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.

14 entries on 1 page. Showing entries 1 - 14.
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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     
+?/. 10 c.1343T>A r.(?) p.(Met448Lys) Parent #2 - likely pathogenic g.94544159A>T g.94078603A>T - - ABCA4_000063 - PubMed: Sciezyiska 2015 - - Unknown - - - - - DNA SEQ, SEQ-NG-R - - STGD - PubMed: Sciezyiska 2015 - - - Poland - - - - - 1 Monika Oldak
+?/. 10 c.1343T>A r.(?) p.(Met448Lys) Parent #2 - likely pathogenic g.94544159A>T g.94078603A>T - - ABCA4_000063 - PubMed: Sciezyiska 2015 - - Unknown - - - - - DNA SEQ, SEQ-NG-R - - STGD - PubMed: Sciezyiska 2015 - - - Poland - - - - - 1 Monika Oldak
+?/. 10 c.1343T>A r.(?) p.(Met448Lys) Unknown - likely pathogenic g.94544159A>T g.94078603A>T p.M448K - ABCA4_000063 - PubMed: Sciezynska 2015 - - Germline ? 2, 121412, 0, 0.00001647 - - - DNA SEQ-NG-R - - STGD1 - PubMed: Ścieżyńska 2015 ? ? ? - Poland - - - - 1 Stéphanie Cornelis
+?/. 10 c.1343T>A r.(?) p.(Met448Lys) Unknown - likely pathogenic g.94544159A>T g.94078603A>T p.M448K - ABCA4_000063 - PubMed: Sciezynska 2015 - - Germline ? 2, 121412, 0, 0.00001647 - - - DNA SEQ-NG-R - - STGD1 - PubMed: Ścieżyńska 2015 ? ? ? - Poland - - - - 1 Stéphanie Cornelis
+/. 10 c.1343T>A r.(1343u>a) p.(Met448Lys) Parent #1 ACMG pathogenic (recessive) g.94544159A>T g.94078603A>T - - ABCA4_000063 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 - - - - - - - - - - - - - - - - - - - - - - -
+/+? 10 c.1343T>A r.(?) p.(Met448Lys) Unknown - pathogenic g.94544159A>T g.94078603A>T - - ABCA4_000063 - PubMed: Garces 2018, Journal: Garces 2018 - - Germline/De novo (untested) - - - - - DNA SEQ-NG Blood - STGD1 Patient 11 PubMed: Garces 2018, Journal: Garces 2018 - ? - Canada - >45y - - - 1 Fabian Garces
?/. 10 c.1343T>A r.(?) p.(Met448Lys) Unknown - VUS g.94544159A>T g.94078603A>T c.1343T>A, p.(Met448Lys)57 - ABCA4_000063 - PubMed: Garces 2018 - - Unknown - - - - - DNA SEQ-NG - - retinal disease 11 PubMed: Garces 2018 - - ? Canada - - - - - 1 Stéphanie Cornelis
?/. 10 c.1343T>A r.(?) p.(Met448Lys) Unknown - VUS g.94544159A>T g.94078603A>T c.1343T>A p.Met448Lys het - ABCA4_000063 - Prevention Genetics - - Unknown - - - - - DNA SEQ-NG - ABCA4 Panel retinal disease 2016-272-548 Prevention Genetics - - ? - white - - - - 1 Stéphanie Cornelis
?/. 10 c.1343T>A r.(?) p.(Met448Lys) Unknown - VUS g.94544159A>T g.94078603A>T c.1343T>A, p.Met448Lys Heterozygous - ABCA4_000063 - PubMed: Goetz 2020 - - Unknown - 2, 121412, 0, 0.00001647 - - - DNA SEQ - - retinal disease 588-1134 PubMed: Goetz 2020 - - ? - - - - - - 1 Stéphanie Cornelis
+/. - c.1343T>A r.(?) p.(Met448Lys) Unknown - pathogenic (recessive) g.94544159A>T g.94078603A>T - - ABCA4_000063 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Unknown - - - - - DNA SEQ-NG - - retinal disease L-0272 PubMed: Cornelis 2024, Journal: Cornelis 2024 - M - France - - - - - 1 Frans Cremers
+/. - c.1343T>A r.(?) p.(Met448Lys) Unknown - pathogenic (recessive) g.94544159A>T g.94078603A>T - - ABCA4_000063 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Unknown - - - - - DNA SEQ - - retinal disease L-0184 PubMed: Cornelis 2024, Journal: Cornelis 2024 - F - France - - - - - 1 Frans Cremers
+/. - c.1343T>A r.(?) p.(Met448Lys) Parent #2 - pathogenic (recessive) g.94544159A>T g.94078603A>T - - ABCA4_000063 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Germline yes - - - - DNA SEQ-NG - - retinal disease L-0964 PubMed: Cornelis 2024, Journal: Cornelis 2024 - F - France - - - - - 1 Frans Cremers
+/. - c.1343T>A r.(?) p.(Met448Lys) Unknown - pathogenic (recessive) g.94544159A>T g.94078603A>T - - ABCA4_000063 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Germline/De novo (untested) - - - - - DNA SEQ - - retinal disease MEH-nonmild-389 PubMed: Cornelis 2024, Journal: Cornelis 2024 - M - United Kingdom (Great Britain) - - - - - 1 Stéphanie Cornelis
+/. 10 c.1343T>A r.(?) p.(Met448Lys) Parent #1 ACMG pathogenic g.94544159A>T g.94078603A>T - - ABCA4_000063 - PubMed: Hitti-Malin 2024, Journal: Hitti-Malin 2024 - - Germline - - - - - DNA SEQ, SEQ-NG - smMIP-based 105 iMD/AMD genes macular dystrophy 074804 PubMed: Hitti-Malin 2024, Journal: Hitti-Malin 2024 - M - - - - - - - 1 Rebekkah Hitti-Malin
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