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.

27 entries on 1 page. Showing entries 1 - 27.
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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     
+?/. 14 c.1958G>A r.(?) p.(Arg653His) Parent #2 - likely pathogenic g.94526295C>T g.94060739C>T - - ABCA4_000114 - PubMed: Bauwens 2014 - - Germline - - - - - DNA SEQ-NG-I - - STGD - PubMed: Bauwens 2014 - F no Belgium Belgian - - - - 1 Miriam Bauwens
+?/. 14 c.1958G>A r.(?) p.(Arg653His) Unknown - likely pathogenic g.94526295C>T g.94060739C>T c.1958 G>A - ABCA4_000114 - PubMed: Zaneveld 2015 - - Germline - 1, 98698, 0, 0.00001013 - - - DNA SEQ-NG-I, SEQ, arrayCGH - - STGD1 - PubMed: Zaneveld 2015 - ? ? China Chinese - - - - 1 Stéphanie Cornelis
+/. 14 c.1958G>A r.(1958g>a) p.(Arg653His) Parent #1 ACMG pathogenic (recessive) g.94526295C>T g.94060739C>T - - ABCA4_000114 - PubMed: Cornelis 2017, Journal: Cornelis 2017, Journal: Cornelis 2023 - - SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 14 c.1958G>A r.(?) p.(Arg653His) Parent #1 - likely pathogenic g.94526295C>T g.94060739C>T - - ABCA4_000114 - PubMed: Khan 2019 - - Unknown no - - - - DNA SEQ, MIPsm - - STGD1 ? PubMed: Khan 2019 - - - France - - - - - 1 Stéphanie Cornelis
+/. - c.1958G>A r.(?) p.(Arg653His) Unknown ACMG pathogenic g.94526295C>T - - - ABCA4_000114 - Zixi Sun 2020, submitted - - Germline/De novo (untested) - - - - - DNA SEQ-NG - gene panel STGD 8465 Zixi Sun 2020, submitted - F - China - - - - - 1 Zixi Sun
+?/. 14 c.1958G>A r.(?) p.(Arg653His) Unknown - likely pathogenic (recessive) g.94526295C>T g.94060739C>T p.R653H - ABCA4_000114 no segregation analysis done PubMed: Jiang 2016 - - Unknown - - - - - DNA PCR, SEQ - - retinal disease 19104 PubMed: Jiang 2016 - - ? China - - - - - 1 Stéphanie Cornelis
+?/. 14 c.1958G>A r.(?) p.(Arg653His) Unknown - likely pathogenic (recessive) g.94526295C>T g.94060739C>T c.1958G>A p.Arg653His - ABCA4_000114 - PubMed: Sung 2019 - - Unknown - - - - - DNA SEQ-NG - WES retinal disease P021 PubMed: Sung 2019 - - ? Korea, South (Republic) Korea - - - - 1 Stéphanie Cornelis
+?/. 14 c.1958G>A r.(?) p.(Arg653His) Both (homozygous) - likely pathogenic (recessive) g.94526295C>T g.94060739C>T Arg653His - ABCA4_000114 - PubMed: Piccardi 2019 - - Unknown - - - - - DNA SSCA, SEQ - SSCP coding region of ABCA4 retinal disease 8. PubMed: Piccardi 2019 likely sibling of patient 9 M ? Italy - - - - - 1 Stéphanie Cornelis
+?/. 14 c.1958G>A r.(?) p.(Arg653His) Both (homozygous) - likely pathogenic (recessive) g.94526295C>T g.94060739C>T Arg653His - ABCA4_000114 - PubMed: Piccardi 2019 - - Unknown - - - - - DNA SSCA, SEQ - SSCP coding region of ABCA4 retinal disease 9. PubMed: Piccardi 2019 likely sibling of patient 8 M ? Italy - - - - - 1 Stéphanie Cornelis
+?/. 14 c.1958G>A r.(?) p.(Arg653His) Unknown - likely pathogenic (recessive) g.94526295C>T g.94060739C>T c.1958G>A, p.Arg653His Heterozygous - ABCA4_000114 - PubMed: Goetz 2020 - - Unknown - 1, 98698, 0, 0.00001013 - - - DNA SEQ-NG-I - solid state SBS retinal disease 4536-5510 PubMed: Goetz 2020 - - ? - - - - - - 1 Stéphanie Cornelis
+?/. 14 c.1958G>A r.(?) p.(Arg653His) Unknown - likely pathogenic (recessive) g.94526295C>T g.94060739C>T c.1958G>A, p.Arg653His Heterozygous - ABCA4_000114 - PubMed: Goetz 2020 - - Unknown - 1, 98698, 0, 0.00001013 - - - DNA SEQ-NG-I - solid state SBS retinal disease 4634-5666 PubMed: Goetz 2020 - - ? - - - - - - 1 Stéphanie Cornelis
+?/. 14 c.1958G>A r.(?) p.(Arg653His) Unknown - likely pathogenic (recessive) g.94526295C>T g.94060739C>T c.1958G>A p.(Arg653His) - ABCA4_000114 - PubMed: Sun 2020 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease 8465 PubMed: Sun 2020 - M ? China China - - - - 1 Stéphanie Cornelis
?/. - c.1958G>A r.(?) p.(Arg653His) Unknown ACMG VUS g.94526295C>T g.94060739C>T ABCA4 c.G1958A, p.R653H - ABCA4_000114 marked as causative, heterozygous PubMed: Ma 2021 - - Unknown ? - - - - DNA SEQ-NG-I, SEQ - whole exome sequencing retinal disease 43 PubMed: Ma 2021 - ? - Korea - - - - - 1 LOVD
+?/. 14 c.1958G>A r.(?) p.(Arg653His) Unknown - likely pathogenic (recessive) g.94526295C>T - c.1958G>A - ABCA4_000114 - PubMed: Liu-2020 - - Germline - - - - - DNA SEQ-NG - hereditary eye disease enrichment panel (HEDEP) retinal disease - PubMed: Liu-2020 - F - - - - - - - 1 LOVD
+/. - c.1958G>A r.(?) p.(Arg653His) Parent #1 - pathogenic (recessive) g.94526295C>T g.94060739C>T - - ABCA4_000114 - PubMed: Tian 2024 - - Germline yes - - - - DNA SEQ - - retinal disease - PubMed: Tian 2024 - M - China - - - - - 1 Lu Tian
+/. - c.1958G>A r.(?) p.(Arg653His) Parent #1 - pathogenic (recessive) g.94526295C>T g.94060739C>T - - ABCA4_000114 - PubMed: Tian 2024 - - Germline yes - - - - DNA SEQ - - retinal disease - PubMed: Tian 2024 - F - China - - - - - 1 Lu Tian
+/. - c.1958G>A r.(?) p.(Arg653His) Parent #1 - pathogenic (recessive) g.94526295C>T g.94060739C>T - - ABCA4_000114 - PubMed: Tian 2024 - - Germline yes - - - - DNA SEQ - - retinal disease - PubMed: Tian 2024 - F - China - - - - - 1 Lu Tian
+/. - c.1958G>A r.(?) p.(Arg653His) Parent #2 - pathogenic (recessive) g.94526295C>T g.94060739C>T - - ABCA4_000114 - PubMed: Tian 2024 - - Germline yes - - - - DNA SEQ - - retinal disease - PubMed: Tian 2024 - M - China - - - - - 1 Lu Tian
+?/. 14 c.1958G>A r.(?) p.(Arg653His) Unknown - likely pathogenic (recessive) g.94526295C>T - c.1958G>A - ABCA4_000114 - PubMed: Khan 2020 - - Unknown - - - - - DNA MIPsm - smMIPs-based complete ABCA4 gene retinal disease 70840 PubMed: Khan 2020 - M - New Zealand - - - - - 1 LOVD
+?/. 14 c.1958G>A r.(?) p.(Arg653His) Unknown - likely pathogenic (recessive) g.94526295C>T - c.1958G>A - ABCA4_000114 - PubMed: Khan 2020 - - Unknown - - - - - DNA MIPsm - smMIPs-based complete ABCA4 gene retinal disease 70929 PubMed: Khan 2020 - M - Australia - - - - - 1 LOVD
+?/. 14 c.1958G>A r.(?) p.(Arg653His) Unknown - likely pathogenic (recessive) g.94526295C>T - c.1958G>A - ABCA4_000114 - PubMed: Khan 2020 - - Unknown ? - - - - DNA MIPsm - smMIPs-based complete ABCA4 gene retinal disease 67235 PubMed: Khan 2019PubMed: Khan 2020 - F - France - - - - - 1 LOVD
+/. 14 c.1958G>A r.(?) p.(Arg653His) Maternal (confirmed) - likely pathogenic (recessive) g.94526295C>T g.94060739C>T - - ABCA4_000114 - PubMed: Rodríguez-Hidalgo 2023, Journal: Rodríguez-Hidalgo 2023 ClinVar-417982 - Germline yes - - - - DNA SEQ-NG - - STGD1 FamBPatII1 PubMed: Rodríguez-Hidalgo 2023, Journal: Rodríguez-Hidalgo 2023 2-generation family, 1 affected, unaffected heterozygous father/brother F no Spain - - - - - 1 M. Rodríguez-Hidalgo
+/. 14 c.1958G>A r.(?) p.(Arg653His) Parent #1 ACMG pathogenic (recessive) g.94526295C>T g.94060739C>T - - ABCA4_000114 - PubMed: Corradi 2023, Journal: Corradi 2023 - - Germline - - - - - DNA MIPsm, SEQ-NG - - retinal disease Pat18 PubMed: Corradi 2023, Journal: Corradi 2023 - F - - - - - - - 1 Zelia Corradi
+/. - c.1958G>A r.(?) p.(Arg653His) Unknown - pathogenic (recessive) g.94526295C>T g.94060739C>T - - ABCA4_000114 no variant 2nd chromosome PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Unknown - - - - - DNA SEQ-NG - - retinal disease L-0238 PubMed: Cornelis 2024, Journal: Cornelis 2024 - M - France - - - - - 1 Frans Cremers
+/. - c.1958G>A r.(?) p.(Arg653His) Parent #1 - pathogenic (recessive) g.94526295C>T g.94060739C>T - - ABCA4_000114 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Germline yes - - - - DNA SEQ-NG - - retinal disease L-0520 PubMed: Cornelis 2024, Journal: Cornelis 2024 - F - France - - - - - 1 Frans Cremers
+/. - c.1958G>A r.(?) p.(Arg653His) Unknown - pathogenic (recessive) g.94526295C>T g.94060739C>T - - ABCA4_000114 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Unknown - - - - - DNA DHPLC, SEQ - - retinal disease L-0680 PubMed: Cornelis 2024, Journal: Cornelis 2024 - M - France - - - - - 1 Frans Cremers
+?/. - c.1958G>A r.(?) p.(Arg653His) Parent #1 - likely pathogenic g.94526295C>T g.94060739C>T - - ABCA4_000114 - PubMed: Moon 2021 - - Germline - - - - - DNA SEQ, SEQ-NG - gene panel retinal disease Pat1 PubMed: Moon 2021 - - - Korea - - - - - 1 Johan den Dunnen
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