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.

39 entries on 1 page. Showing entries 1 - 39.
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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     
?/. 13 c.1927G>A r.(?) p.(Val643Met) Unknown - VUS g.94528143C>T g.94062587C>T - - ABCA4_000076 - PubMed: Zernant 2014 - - Germline - - - - - DNA SEQ-NG-I - - STGD1 - PubMed: Zernant 2014 - - - United States African American - - - - 1 Jana Zernant
?/. 13 c.1927G>A r.(?) p.(Val643Met) Unknown - VUS g.94528143C>T g.94062587C>T - - ABCA4_000076 - PubMed: Zernant 2014 - - Germline - - - - - DNA SEQ-NG-I - - STGD1 - PubMed: Zernant 2014 - - - United States African American - - - - 1 Jana Zernant
?/. 13 c.1927G>A r.(?) p.(Val643Met) Unknown - VUS g.94528143C>T g.94062587C>T - - ABCA4_000076 - PubMed: Zernant 2014 - - Germline - - - - - DNA SEQ-NG-I - - STGD1 - PubMed: Zernant 2014 - - - United States African American - - - - 1 Jana Zernant
+?/. 13 c.1927G>A r.(?) p.(Val643Met) Unknown - likely pathogenic g.94528143C>T g.94062587C>T 24 c.3602T>G p.Leu1201Arg heterozygous - ABCA4_000076 - PubMed: Alapati 2014 - - Germline - ExAC 196, 121108, 1, 0.001618 - - - DNA PE, PCR, SEQ - APEX CORD - PubMed: Alapati 2014 - ? ? United States American - - - - 1 Stéphanie Cornelis
+?/. 13 c.1927G>A r.(?) p.(Val643Met) Unknown - likely pathogenic g.94528143C>T g.94062587C>T GTG > ATG - ABCA4_000076 - PubMed: Briggs 2001 - - Germline ? ExAC 196, 121108, 1, 0.001618 - - - DNA SSCA, SEQ - - STGD1 - PubMed: Briggs 2001 - ? ? - ? - - - - 1 Stéphanie Cornelis
?/. 13 c.1927G>A r.(?) p.(Val643Met) Unknown - VUS g.94528143C>T g.94062587C>T 1927G>A - ABCA4_000076 - PubMed: Webster 2001 - - Germline - ExAC 196, 121108, 1, 0.001618 - - - 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.1927G>A r.(?) p.(Val643Met) Unknown - VUS g.94528143C>T g.94062587C>T c.1927G>A, p.Val643Met - ABCA4_000076 - PubMed: Roberts 2012 - - Germline - 196, 121108, 1, 0.001618 - - - DNA PE - APEX ? - PubMed: Roberts 2012 cohort of 73% Stargardt disease, 16% Retinitis pigmentosa, 11% macular dystrophy; variants described separately, additional variant may be present; 9 homozygote, 90 presumed compound heterozygotes (41 verified biallelic, family studies) ? ? South Africa In this cohort: 84% white, 9% African, 4% Indian, 3% mixed ancestry - - - - 1 Stéphanie Cornelis
-?/. 13 c.1927G>A r.(1927g>a) p.(Val643Met) Parent #1 ACMG likely benign g.94528143C>T g.94062587C>T - - ABCA4_000076 - PubMed: Cornelis 2017, Journal: Cornelis 2017, Journal: Cornelis 2023 - - SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1927G>A r.(?) p.(Val643Met) Unknown - likely benign g.94528143C>T g.94062587C>T ABCA4(NM_000350.3):c.1927G>A (p.V643M) - ABCA4_000076 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 13 c.1927G>A r.(?) p.(Val643Met) Unknown - likely pathogenic (recessive) g.94528143C>T g.94062587C>T c.1927G>A,p.Val643Met - ABCA4_000076 - PubMed: Fujinami 2019 - - Unknown - - - - - DNA SEQ-NG - SEQ-NG (143 cases), APEX (44 cases), SSCP (24 cases), SEQ (134) retinal disease 11020 PubMed: Fujinami 2019 191 F, 154 M in this study - ? United States - - - - - 1 Stéphanie Cornelis
+?/. 13 c.1927G>A r.(?) p.(Val643Met) Unknown - likely pathogenic (recessive) g.94528143C>T g.94062587C>T c.1927G>A,p.Val643Met - ABCA4_000076 - PubMed: Fujinami 2019 - - Unknown - - - - - DNA SEQ-NG - SEQ-NG (143 cases), APEX (44 cases), SSCP (24 cases), SEQ (134) retinal disease 17006 PubMed: Fujinami 2019 191 F, 154 M in this study - ? United States - - - - - 1 Stéphanie Cornelis
+?/. 13 c.1927G>A r.(?) p.(Val643Met) Unknown - likely pathogenic (recessive) g.94528143C>T g.94062587C>T c.1927G>A p.(Ala643Met) - ABCA4_000076 - PubMed: Del Pozo-Valero 2020 - - Germline - - - - - DNA SEQ-NG - - retinal disease MD-1070 PubMed: Del Pozo-Valero 2020 - - ? Spain - - - - - 1 Stéphanie Cornelis
+?/. 13 c.1927G>A r.(?) p.(Val643Met) Unknown - likely pathogenic (recessive) g.94528143C>T g.94062587C>T c.1927G>A, p.Val643Met Heterozygous - ABCA4_000076 - PubMed: Goetz 2020 - - Unknown - 196, 121108, 1, 0.001618 - - - DNA SEQ-NG-I - solid state SBS retinal disease 1350-1917 PubMed: Goetz 2020 - - ? - - - - - - 1 Stéphanie Cornelis
+?/. 13 c.1927G>A r.(?) p.(Val643Met) Unknown - likely pathogenic (recessive) g.94528143C>T g.94062587C>T c.1927G>A, p.Val643Met Heterozygous - ABCA4_000076 no variant 2nd chromosome PubMed: Goetz 2020 - - Unknown - 196, 121108, 1, 0.001618 - - - DNA SEQ-NG-I - solid state SBS retinal disease 1404-1941 PubMed: Goetz 2020 - - ? - - - - - - 1 Stéphanie Cornelis
+?/. 13 c.1927G>A r.(?) p.(Val643Met) Unknown - likely pathogenic (recessive) g.94528143C>T g.94062587C>T c.1927G>A, p.Val643Met Heterozygous - ABCA4_000076 - PubMed: Goetz 2020 - - Unknown - 196, 121108, 1, 0.001618 - - - DNA SEQ-NG-I - solid state SBS retinal disease 1988-3488 PubMed: Goetz 2020 - - ? - - - - - - 1 Stéphanie Cornelis
+?/. 13 c.1927G>A r.(?) p.(Val643Met) Unknown - likely pathogenic (recessive) g.94528143C>T g.94062587C>T c.1927G>A, p.Val643Met Heterozygous - ABCA4_000076 - PubMed: Goetz 2020 - - Unknown - 196, 121108, 1, 0.001618 - - - DNA SEQ-NG-I - solid state SBS retinal disease 3260-4000 PubMed: Goetz 2020 - - ? - - - - - - 1 Stéphanie Cornelis
+?/. 13 c.1927G>A r.(?) p.(Val643Met) Unknown - likely pathogenic (recessive) g.94528143C>T g.94062587C>T c.1927G>A, p.Val643Met Heterozygous - ABCA4_000076 no variant 2nd chromosome PubMed: Goetz 2020 - - Unknown - 196, 121108, 1, 0.001618 - - - DNA SEQ-NG-I - solid state SBS retinal disease 4808-5827 PubMed: Goetz 2020 - - ? - - - - - - 1 Stéphanie Cornelis
+?/. 13 c.1927G>A r.(?) p.(Val643Met) Unknown - likely pathogenic (recessive) g.94528143C>T g.94062587C>T c.1927G>A, p.Val643Met Heterozygous - ABCA4_000076 - PubMed: Goetz 2020 - - Unknown - 196, 121108, 1, 0.001618 - - - DNA arraySEQ, SEQ - Gene Chip retinal disease 508-1047 PubMed: Goetz 2020 - - ? - - - - - - 1 Stéphanie Cornelis
+?/. 13 c.1927G>A r.(?) p.(Val643Met) Unknown - likely pathogenic (recessive) g.94528143C>T g.94062587C>T c.1927G>A, p.Val643Met Heterozygous - ABCA4_000076 - PubMed: Goetz 2020 - - Unknown - 196, 121108, 1, 0.001618 - - - DNA SEQ - - retinal disease 6327-7790 PubMed: Goetz 2020 - - ? - - - - - - 1 Stéphanie Cornelis
+?/. 13 c.1927G>A r.(?) p.(Val643Met) Unknown - likely pathogenic (recessive) g.94528143C>T g.94062587C>T c.1927G>A,p.Val643Met - ABCA4_000076 - PubMed: Fujinami 2019 - - Unknown - - - - - DNA SEQ-NG - SEQ-NG (143 cases), APEX (44 cases), SSCP (24 cases), SEQ (134) retinal disease 12050 PubMed: Fujinami 2019 191 F, 154 M in this study - ? United States - - - - - 1 Stéphanie Cornelis
+?/. 13 c.1927G>A r.(?) p.(Val643Met) Parent #2 - likely pathogenic (recessive) g.94528143C>T g.94062587C>T c.1927G>A p.(Val643Met) - ABCA4_000076 no segregation analysis done PubMed: Nassisi 2018 - - Unknown - - - - - DNA PE, SEQ - APEX retinal disease CIC07744 PubMed: Nassisi 2018 - - ? France - - - - - 1 Stéphanie Cornelis
+?/. 13 c.1927G>A r.(?) p.(Val643Met) Parent #1 - likely pathogenic (recessive) g.94528143C>T g.94062587C>T c.1927G>A (p.V643M) c.3602T>G (p.L1201R) - ABCA4_000076 - PubMed: Wang 2014 - - Germline - - - - - DNA SEQ-NG-I - - retinal disease 2 PubMed: Wang 2014 - F ? United States - - - - - 1 Stéphanie Cornelis
+?/. 13 c.1927G>A r.(?) p.(Val643Met) Unknown - likely pathogenic (recessive) g.94528143C>T g.94062587C>T c.1927G>A, p.Val643Met Heterozygous - ABCA4_000076 - PubMed: Goetz 2020 - - Unknown - 196, 121108, 1, 0.001618 - - - DNA SEQ - - retinal disease 1351-1917 PubMed: Goetz 2020 1351 is a family member of 1350 - ? - - - - - - 1 Stéphanie Cornelis
+?/. 13 c.1927G>A r.(?) p.(Val643Met) Unknown - likely pathogenic (recessive) g.94528143C>T g.94062587C>T c.1927G>A, p.Val643Met Heterozygous - ABCA4_000076 - PubMed: Goetz 2020 - - Unknown - 196, 121108, 1, 0.001618 - - - DNA SEQ-NG-I - solid state SBS retinal disease 1739-2314 PubMed: Goetz 2020 - - ? - - - - - - 1 Stéphanie Cornelis
+?/. 13 c.1927G>A r.(?) p.(Val643Met) Unknown - likely pathogenic (recessive) g.94528143C>T g.94062587C>T c.1927G>A, p.Val643Met Heterozygous - ABCA4_000076 - PubMed: Goetz 2020 - - Unknown - 196, 121108, 1, 0.001618 - - - DNA SEQ - - retinal disease 236-1642 PubMed: Goetz 2020 - - ? - - - - - - 1 Stéphanie Cornelis
+?/. 13 c.1927G>A r.(?) p.(Val643Met) Unknown - likely pathogenic (recessive) g.94528143C>T g.94062587C>T c.1927G>A, p.Val643Met Heterozygous - ABCA4_000076 - PubMed: Goetz 2020 - - Unknown - 196, 121108, 1, 0.001618 - - - DNA SEQ-NG-I - solid state SBS retinal disease 2970-3677 PubMed: Goetz 2020 - - ? - - - - - - 1 Stéphanie Cornelis
+?/. 13 c.1927G>A r.(?) p.(Val643Met) Unknown - likely pathogenic (recessive) g.94528143C>T g.94062587C>T c.1927G>A, p.Val643Met Heterozygous - ABCA4_000076 - PubMed: Goetz 2020 - - Unknown - 196, 121108, 1, 0.001618 - - - DNA SEQ-NG-I - solid state SBS retinal disease 3287-4031 PubMed: Goetz 2020 - - ? - - - - - - 1 Stéphanie Cornelis
+?/. 13 c.1927G>A r.(?) p.(Val643Met) Unknown - likely pathogenic (recessive) g.94528143C>T g.94062587C>T c.1927G>A, p.Val643Met Heterozygous - ABCA4_000076 - PubMed: Goetz 2020 - - Unknown - 196, 121108, 1, 0.001618 - - - DNA SEQ - - retinal disease 4030-4907 PubMed: Goetz 2020 - - ? - - - - - - 1 Stéphanie Cornelis
+?/. 13 c.1927G>A r.(?) p.(Val643Met) Unknown - likely pathogenic (recessive) g.94528143C>T g.94062587C>T c.1927G>A, p.(Val643Met) Heterozygous - ABCA4_000076 - PubMed: Goetz 2020 - - Unknown - 196, 121108, 1, 0.001618 - - - DNA SEQ - - retinal disease 4176-5080 PubMed: Goetz 2020 - - ? - - - - - - 1 Stéphanie Cornelis
+?/. 13 c.1927G>A r.(?) p.(Val643Met) Unknown - likely pathogenic (recessive) g.94528143C>T g.94062587C>T c.1927G>A, p.Val643Met Heterozygous - ABCA4_000076 - PubMed: Goetz 2020 - - Unknown - 196, 121108, 1, 0.001618 - - - DNA SEQ-NG-I - solid state SBS retinal disease 4418-6227 PubMed: Goetz 2020 - - ? - - - - - - 1 Stéphanie Cornelis
+?/. 13 c.1927G>A r.(?) p.(Val643Met) Unknown - likely pathogenic (recessive) g.94528143C>T g.94062587C>T c.1927G>A, p.Val643Met Heterozygous - ABCA4_000076 - PubMed: Goetz 2020 - - Unknown - 196, 121108, 1, 0.001618 - - - DNA SEQ-NG-I - solid state SBS retinal disease 5043-6997 PubMed: Goetz 2020 - - ? - - - - - - 1 Stéphanie Cornelis
+?/. 13 c.1927G>A r.(?) p.(Val643Met) Unknown - likely pathogenic (recessive) g.94528143C>T g.94062587C>T c.1927G>A, p.Val643Met heterozygous - ABCA4_000076 - PubMed: Goetz 2020 - - Unknown - 196, 121108, 1, 0.001618 - - - DNA arraySEQ, SEQ - Gene Chip retinal disease 58-724 PubMed: Goetz 2020 - - ? - - - - - - 1 Stéphanie Cornelis
+?/. 13 c.1927G>A r.(?) p.(Val643Met) Unknown - likely pathogenic g.94528143C>T - c.1927G>A - ABCA4_000076 - PubMed: Eisenberger-2013 - rs61749417 Germline - - - - - DNA SEQ-NG-I, SEQ-NG-R, SEQ blood - retinal disease - PubMed: Eisenberger-2013 - F ? Saudi Arabia - - - - - 1 LOVD
+?/. 13 c.1927G>A r.(?) p.(Val643Met) Unknown - likely pathogenic g.94528143C>T - c.1927G>A - ABCA4_000076 - PubMed: Eisenberger-2013 - rs143548435 Germline - - - - - DNA SEQ-NG-I, SEQ-NG-R, SEQ blood - retinal disease - PubMed: Eisenberger-2013 - F yes - North Afrika - - - - 1 LOVD
-/. - c.1927G>A r.(?) p.(Val643Met) Unknown - benign g.94528143C>T - ABCA4(NM_000350.3):c.1927G>A (p.V643M) - ABCA4_000076 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 13 c.1927G>A r.(?) p.(Val643Met) Unknown - likely pathogenic (recessive) g.94528143C>T - c.1927G>A - ABCA4_000076 unknown variant 2nd chromosome PubMed: Khan 2020 - - Unknown ? - - - - DNA MIPsm - smMIPs-based complete ABCA4 gene retinal disease 70685 PubMed: Khan 2020 - F - South Africa - - - - - 1 LOVD
+?/. 13 c.1927G>A r.(?) p.(Val643Met) Unknown - likely pathogenic (recessive) g.94528143C>T - c.1927G>A - ABCA4_000076 - PubMed: Khan 2020 - - Unknown - - - - - DNA MIPsm - smMIPs-based complete ABCA4 gene retinal disease 71103 PubMed: Khan 2020 - M - Brazil - - - - - 1 LOVD
+?/. 13 c.1927G>A r.(?) p.(Val643Met) Maternal (confirmed) - likely pathogenic g.94528143C>T g.94062587C>T - - ABCA4_000076 - - - - Germline - - - - - DNA SEQ-NG - - STGD F9:II.1 - - M no Lebanon - - - - - 1 Said El Shamieh
-?/. - c.1927G>A r.(?) p.(Val643Met) Unknown - likely benign g.94528143C>T g.94062587C>T - - ABCA4_000076 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Germline/De novo (untested) - - - - - DNA SEQ - - retinal disease MEH-nonmild-274 PubMed: Cornelis 2024, Journal: Cornelis 2024 - F - United Kingdom (Great Britain) - - - - - 1 Stéphanie Cornelis
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