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.

30 entries on 1 page. Showing entries 1 - 30.
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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     
+/. 8 c.1086T>A r.(?) p.(Tyr362*) Unknown - pathogenic g.94546047A>T g.94080491A>T Y362X - ABCA4_000150 - PubMed: Rivera 2000, PubMed: Gerth 2002 - - Germline - - - - - DNA DGGE, DHPLC, SSCA, PCR, SEQ - - STGD1 - PubMed: Rivera 2000, PubMed: Gerth 2002 - F ? Germany ? - - - - 1 Stéphanie Cornelis
+?/. 8 c.1086T>A r.(?) p.(Tyr362*) Unknown - likely pathogenic g.94546047A>T g.94080491A>T Tyr362Stop TAT>TAA - ABCA4_000150 - PubMed: Schindler 2010 - - Germline ? - - - - DNA SNPlex, TaqMan, SSCA, SEQ - - STGD1 - PubMed: Schindler 2010 - ? ? United States Iowa - - - - 1 Stéphanie Cornelis
+/. 8 c.1086T>A r.(?) p.(Tyr362*) Unknown - pathogenic g.94546047A>T g.94080491A>T Tyr362Term - ABCA4_000150 - PubMed: Oldani 2012 - - Germline - - - - - DNA PCR, SEQ - - STGD1 - PubMed: Oldani 2012 - ? ? - ? - - - - 1 Stéphanie Cornelis
?/. 8 c.1086T>A r.(?) p.(Tyr362*) Unknown - VUS g.94546047A>T g.94080491A>T Y362X - ABCA4_000150 - PubMed: Cideciyan 2009 - - Germline - - - - - DNA ? - - CORD - PubMed: Cideciyan 2009 ? M ? - ? - - - - 1 Stéphanie Cornelis
+/. 8 c.1086T>A r.(1086u>a) p.(Tyr362Ter) Parent #1 ACMG pathogenic (recessive) g.94546047A>T g.94080491A>T - - ABCA4_000150 - PubMed: Cornelis 2017, Journal: Cornelis 2017, Journal: Cornelis 2023 - - SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
+/. 8 c.1086T>A r.(?) p.(Tyr362*) Parent #1 - pathogenic g.94546047A>T g.94080491A>T - - ABCA4_000150 - PubMed: Khan 2019 - - Unknown no - - - - DNA SEQ, MIPsm - - STGD1 ? PubMed: Khan 2019 - - - Germany - - - - - 1 Stéphanie Cornelis
+/. 8 c.1086T>A r.(?) p.(Tyr362*) Unknown - pathogenic (recessive) g.94546047A>T g.94080491A>T Y362X - ABCA4_000150 - PubMed: Huang 2014 - - Unknown - - - - - DNA ? - - retinal disease P8 PubMed: Huang 2014 - F ? United States - - - - - 1 Stéphanie Cornelis
+/. 8 c.1086T>A r.(?) p.(Tyr362*) Parent #1 - pathogenic (recessive) g.94546047A>T g.94080491A>T c.1086T>A p.Tyr362Stop - ABCA4_000150 - PubMed: Cideciyan 2015 - - Unknown yes - - - - DNA SEQ-NG-I - - retinal disease 69 PubMed: Cideciyan 2015 - F ? - - - - - - 1 Stéphanie Cornelis
+/. 8 c.1086T>A r.(?) p.(Tyr362*) Unknown - pathogenic (recessive) g.94546047A>T g.94080491A>T c.1086T>A p.(Y362*) - ABCA4_000150 no variant 2nd chromosome PubMed: Schulz 2017 - - Unknown - - - - - DNA arraySEQ, SEQ-NG - RetChip retinal disease Unknown 397 PubMed: Schulz 2017 191 F, 144 M in this study - ? Germany - - - - - 1 Stéphanie Cornelis
+/. 8 c.1086T>A r.(?) p.(Tyr362*) Unknown - pathogenic (recessive) g.94546047A>T g.94080491A>T p.Tyr362X - ABCA4_000150 no variant 2nd chromosome PubMed: Zhao 2018 - - Unknown - - - - - DNA SEQ-NG - - retinal disease Unknown 606 PubMed: Zhao 2018 mutations were not reported per patient; these 33 mutations were present in 14 patients - ? United States - - - - - 1 Stéphanie Cornelis
+/. 8 c.1086T>A r.(?) p.(Tyr362*) Unknown - pathogenic (recessive) g.94546047A>T g.94080491A>T c.1086T>A, p.Tyr362Ter - ABCA4_000150 - PubMed: Fujinami 2019 - - Unknown - - - - - DNA SEQ-NG - SEQ-NG (143 cases), APEX (44 cases), SSCP (24 cases), SEQ (134) retinal disease 19013 PubMed: Fujinami 2019 191 F, 154 M in this study - ? United States - - - - - 1 Stéphanie Cornelis
+/. 8 c.1086T>A r.(?) p.(Tyr362*) Unknown - pathogenic (recessive) g.94546047A>T g.94080491A>T c.1086T>A, p.Tyr362Ter - ABCA4_000150 - PubMed: Fujinami 2019 - - Unknown - - - - - DNA SEQ-NG - SEQ-NG (143 cases), APEX (44 cases), SSCP (24 cases), SEQ (134) retinal disease 16007 PubMed: Fujinami 2019 191 F, 154 M in this study - ? United States - - - - - 1 Stéphanie Cornelis
+/. 8 c.1086T>A r.(?) p.(Tyr362*) Unknown - pathogenic (recessive) g.94546047A>T g.94080491A>T c.1086T>A p.Tyr362* Het - ABCA4_000150 - Prevention Genetics - - Unknown - - - - - DNA SEQ-NG - IRD panel retinal disease 2018-078-074 Prevention Genetics - - ? - - - - - - 1 Stéphanie Cornelis
+/. 8 c.1086T>A r.(?) p.(Tyr362*) Unknown - pathogenic (recessive) g.94546047A>T g.94080491A>T c.1086T>A, p.Tyr362Stop Heterozygous - ABCA4_000150 - PubMed: Goetz 2020 - - Unknown - - - - - DNA SEQ-NG-I - solid state SBS retinal disease 1790-2375 PubMed: Goetz 2020 - - ? - - - - - - 1 Stéphanie Cornelis
+/. 8 c.1086T>A r.(?) p.(Tyr362*) Unknown - pathogenic (recessive) g.94546047A>T g.94080491A>T c.1086T>A, p.Tyr362Stop Heterozygous - ABCA4_000150 - PubMed: Goetz 2020 - - Unknown - - - - - DNA SEQ-NG-I - solid state SBS retinal disease 3346-4094 PubMed: Goetz 2020 - - ? - - - - - - 1 Stéphanie Cornelis
+/. 8 c.1086T>A r.(?) p.(Tyr362*) Unknown - pathogenic (recessive) g.94546047A>T g.94080491A>T c.1086T>A, p.Tyr362* Heterozygous - ABCA4_000150 - PubMed: Goetz 2020 - - Unknown - - - - - DNA SEQ-NG-I - solid state SBS retinal disease 3652-5368 PubMed: Goetz 2020 - - ? - - - - - - 1 Stéphanie Cornelis
+/. 8 c.1086T>A r.(?) p.(Tyr362*) Unknown - pathogenic (recessive) g.94546047A>T g.94080491A>T c.1086T>A, p.Y362X heterozygous - ABCA4_000150 - PubMed: Goetz 2020 - - Unknown - - - - - DNA SEQ - - retinal disease 442-945 PubMed: Goetz 2020 - - ? - - - - - - 1 Stéphanie Cornelis
+/. 8 c.1086T>A r.(?) p.(Tyr362*) Unknown - pathogenic (recessive) g.94546047A>T g.94080491A>T c.1086T>A, p.Tyr362* Heterozygous - ABCA4_000150 - PubMed: Goetz 2020 - - Unknown - - - - - DNA SEQ - - retinal disease 960-1480 PubMed: Goetz 2020 - - ? - - - - - - 1 Stéphanie Cornelis
+/. 8 c.1086T>A r.(?) p.(Tyr362*) Unknown - pathogenic (recessive) g.94546047A>T - c.1086T>A - ABCA4_000150 - PubMed: Khan 2020 - - Unknown - - - - - DNA MIPsm - smMIPs-based complete ABCA4 gene retinal disease 70569 PubMed: Khan 2020 - F - South Africa - - - - - 1 LOVD
+/. 8 c.1086T>A r.(?) p.(Tyr362*) Unknown - pathogenic (recessive) g.94546047A>T - c.1086T>A(;)5603A>T - ABCA4_000150 - PubMed: Khan 2020 - - Unknown ? - - - - DNA MIPsm - smMIPs-based complete ABCA4 gene retinal disease 66810 PubMed: Khan 2019PubMed: Khan 2020 - F - - - - - - - 1 LOVD
+/. - c.1086T>A r.(?) p.(Tyr362Ter) Unknown - pathogenic (recessive) g.94546047A>T g.94080491A>T - - ABCA4_000150 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Unknown - - - - - DNA SEQ-NG - - retinal disease L-0205 PubMed: Cornelis 2024, Journal: Cornelis 2024 - F - France - - - - - 1 Frans Cremers
+/. - c.1086T>A r.(?) p.(Tyr362Ter) Parent #1 - pathogenic (recessive) g.94546047A>T g.94080491A>T - - ABCA4_000150 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Germline yes - - - - DNA SEQ - - retinal disease L-0481 PubMed: Cornelis 2024, Journal: Cornelis 2024 - F - France - - - - - 1 Frans Cremers
+/. - c.1086T>A r.(?) p.(Tyr362Ter) Parent #1 - pathogenic (recessive) g.94546047A>T g.94080491A>T - - ABCA4_000150 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Germline yes - - - - DNA SEQ - - retinal disease L-0493 PubMed: Cornelis 2024, Journal: Cornelis 2024 - F - France - - - - - 1 Frans Cremers
+/. - c.1086T>A r.(?) p.(Tyr362Ter) Parent #1 - pathogenic (recessive) g.94546047A>T g.94080491A>T - - ABCA4_000150 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Germline yes - - - - DNA DHPLC, SEQ - - retinal disease L-0771 PubMed: Cornelis 2024, Journal: Cornelis 2024 - M - France - - - - - 1 Frans Cremers
+/. - c.1086T>A r.(?) p.(Tyr362Ter) Unknown - pathogenic (recessive) g.94546047A>T g.94080491A>T - - ABCA4_000150 no variant 2nd chromosome PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Unknown - - - - - DNA DHPLC, SEQ - - retinal disease L-0827 PubMed: Cornelis 2024, Journal: Cornelis 2024 - F - France - - - - - 1 Frans Cremers
+/. - c.1086T>A r.(?) p.(Tyr362Ter) Unknown - pathogenic (recessive) g.94546047A>T g.94080491A>T - - ABCA4_000150 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Unknown - - - - - DNA DHPLC, SEQ - - retinal disease L-0842 PubMed: Cornelis 2024, Journal: Cornelis 2024 - F - France - - - - - 1 Frans Cremers
+/. - c.1086T>A r.(?) p.(Tyr362Ter) Parent #1 - pathogenic (recessive) g.94546047A>T g.94080491A>T - - ABCA4_000150 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Germline yes - - - - DNA SEQ - - retinal disease L-0942 PubMed: Cornelis 2024, Journal: Cornelis 2024 - M - France - - - - - 1 Frans Cremers
+/. - c.1086T>A r.(?) p.(Tyr362Ter) Parent #1 - pathogenic (recessive) g.94546047A>T g.94080491A>T - - ABCA4_000150 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Germline yes - - - - DNA SEQ - - retinal disease L-0956 PubMed: Cornelis 2024, Journal: Cornelis 2024 - F - France - - - - - 1 Frans Cremers
+/. - c.1086T>A r.(?) p.(Tyr362Ter) Parent #2 - pathogenic (recessive) g.94546047A>T g.94080491A>T - - ABCA4_000150 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Germline yes - - - - DNA SEQ-NG - - retinal disease L-0621 PubMed: Cornelis 2024, Journal: Cornelis 2024 - F - France - - - - - 1 Frans Cremers
+/. - c.1086T>A r.(?) p.(Tyr362Ter) Unknown ACMG pathogenic (recessive) g.94546047A>T g.94080491A>T - - ABCA4_000150 ACMG PM2, PVS1, PP5 PubMed: Weisschuh 2024 236078 - Germline - - - - - DNA SEQ-NG - WGS ? CRD-779 PubMed: Weisschuh 2024 patient, no family history F - Germany - - - - - 1 Johan den Dunnen
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