 1, 121050, 0, 0.000008261 - - - DNA SSCA, HD, SEQ - - STGD1 - PubMed: Lewis 1999 4-generation family, 3 affected ? ? United States white - - - - 1 Stéphanie Cornelis
?/. 13 c.1933G>A r.(?) p.(Asp645Asn) Unknown - VUS g.94528137C>T g.94062581C>T D645N - ABCA4_000774 - PubMed: Jaakson 2003 - - Germline - ExAC 1, 121050, 0, 0.000008261 - - - DNA PCR, PE, SEQ - APEX ? - PubMed: Jaakson 2003 Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome, possibly even in a previous study also present in the LOVD. ? ? - USA, Netherlands, Italy or Slovenia - - - - 1 Stéphanie Cornelis
+/. 13 c.1933G>A r.(?) p.(Asp645Asn) Unknown - pathogenic g.94528137C>T g.94062581C>T Asp645Asn GAT>AAT - ABCA4_000774 - PubMed: Schindler 2010 - - Germline - 1, 121050, 0, 0.000008261 - - - DNA SNPlex, TaqMan, SSCA, SEQ - - CORD - PubMed: Schindler 2010 - ? ? United States Iowa - - - - 1 Stéphanie Cornelis
+/. 13 c.1933G>A r.(1933g>a) p.(Asp645Asn) Parent #1 ACMG pathogenic (recessive) g.94528137C>T g.94062581C>T - - ABCA4_000774 variant significantly enriched in >3000 likely Caucasian STGD1 patients compared to the non-Finnish ExAC population PubMed: Cornelis 2017, Journal: Cornelis 2017, Journal: Cornelis 2023 - - SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
?/. 13 c.1933G>A r.(?) p.(Asp645Asn) Parent #2 - VUS g.94528137C>T g.94062581C>T - - ABCA4_000774 - PubMed: Hu 2019 - - Germline - - - - - DNA SEQ-NG peripheral blood gene panel STGD1 P39 PubMed: Hu 2019 - M no China Asian - - no none 1 Fangyuan Hu
?/. 13 c.1933G>A r.(?) p.(Asp645Asn) Parent #1 - VUS g.94528137C>T g.94062581C>T - - ABCA4_000774 - PubMed: Hu 2019 - - Germline - - - - - DNA SEQ-NG - gene panel STGD1 P56 PubMed: Hu 2019 - M no China Asian - - no none 1 Fangyuan Hu
?/. 13 c.1933G>A r.(?) p.(Asp645Asn) Parent #1 - VUS g.94528137C>T g.94062581C>T - - ABCA4_000774 - PubMed: Hu 2019 - - Germline - - - - - DNA SEQ-NG peripheral blood gene panel STGD1 P63 PubMed: Hu 2019 - F no China Asian - - no none 1 Fangyuan Hu
?/. - c.1933G>A r.(?) p.(Asp645Asn) Parent #2 ACMG VUS g.94528137C>T - - - ABCA4_000774 - PubMed: Kim 2019 - - Germline - 1/86 cases - - - DNA SEQ, SEQ-NG - 204 gene panel retinal disease - PubMed: Kim 2019 - - - Korea - - - - - 1 Global Variome, with Curator vacancy
+?/. - c.1933G>A r.(?) p.(Asp645Asn) Parent #1 - likely pathogenic g.94528137C>T g.94062581C>T - - ABCA4_000774 - PubMed: Stone 2017 - - Germline - - - - - DNA SEQ-NG - - retinal disease 799 PubMed: Stone 2017 1 affected F - (United States) - - - - - 1 LOVD
?/. 13 c.1933G>A r.(?) p.(Asp645Asn) Parent #1 - VUS g.94528137C>T g.94062581C>T p.D645N - ABCA4_000774 - PubMed: Jiang 2016 - - Unknown yes - - - - DNA PCR, SEQ - - retinal disease 10183 PubMed: Jiang 2016 - - ? China - - - - - 1 Stéphanie Cornelis
?/. 13 c.1933G>A r.(?) p.(Asp645Asn) Parent #1 - VUS g.94528137C>T g.94062581C>T c.1933G>A Asp645Asn GAT>AAT - ABCA4_000774 - PubMed: Stone 2017 - - Unknown yes - - - - DNA SEQ-NG-I - - retinal disease 799 PubMed: Stone 2017 - F ? - - - - - - 1 Stéphanie Cornelis
?/. 13 c.1933G>A r.(?) p.(Asp645Asn) Unknown - VUS g.94528137C>T g.94062581C>T c.1933G>A p.Asp645Asn - ABCA4_000774 - PubMed: Sung 2019 - - Unknown - - - - - DNA SEQ-NG - WES retinal disease P022 PubMed: Sung 2019 - - ? Korea, South (Republic) Korea - - - - 1 Stéphanie Cornelis
?/. 13 c.1933G>A r.(?) p.(Asp645Asn) Unknown - VUS g.94528137C>T g.94062581C>T c.1933G>A - ABCA4_000774 - PubMed: Hu 2019 - - Unknown - - - - - DNA SEQ-NG - - retinal disease P56 PubMed: Hu 2019 - M ? China China - - - - 1 Stéphanie Cornelis
?/. 13 c.1933G>A r.(?) p.(Asp645Asn) Unknown - VUS g.94528137C>T g.94062581C>T c.1933G>A - ABCA4_000774 - PubMed: Hu 2019 - - Unknown - - - - - DNA SEQ-NG - - retinal disease P63 PubMed: Hu 2019 - F ? China China - - - - 1 Stéphanie Cornelis
?/. 13 c.1933G>A r.(?) p.(Asp645Asn) Unknown - VUS g.94528137C>T g.94062581C>T c.1933G>A p.Asp645Asn - ABCA4_000774 no segregation analysis done PubMed: Hull 2020 - - Unknown - - - - - DNA PE, SEQ-NG - APEX or SEQ-NG retinal disease Unknown 1125 PubMed: Hull 2020 - - ? New Zealand white - - - - 1 Stéphanie Cornelis
?/. 13 c.1933G>A r.(?) p.(Asp645Asn) Unknown - VUS g.94528137C>T g.94062581C>T c.1933G>A, p.Asp645Asn Heterozygous - ABCA4_000774 no variant 2nd chromosome PubMed: Goetz 2020 - - Unknown - 1, 121050, 0, 0.000008261 - - - DNA SEQ - - retinal disease 1824-2419 PubMed: Goetz 2020 - - ? - - - - - - 1 Stéphanie Cornelis
?/. 13 c.1933G>A r.(?) p.(Asp645Asn) Both (homozygous) - VUS g.94528137C>T g.94062581C>T c.[1622T>C;1933G>A;3113C>T] (p.[Leu541Pro;Asp645Asn;Ala1038Val]) - ABCA4_000774 no segregation analysis done PubMed: Zernant 2017 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease 3423 PubMed: Zernant 2017 - - ? United States - - - - - 1 Stéphanie Cornelis
?/. 13 c.1933G>A r.(?) p.(Asp645Asn) Both (homozygous) - VUS g.94528137C>T g.94062581C>T c.1933G>A (p.Asp645Asn) - ABCA4_000774 no segregation analysis done PubMed: Zernant 2017 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease 3423 PubMed: Zernant 2017 - - ? United States - - - - - 1 Stéphanie Cornelis
?/. 13 c.1933G>A r.(?) p.(Asp645Asn) Unknown - VUS g.94528137C>T g.94062581C>T c.1933G>A p.Asp645Asn - ABCA4_000774 - PubMed: Smaragda 2018 - - Unknown - - - - - DNA MLPA, PE, SEQ - APEX retinal disease ABCA4-52A PubMed: Smaragda 2018 - F ? Greece - - - - - 1 Stéphanie Cornelis
?/. 13 c.1933G>A r.(?) p.(Asp645Asn) Unknown - VUS g.94528137C>T g.94062581C>T c.1933G>A p.Asp645Asn - ABCA4_000774 - PubMed: Sung 2019 - - Unknown - - - - - DNA SEQ-NG - WES retinal disease P001 PubMed: Sung 2019 - - ? Korea, South (Republic) Korea - - - - 1 Stéphanie Cornelis
?/. 13 c.1933G>A r.(?) p.(Asp645Asn) Unknown - VUS g.94528137C>T g.94062581C>T c.1933G>A p.D654N - ABCA4_000774 - PubMed: Kim 2019 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease Unknown 641 PubMed: Kim 2019 - - ? Korea Korea - - - - 1 Stéphanie Cornelis
?/. 13 c.1933G>A r.(?) p.(Asp645Asn) Unknown - VUS g.94528137C>T g.94062581C>T c.1933G>A - ABCA4_000774 - PubMed: Hu 2019 - - Unknown - - - - - DNA SEQ-NG - - retinal disease P39 PubMed: Hu 2019 - M ? China China - - - - 1 Stéphanie Cornelis
?/. 13 c.1933G>A r.(?) p.(Asp645Asn) Unknown - VUS g.94528137C>T g.94062581C>T c.1933G>A - ABCA4_000774 - PubMed: Joo 2019 - - Unknown - - - - - DNA SEQ-NG-I - gene panel, all exons ABCA4 retinal disease F1 H27 PubMed: Joo 2019 - F ? Korea Korea - - - - 1 Stéphanie Cornelis
?/. 13 c.1933G>A r.(?) p.(Asp645Asn) Unknown - VUS g.94528137C>T g.94062581C>T c.1933G>A p.(Asp645Asn) - ABCA4_000774 - PubMed: Del Pozo-Valero 2020 - - Germline - - - - - DNA SEQ-NG - - retinal disease MD-0611 PubMed: Del Pozo-Valero 2020 - - ? Spain - - - - - 1 Stéphanie Cornelis
?/. 13 c.1933G>A r.(?) p.(Asp645Asn) Unknown - VUS g.94528137C>T g.94062581C>T c.1933G>A, p.Asp645Asn Heterozygous - ABCA4_000774 - PubMed: Goetz 2020 - - Unknown - 1, 121050, 0, 0.000008261 - - - DNA SEQ - - retinal disease 4097-4987 PubMed: Goetz 2020 - - ? - - - - - - 1 Stéphanie Cornelis
+?/. - c.1933G>A r.(?) p.(Asp645Asn) Unknown - VUS g.94528137C>T - - - ABCA4_000774 - - - - Germline/De novo (untested) - - - - - DNA SEQ-NG-I - - CORD IR_SB_0002 - - M - Korea, South (Republic) - - - - - 1 Jinu Han
?/. - c.1933G>A r.(?) p.(Asp645Asn) Unknown ACMG VUS g.94528137C>T g.94062581C>T ABCA4 c.1933G>A, p.D654N - ABCA4_000774 - PubMed: Kim 2019 - - Germline ? - - - - DNA SEQ-NG-I blood 204 genes associated with inherited retinal disorders, see paper retinal disease ? PubMed: Kim 2019 - ? - Korea, South (Republic) - - - - - 1 LOVD
?/. - c.1933G>A r.(?) p.(Asp645Asn) Unknown ACMG VUS g.94528137C>T g.94062581C>T ABCA4 c.G1933A, p.D645N - ABCA4_000774 marked as causative, heterozygous PubMed: Ma 2021 - - Unknown ? - - - - DNA SEQ-NG-I, SEQ - whole exome sequencing retinal disease 93 PubMed: Ma 2021 - ? - Korea - - - - - 1 LOVD
+/. - c.1933G>A r.(?) p.(Asp645Asn) Unknown ACMG pathogenic g.94528137C>T g.94062581C>T ABCA4 c.G1933A, p.D645N - ABCA4_000774 marked as causative, heterozygous PubMed: Ma 2021 - - Unknown ? - - - - DNA SEQ-NG-I, SEQ - whole exome sequencing retinal disease 96 PubMed: Ma 2021 - ? - Korea - - - - - 1 LOVD
+?/. 13 c.1933G>A r.(?) p.(Asp645Asn) Unknown - likely pathogenic (recessive) g.94528137C>T - c.1933G>A - ABCA4_000774 - PubMed: Liu-2020 - - Germline - - - - - DNA SEQ-NG - WES retinal disease - PubMed: Liu-2020 - F - - - - - - - 1 LOVD
+?/. 13 c.1933G>A r.(?) p.(Asp645Asn) Unknown - likely pathogenic (recessive) g.94528137C>T - c.1933G>A - ABCA4_000774 - PubMed: Liu-2020 - - Germline - - - - - DNA SEQ-NG - hereditary eye disease enrichment panel (HEDEP) retinal disease - PubMed: Liu-2020 - F - - - - - - - 1 LOVD
+?/. 13 c.1933G>A r.(?) p.(Asp645Asn) Unknown - likely pathogenic (recessive) g.94528137C>T - c.1933G>A - ABCA4_000774 - PubMed: Liu-2020 - - Germline - - - - - DNA SEQ-NG - hereditary eye disease enrichment panel (HEDEP) retinal disease - PubMed: Liu-2020 - F - - - - - - - 1 LOVD
+?/. - c.1933G>A r.(?) p.(Asp645Asn) Parent #1 - likely pathogenic (recessive) g.94528137C>T g.94062581C>T [1933G>A;6119G>A] - ABCA4_000774 no variant 2nd chromosome PubMed: Tian 2024 - - Germline - - - - - DNA SEQ - - retinal disease - PubMed: Tian 2024 - M - China - - - - - 1 Lu Tian
+?/. - c.1933G>A r.(?) p.(Asp645Asn) Parent #1 - likely pathogenic (recessive) g.94528137C>T g.94062581C>T [1933G>A;5501T>C] - ABCA4_000774 - PubMed: Tian 2024 - - Germline yes - - - - DNA SEQ - - retinal disease - PubMed: Tian 2024 - F - China - - - - - 1 Lu Tian
+/. - c.1933G>A r.(?) p.(Asp645Asn) Parent #1 - pathogenic (recessive) g.94528137C>T g.94062581C>T - - ABCA4_000774 - PubMed: Tian 2024 - - Germline yes - - - - DNA SEQ - - retinal disease - PubMed: Tian 2024 - F - China - - - - - 1 Lu Tian
+/. - c.1933G>A r.(?) p.(Asp645Asn) Unknown - pathogenic (recessive) g.94528137C>T g.94062581C>T - - ABCA4_000774 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Unknown - - - - - DNA DHPLC, SEQ - - retinal disease L-0671 PubMed: Cornelis 2024, Journal: Cornelis 2024 - M - France - - - - - 1 Frans Cremers
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