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.

23 entries on 1 page. Showing entries 1 - 23.
Legend   How to query  

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.926C>G r.(?) p.(Pro309Arg) Unknown - likely pathogenic g.94546207G>C g.94080651G>C - - ABCA4_000083 - PubMed: Zernant 2014 - - Germline - - - - - DNA SEQ-NG-I - - STGD1 - PubMed: Zernant 2014 - - - United States African American - - - - 1 Jana Zernant
?/. 8 c.926C>G r.(?) p.(Pro309Arg) Unknown - likely pathogenic g.94546207G>C g.94080651G>C - - ABCA4_000083 - PubMed: Zernant 2014 - - Germline - - - - - DNA SEQ-NG-I - - STGD1 - PubMed: Zernant 2014 - - - United States African American - - - - 1 Jana Zernant
+/. 8 c.926C>G r.(?) p.(Pro309Arg) Unknown - pathogenic g.94546207G>C g.94080651G>C P309R - ABCA4_000083 - PubMed: Cideciyan 2009 - - Germline yes 16, 121336, 0, 0.0001319 - - - DNA ? - - STGD1 - PubMed: Cideciyan 2009 ? F ? - ? - - - - 1 Stéphanie Cornelis
+?/. 8 c.926C>G r.(926c>g) p.(Pro309Arg) Parent #1 ACMG likely pathogenic (recessive) g.94546207G>C g.94080651G>C - - ABCA4_000083 - PubMed: Cornelis 2017, Journal: Cornelis 2017, Journal: Cornelis 2023 - - SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.926C>G r.(?) p.(Pro309Arg) Unknown - pathogenic (recessive) g.94546207G>C - 1:94546207G>C ENST00000370225.3:c.926C>G (Pro309Arg) - ABCA4_000083 - PubMed: Carss 2017 - - Germline - - - - - DNA SEQ-NG - WGS retinal disease W000142 PubMed: Carss 2017 - M - United Kingdom (Great Britain) Africa - - - - 1 LOVD
?/. - c.926C>G r.(?) p.(Pro309Arg) Unknown - VUS g.94546207G>C - - - ABCA4_000083 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 8 c.926C>G r.(?) p.(Pro309Arg) Unknown - likely pathogenic (recessive) g.94546207G>C g.94080651G>C c.926C>G p.Pro309Arg Het - ABCA4_000083 - Prevention Genetics - - Unknown - - - - - DNA SEQ-NG - IRD panel retinal disease 2019-136-331 Prevention Genetics - - ? - - - - - - 1 Stéphanie Cornelis
+?/. 8 c.926C>G r.(?) p.(Pro309Arg) Unknown - likely pathogenic (recessive) g.94546207G>C g.94080651G>C c.926C>G, p.Pro309rg Heterozygous - ABCA4_000083 no variant 2nd chromosome PubMed: Goetz 2020 - - Unknown - 16, 121336, 0, 0.0001319 - - - DNA SEQ - - retinal disease 314-1696 PubMed: Goetz 2020 - - ? - - - - - - 1 Stéphanie Cornelis
+?/. 8 c.926C>G r.(?) p.(Pro309Arg) Unknown - likely pathogenic (recessive) g.94546207G>C g.94080651G>C c.926C>G, p.Pro309rg Heterozygous - ABCA4_000083 - PubMed: Goetz 2020 - - Unknown - 16, 121336, 0, 0.0001319 - - - DNA SEQ-NG-I - solid state SBS retinal disease 5237-6357 PubMed: Goetz 2020 - - ? - - - - - - 1 Stéphanie Cornelis
+?/. 8 c.926C>G r.(?) p.(Pro309Arg) Unknown - likely pathogenic (recessive) g.94546207G>C g.94080651G>C ENST00000370225.3:c.926C>G p.Pro309Arg 0/1 - ABCA4_000083 - PubMed: Carss 2017 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease W000142 PubMed: Carss 2017 - M ? England Africa - - - - 1 Stéphanie Cornelis
+?/. 8 c.926C>G r.(?) p.(Pro309Arg) Unknown - likely pathogenic (recessive) g.94546207G>C g.94080651G>C c.926C>G p.Pro309Arg het - ABCA4_000083 - Prevention Genetics - - Unknown - - - - - DNA SEQ-NG - STGDMD panel retinal disease 2017-097-183 Prevention Genetics - - ? - - - - - - 1 Stéphanie Cornelis
+?/. 8 c.926C>G r.(?) p.(Pro309Arg) Unknown - likely pathogenic (recessive) g.94546207G>C g.94080651G>C c.926C>G, p.Pro309rg Heterozygous - ABCA4_000083 - PubMed: Goetz 2020 - - Unknown - 16, 121336, 0, 0.0001319 - - - DNA SEQ-NG-I - solid state SBS retinal disease 2251-2908 PubMed: Goetz 2020 - - ? - - - - - - 1 Stéphanie Cornelis
+?/. 8 c.926C>G r.(?) p.(Pro309Arg) Unknown - likely pathogenic (recessive) g.94546207G>C g.94080651G>C c.926C>G, p.Pro309Arg Heterozygous - ABCA4_000083 - PubMed: Goetz 2020 - - Unknown - 16, 121336, 0, 0.0001319 - - - DNA SEQ - - retinal disease 2908-3601 PubMed: Goetz 2020 - - ? - - - - - - 1 Stéphanie Cornelis
+?/. 8 c.926C>G r.(?) p.(Pro309Arg) Unknown - likely pathogenic (recessive) g.94546207G>C g.94080651G>C c.926C>G, p.Pro309rg Heterozygous - ABCA4_000083 - PubMed: Goetz 2020 - - Unknown - 16, 121336, 0, 0.0001319 - - - DNA SEQ-NG-I - solid state SBS retinal disease 3591-5264 PubMed: Goetz 2020 - - ? - - - - - - 1 Stéphanie Cornelis
+?/. 8 c.926C>G r.(?) p.(Pro309Arg) Unknown - likely pathogenic (recessive) g.94546207G>C g.94080651G>C c.926C>G, p.Pro309rg Heterozygous - ABCA4_000083 - PubMed: Goetz 2020 - - Unknown - 16, 121336, 0, 0.0001319 - - - DNA SEQ-NG-I - solid state SBS retinal disease 4526-5493 PubMed: Goetz 2020 - - ? - - - - - - 1 Stéphanie Cornelis
+?/. 8 c.926C>G r.(?) p.(Pro309Arg) Unknown - likely pathogenic (recessive) g.94546207G>C g.94080651G>C c.926C>G, p.Pro309rg Heterozygous - ABCA4_000083 - PubMed: Goetz 2020 - - Unknown - 16, 121336, 0, 0.0001319 - - - DNA SEQ - - retinal disease 5131-7134 PubMed: Goetz 2020 - - ? - - - - - - 1 Stéphanie Cornelis
+?/. 8 c.926C>G r.(?) p.(Pro309Arg) Unknown - likely pathogenic (recessive) g.94546207G>C g.94080651G>C c.926C>G, p.Pro309rg Heterozygous - ABCA4_000083 - PubMed: Goetz 2020 - - Unknown - 16, 121336, 0, 0.0001319 - - - DNA SEQ-NG-I - solid state SBS retinal disease 5266-6360 PubMed: Goetz 2020 - - ? - - - - - - 1 Stéphanie Cornelis
+?/. 8 c.926C>G r.(?) p.(Pro309Arg) Unknown - likely pathogenic (recessive) g.94546207G>C g.94080651G>C c.926C>G, p.Pro309rg Heterozygous - ABCA4_000083 - PubMed: Goetz 2020 - - Unknown - 16, 121336, 0, 0.0001319 - - - DNA SEQ - - retinal disease 6118-7676 PubMed: Goetz 2020 - - ? - - - - - - 1 Stéphanie Cornelis
+?/. - c.926C>G r.(?) p.(Pro309Arg) Unknown - likely pathogenic g.94546207G>C g.94080651G>C ABCA4 c.926C>G, p.Pro309Arg - ABCA4_000083 heterozygous PubMed: Turro 2020 - - Germline/De novo (untested) ? - - - - DNA SEQ-NG-I blood whole genome sequencing retinal disease W000142 PubMed: Turro 2020 only individuals with mutations in retinal disease genes from this publication were inserted into LOVD ? - - - - - - - 1 LOVD
+?/. - c.926C>G r.(?) p.(Pro309Arg) Both (homozygous) - likely pathogenic (recessive) g.94546207G>C g.94080651G>C - - ABCA4_000083 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Germline yes - - - - DNA SEQ-NG - - retinal disease L-0194 PubMed: Cornelis 2024, Journal: Cornelis 2024 - F - France - - - - - 1 Frans Cremers
+?/. - c.926C>G r.(?) p.(Pro309Arg) Unknown - likely pathogenic (recessive) g.94546207G>C g.94080651G>C - - ABCA4_000083 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Germline/De novo (untested) - - - - - DNA SEQ - - retinal disease MEH-nonmild-213 PubMed: Cornelis 2024, Journal: Cornelis 2024 family, 2 affected M - United Kingdom (Great Britain) - - - - - 2 Stéphanie Cornelis
+?/. - c.926C>G r.(?) p.(Pro309Arg) Unknown - likely pathogenic (recessive) g.94546207G>C g.94080651G>C - - ABCA4_000083 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Germline/De novo (untested) - - - - - DNA SEQ - - retinal disease MEH-other-64 PubMed: Cornelis 2024, Journal: Cornelis 2024 relative of MEH-nonmild-213 F - United Kingdom (Great Britain) - - - - - 1 Stéphanie Cornelis
+/. 8 c.926C>G r.(?) p.(Pro309Arg) Unknown ACMG pathogenic g.94546207G>C g.94080651G>C c.294C>G(;)926C>G - ABCA4_000083 - PubMed: Hitti-Malin 2024, Journal: Hitti-Malin 2024 - - Germline - - - - - DNA SEQ, SEQ-NG - smMIP-based 105 iMD/AMD genes macular dystrophy DNA20-09324 PubMed: Hitti-Malin 2024, Journal: Hitti-Malin 2024 - F - - - - - - - 1 Rebekkah Hitti-Malin
Legend   How to query  


Screenscraping/webscraping (downloading large amounts of data using scripts) is strictly prohibited.
Use our APIs to retrieve data.