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     

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Population     

Age at death     

VIP     

Data_av     

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Owner     
+/. 13 c.1805G>A r.(?) p.(Arg602Gln) Unknown - pathogenic g.94528265C>T g.94062709C>T c.1805G>A - ABCA4_000284 - PubMed: Zhao 2015 - - Germline - ExAC 2, 119074, 0, 0.0000168 - - - DNA SEQ-NG-I, PCR, SEQ - - retinal disease - PubMed: Zhao 2015 Simplex; c.4469G>A/p.(Cys1490Tyr) was also identified in this patient ? ? Northern Ireland ? - - - - 1 Stéphanie Cornelis
-?/. 13 c.1805G>A r.(?) p.(Arg602Gln) Unknown - likely benign g.94528265C>T g.94062709C>T CGG > CAG - ABCA4_000284 - PubMed: Briggs 2001 - - Germline - ExAC 2, 119074, 0, 0.0000168 - - - DNA SSCA, SEQ - - STGD1 - PubMed: Briggs 2001 - ? ? - ? - - - - 1 Stéphanie Cornelis
+/. 13 c.1805G>A r.(?) p.(Arg602Gln) Unknown - pathogenic g.94528265C>T g.94062709C>T 1805G>A - ABCA4_000284 - PubMed: Webster 2001 - - Germline - ExAC 2, 119074, 0, 0.0000168 - - - DNA SSCA, SEQ - - STGD1 - PubMed: Webster 2001 Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome. ? ? United States - - - - - 1 Stéphanie Cornelis
+/. 13 c.1805G>A r.(?) p.(Arg602Gln) Unknown - pathogenic g.94528265C>T g.94062709C>T c.1805G>A - ABCA4_000284 - PubMed: Ernest 2009 - - Germline - 2, 119074, 0, 0.0000168 - - - DNA PE, DGGE, SEQ - APEX ? - PubMed: Ernest 2009 Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome. ? ? - ? - - - - 1 Stéphanie Cornelis
+?/. 13 c.1805G>A r.(?) p.(Arg602Gln) Both (homozygous) - likely pathogenic g.94528265C>T g.94062709C>T R602Q - ABCA4_000284 - PubMed: Burke 2010 - - Germline ? 2, 119074, 0, 0.0000168 - - - DNA PE, SEQ - APEX STGD1 - PubMed: Burke 2010 - F ? - ? - - - - 1 Stéphanie Cornelis
+/. 13 c.1805G>A r.(?) p.(Arg602Gln) Unknown - pathogenic g.94528265C>T g.94062709C>T c.1805G>A - ABCA4_000284 - PubMed: Zernant 2011 - - Germline - 2, 119074, 0, 0.0000168 - - - DNA PE, SEQ-NG, SEQ - APEX ? - PubMed: Zernant 2011 - ? ? - ? - - - - 1 Stéphanie Cornelis
+?/. 13 c.1805G>A r.(?) p.(Arg602Gln) Unknown - likely pathogenic g.94528265C>T g.94062709C>T 1805G>A - ABCA4_000284 - PubMed: Westeneng-van Haaften 2012, PubMed: van Huet 2014 - - Germline - 2, 119074, 0, 0.0000168 - - - DNA PE, SEQ, MLPA - APEX STGD1 - PubMed: Westeneng-van Haaften 2012, PubMed: van Huet 2014 - M ? Netherlands ? - - - - 1 Stéphanie Cornelis
+?/. 13 c.1805G>A r.(?) p.(Arg602Gln) Unknown - likely pathogenic g.94528265C>T g.94062709C>T 1805G>A - ABCA4_000284 - PubMed: Gemenetzi 2013 - - Germline - 2, 119074, 0, 0.0000168 - - - DNA PE - APEX STGD1 - PubMed: Gemenetzi 2013 - F ? - ? - - - - 1 Stéphanie Cornelis
+/. 13 c.1805G>A r.(?) p.(Arg602Gln) Unknown - pathogenic g.94528265C>T g.94062709C>T c.1805G>A - ABCA4_000284 - PubMed: Fujinami 2013 - - Germline - 2, 119074, 0, 0.0000168 - - - DNA PE - APEX STGD1 - PubMed: Fujinami 2013 - ? ? - ? - - - - 1 Stéphanie Cornelis
+/. 13 c.1805G>A r.(?) p.(Arg602Gln) Unknown - pathogenic g.94528265C>T g.94062709C>T c.1805G>A - ABCA4_000284 - PubMed: Fujinami 2013 - - Germline - 2, 119074, 0, 0.0000168 - - - DNA PE - APEX STGD1 - PubMed: Fujinami 2013 - ? ? - ? - - - - 1 Stéphanie Cornelis
+?/. 13 c.1805G>A r.(?) p.(Arg602Gln) Unknown - likely pathogenic g.94528265C>T g.94062709C>T c.1805G>A - ABCA4_000284 - PubMed: Fujinami 2013 - - Germline - 2, 119074, 0, 0.0000168 - - - DNA PE, PCR, SEQ, SEQ-NG-R - APEX ? - PubMed: Fujinami 2013 - ? ? United Kingdom (Great Britain) ? - - - - 1 Stéphanie Cornelis
+/. 13 c.1805G>A r.(1805g>a) p.(Arg602Gln) Parent #1 ACMG pathogenic (recessive) g.94528265C>T g.94062709C>T - - ABCA4_000284 - PubMed: Cornelis 2017, Journal: Cornelis 2017, Journal: Cornelis 2023 - - SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1805G>A r.(?) p.(Arg602Gln) Parent #1 - pathogenic g.94528265C>T g.94062709C>T - - ABCA4_000284 - PubMed: Zolnikova 2017 - rs61749410 Germline - - - - - DNA SEQ-NG - 325-gene panel retinal disease P023 PubMed: Zolnikova 2017 - - - Russia Ukraine - - - - 1 LOVD
+?/. 13 c.1805G>A r.(?) p.(Arg602Gln) Unknown - likely pathogenic (recessive) g.94528265C>T g.94062709C>T c.1805G>A Arg602Gln Heterozygous - ABCA4_000284 no variant 2nd chromosome PubMed: Zolnikova 2017 - - Unknown - - - - - DNA SEQ-NG - - retinal disease P023 PubMed: Zolnikova 2017 - M ? Russia Ukrain - - - - 1 Stéphanie Cornelis
+?/. 13 c.1805G>A r.(?) p.(Arg602Gln) Both (homozygous) - likely pathogenic (recessive) g.94528265C>T g.94062709C>T c.1805G>A (p.Arg602Gln) - ABCA4_000284 no segregation analysis done PubMed: Zernant 2017 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease 3397 PubMed: Zernant 2017 - - ? United States - - - - - 1 Stéphanie Cornelis
+?/. 13 c.1805G>A r.(?) p.(Arg602Gln) Unknown - likely pathogenic (recessive) g.94528265C>T g.94062709C>T p.R602Q - ABCA4_000284 - PubMed: Chen 2019 - - Unknown - - - - - DNA SEQ - - retinal disease 30 PubMed: Chen 2019 - M ? - white - - - - 1 Stéphanie Cornelis
+?/. 13 c.1805G>A r.(?) p.(Arg602Gln) Unknown - likely pathogenic (recessive) g.94528265C>T g.94062709C>T c.1805G>A p.Arg602Gln Het - ABCA4_000284 - Prevention Genetics - - Unknown - - - - - DNA SEQ-NG - IRD panel retinal disease 2019-220-243 Prevention Genetics - - ? - - - - - - 1 Stéphanie Cornelis
+?/. 13 c.1805G>A r.(?) p.(Arg602Gln) Unknown - likely pathogenic (recessive) g.94528265C>T g.94062709C>T c.1805G>A, p.Arg602Gln Heterozygous - ABCA4_000284 - PubMed: Goetz 2020 - - Unknown - 2, 119074, 0, 0.0000168 - - - DNA SEQ - - retinal disease 2971-3678 PubMed: Goetz 2020 - - ? - - - - - - 1 Stéphanie Cornelis
+?/. 13 c.1805G>A r.(?) p.(Arg602Gln) Unknown - likely pathogenic (recessive) g.94528265C>T g.94062709C>T c.1805G>A, p.Arg602Gln Heterozygous - ABCA4_000284 no variant 2nd chromosome PubMed: Goetz 2020 - - Unknown - 2, 119074, 0, 0.0000168 - - - DNA SEQ - - retinal disease 5093-7059 PubMed: Goetz 2020 - - ? - - - - - - 1 Stéphanie Cornelis
+/. 13 c.1805G>A r.(?) p.(Arg602Gln) Parent #1 ACMG pathogenic (recessive) g.94528265C>T g.94062709C>T - - ABCA4_000284 - PubMed: Corradi 2023, Journal: Corradi 2023 - - Germline - - - - - DNA MIPsm, SEQ-NG - - retinal disease Pat277 PubMed: Corradi 2023, Journal: Corradi 2023 - M - - - - - - - 1 Zelia Corradi
+/. - c.1805G>A r.(?) p.(Arg602Gln) Unknown - pathogenic (recessive) g.94528265C>T g.94062709C>T - - ABCA4_000284 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease L-0408 PubMed: Cornelis 2024, Journal: Cornelis 2024 - M - France - - - - - 1 Frans Cremers
+/. - c.1805G>A r.(?) p.(Arg602Gln) Parent #2 - pathogenic (recessive) g.94528265C>T g.94062709C>T - - ABCA4_000284 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Germline yes - - - - DNA SEQ-NG - - retinal disease L-1050 PubMed: Cornelis 2024, Journal: Cornelis 2024 - F - France - - - - - 1 Frans Cremers
+/. - c.1805G>A r.(?) p.(Arg602Gln) Unknown - pathogenic (recessive) g.94528265C>T g.94062709C>T - - ABCA4_000284 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Germline/De novo (untested) - - - - - DNA SEQ - - retinal disease MEH-other-2 PubMed: Cornelis 2024, Journal: Cornelis 2024 family, 2 affected M - United Kingdom (Great Britain) - - - - - 2 Stéphanie Cornelis
+/. - c.1805G>A r.(?) p.(Arg602Gln) Unknown - pathogenic (recessive) g.94528265C>T g.94062709C>T - - ABCA4_000284 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Germline/De novo (untested) - - - - - DNA SEQ - - retinal disease MEH-nonmild-11 PubMed: Cornelis 2024, Journal: Cornelis 2024 relative of MEH-other-2 M - United Kingdom (Great Britain) - - - - - 1 Stéphanie Cornelis
+/. - c.1805G>A r.(?) p.(Arg602Gln) Unknown - pathogenic (recessive) g.94528265C>T g.94062709C>T - - ABCA4_000284 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Germline/De novo (untested) - - - - - DNA SEQ - - retinal disease MEH-nonmild-93 PubMed: Cornelis 2024, Journal: Cornelis 2024 - F - United Kingdom (Great Britain) - - - - - 1 Stéphanie Cornelis
+/. - c.1805G>A r.(?) p.(Arg602Gln) Unknown - pathogenic (recessive) g.94528265C>T g.94062709C>T - - ABCA4_000284 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Germline/De novo (untested) - - - - - DNA SEQ - - retinal disease MEH-nonmild-203 PubMed: Cornelis 2024, Journal: Cornelis 2024 - M - United Kingdom (Great Britain) - - - - - 1 Stéphanie Cornelis
+/. - c.1805G>A r.(?) p.(Arg602Gln) Unknown - pathogenic (recessive) g.94528265C>T g.94062709C>T - - ABCA4_000284 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Germline/De novo (untested) - - - - - DNA SEQ - - retinal disease MEH-nonmild-434 PubMed: Cornelis 2024, Journal: Cornelis 2024 - F - United Kingdom (Great Britain) - - - - - 1 Stéphanie Cornelis
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