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     

Country     

Population     

Age at death     

VIP     

Data_av     

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Owner     
?/. 6 c.666_678del r.(?) p.(Lys223Metfs*14) Unknown - VUS g.94564442_94564454del g.94098886_94098898del 666del[AAAGACGGTGCGC] - ABCA4_000377 - PubMed: Briggs 2001 - - Germline - - - - - DNA SSCA, SEQ - - STGD1 - PubMed: Briggs 2001 - ? ? - ? - - - - 1 Stéphanie Cornelis
?/. 6 c.666_678del r.(?) p.(Lys223Metfs*14) Unknown - VUS g.94564442_94564454del g.94098886_94098898del 666del[AAAGACGGTGCGC] - ABCA4_000377 - PubMed: Briggs 2001 - - Germline - - - - - DNA SSCA, SEQ - - STGD1 - PubMed: Briggs 2001 - ? ? - ? - - - - 1 Stéphanie Cornelis
?/. 6 c.666_678del r.(?) p.(Lys223Metfs*14) Unknown - VUS g.94564442_94564454del g.94098886_94098898del 666delAAAGACGGTGC - ABCA4_000377 - PubMed: Webster 2001 - - Germline - - - - - 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
?/. 6 c.666_678del r.(?) p.(Lys223Metfs*14) Unknown - VUS g.94564442_94564454del g.94098886_94098898del 664del13 - ABCA4_000377 - PubMed: Shroyer 2001 - - Germline - - - - - DNA PCR, SEQ - - STGD1 - PubMed: Lewis 1999 3-generation family, 1 affected F ? - ? - - - - 1 Stéphanie Cornelis
?/. 6 c.666_678del r.(?) p.(Lys223Metfs*14) Unknown - VUS g.94564442_94564454del g.94098886_94098898del c.666del13 - ABCA4_000377 - PubMed: Rosenberg 2007 - - Germline - - - - - DNA PCR, SSCA, PE, SEQ - APEX ? - PubMed: Rosenberg 2007 Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome. ? no - ? - - - - 1 Stéphanie Cornelis
?/. 6 c.666_678del r.(?) p.(Lys223Metfs*14) Unknown - VUS g.94564442_94564454del g.94098886_94098898del c.666del13 - ABCA4_000377 - PubMed: Rosenberg 2007 - - Germline - - - - - DNA PCR, SSCA, PE, SEQ - APEX ? - PubMed: Rosenberg 2007 Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome. ? no - ? - - - - 1 Stéphanie Cornelis
?/. 6 c.666_678del r.(?) p.(Lys223Metfs*14) Unknown - VUS g.94564442_94564454del g.94098886_94098898del c.666del13 - ABCA4_000377 - PubMed: Rosenberg 2007 - - Germline - - - - - DNA PCR, SSCA, PE, SEQ - APEX ? - PubMed: Rosenberg 2007 Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome. ? no - ? - - - - 1 Stéphanie Cornelis
+/. 6 c.666_678del r.(666_678del) p.(Lys223MetfsTer14) Parent #1 ACMG pathogenic (recessive) g.94564442_94564454del g.94098886_94098898del - - ABCA4_000377 - PubMed: Cornelis 2017, Journal: Cornelis 2017, Journal: Cornelis 2023 - - SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
+/. 6 c.666_678del r.(?) p.(Lys223Metfs*14) Unknown - pathogenic (recessive) g.94564442_94564454del g.94098886_94098898del c.666_678del p.K223_R226delfs - ABCA4_000377 - PubMed: Bertelsen 2014 - - Unknown - - - - - DNA PE - APEX retinal disease D001 PubMed: Bertelsen 2014 - F ? Denmark - - - - - 1 Stéphanie Cornelis
+/. 6 c.666_678del r.(?) p.(Lys223Metfs*14) Unknown - pathogenic (recessive) g.94564442_94564454del g.94098886_94098898del c.666_678del p.K223_R226delfs - ABCA4_000377 - PubMed: Bertelsen 2014 - - Unknown - - - - - DNA PE - APEX retinal disease D107 PubMed: Bertelsen 2014 - F ? Denmark - - - - - 1 Stéphanie Cornelis
+/. 6 c.666_678del r.(?) p.(Lys223Metfs*14) Unknown - pathogenic (recessive) g.94564442_94564454del g.94098886_94098898del c.666_678del (p.Lys223_Arg226delfs) - ABCA4_000377 no segregation analysis done PubMed: Zernant 2017 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease 3151 PubMed: Zernant 2017 - - ? United States - - - - - 1 Stéphanie Cornelis
+/. 6 c.666_678del r.(?) p.(Lys223Metfs*14) Parent #1 - pathogenic (recessive) g.94564442_94564454del g.94098886_94098898del c.666_678del (p.Lys223_Arg226delfs) - ABCA4_000377 - PubMed: Zernant 2017 - - Unknown yes - - - - DNA SEQ-NG-I - - retinal disease 3788 PubMed: Zernant 2017 - - ? United States - - - - - 1 Stéphanie Cornelis
+/. 6 c.666_678del r.(?) p.(Lys223Metfs*14) Unknown - pathogenic (recessive) g.94564442_94564454del g.94098886_94098898del c.666_678del13 p.Lys223Metfs*14 Het - ABCA4_000377 - Prevention Genetics - - Unknown - - - - - DNA SEQ-NG - CRD panel retinal disease 2015-135-050 Prevention Genetics - - ? - - - - - - 1 Stéphanie Cornelis
+/. 6 c.666_678del r.(?) p.(Lys223Metfs*14) Unknown - pathogenic (recessive) g.94564442_94564454del g.94098886_94098898del c.666_678del13 p.Lys223Metfs*14 het - ABCA4_000377 - Prevention Genetics - - Unknown - - - - - DNA SEQ-NG - STGDMD panel retinal disease 2017-087-036 Prevention Genetics - - ? - white - - - - 1 Stéphanie Cornelis
+/. 6 c.666_678del r.(?) p.(Lys223Metfs*14) Unknown - pathogenic (recessive) g.94564442_94564454del g.94098886_94098898del c.666_678del13, p.Lys223Metfs*14 Heterozygous - ABCA4_000377 no variant 2nd chromosome PubMed: Goetz 2020 - - Unknown - - - - - DNA SEQ - - retinal disease 1838-2457 PubMed: Goetz 2020 - - ? - - - - - - 1 Stéphanie Cornelis
+/. 6 c.666_678del r.(?) p.(Lys223Metfs*14) Unknown - pathogenic (recessive) g.94564442_94564454del g.94098886_94098898del c.666_678del13, p.Lys223Metfs*14 Heterozygous - ABCA4_000377 no variant 2nd chromosome PubMed: Goetz 2020 - - Unknown - - - - - DNA SEQ - - retinal disease 1905-3395 PubMed: Goetz 2020 - - ? - - - - - - 1 Stéphanie Cornelis
+/. 6 c.666_678del r.(?) p.(Lys223Metfs*14) Unknown - pathogenic (recessive) g.94564442_94564454del g.94098886_94098898del c.666_678del13, p.Lys223Metfs*14 Heterozygous - ABCA4_000377 no variant 2nd chromosome PubMed: Goetz 2020 - - Unknown - - - - - DNA SEQ-NG-I - solid state SBS retinal disease 1906-3395 PubMed: Goetz 2020 1906 is a family member of 1905 - ? - - - - - - 1 Stéphanie Cornelis
+/. 6 c.666_678del r.(?) p.(Lys223Metfs*14) Unknown - pathogenic (recessive) g.94564442_94564454del g.94098886_94098898del c.666_678del13, p.Lys223Metfs*14 Heterozygous - ABCA4_000377 no variant 2nd chromosome PubMed: Goetz 2020 - - Unknown - - - - - DNA SEQ - - retinal disease 3660-5348 PubMed: Goetz 2020 - - ? - - - - - - 1 Stéphanie Cornelis
+/. 6 c.666_678del r.(?) p.(Lys223Metfs*14) Unknown - pathogenic (recessive) g.94564442_94564454del g.94098886_94098898del c.666del13 p.222fs - ABCA4_000377 - PubMed: Fakin 2016 - - Unknown - - - - - DNA ? - - retinal disease 14447 PubMed: Fakin 2016 - - ? United Kingdom (Great Britain) - - - - - 1 Stéphanie Cornelis
+/. 6 c.666_678del r.(?) p.(Lys223Metfs*14) Unknown - pathogenic (recessive) g.94564442_94564454del g.94098886_94098898del c.666_678del13, p.Lys223Metfs*14 Heterozygous - ABCA4_000377 - PubMed: Goetz 2020 - - Unknown - - - - - DNA SEQ-NG-I - solid state SBS retinal disease 1072-2504 PubMed: Goetz 2020 - - ? - - - - - - 1 Stéphanie Cornelis
+/. 6 c.666_678del r.(?) p.(Lys223Metfs*14) Unknown - pathogenic (recessive) g.94564442_94564454del g.94098886_94098898del c.666_678del13, p.Lys223Metfs*14 Heterozygous - ABCA4_000377 - PubMed: Goetz 2020 - - Unknown - - - - - DNA SEQ-NG-I - solid state SBS retinal disease 1646-2206 PubMed: Goetz 2020 - - ? - - - - - - 1 Stéphanie Cornelis
+/. 6 c.666_678del r.(?) p.(Lys223Metfs*14) Unknown - pathogenic (recessive) g.94564442_94564454del g.94098886_94098898del c.666delAAAGACGGTGCGC, p.Ala222fs Heterozygous - ABCA4_000377 - PubMed: Goetz 2020 - - Unknown - - - - - DNA SEQ - - retinal disease 333-1714 PubMed: Goetz 2020 - - ? - - - - - - 1 Stéphanie Cornelis
+/. - c.666_678del r.(?) p.(Lys223MetfsTer14) Parent #1 - pathogenic (recessive) g.94564442_94564454del g.94098886_94098898del - - ABCA4_000377 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Germline yes - - - - DNA SEQ-NG - - retinal disease L-1005 PubMed: Cornelis 2024, Journal: Cornelis 2024 - M - France - - - - - 1 Frans Cremers
+/. - c.666_678del r.(?) p.(Lys223MetfsTer14) Unknown - pathogenic (recessive) g.94564442_94564454del g.94098886_94098898del - - ABCA4_000377 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Germline/De novo (untested) - - - - - DNA SEQ - - retinal disease MEH-other-12 PubMed: Cornelis 2024, Journal: Cornelis 2024 family, 2 affected F - United Kingdom (Great Britain) - - - - - 2 Stéphanie Cornelis
+/. - c.666_678del r.(?) p.(Lys223MetfsTer14) Unknown - pathogenic (recessive) g.94564442_94564454del g.94098886_94098898del - - ABCA4_000377 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Germline/De novo (untested) - - - - - DNA SEQ - - retinal disease MEH-nonmild-44 PubMed: Cornelis 2024, Journal: Cornelis 2024 relative of MEH-other-12 M - United Kingdom (Great Britain) - - - - - 1 Stéphanie Cornelis
+/. - c.666_678del r.(?) p.(Lys223MetfsTer14) Unknown - pathogenic (recessive) g.94564442_94564454del g.94098886_94098898del - - ABCA4_000377 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Germline/De novo (untested) - - - - - DNA SEQ - - retinal disease MEH-other-22 PubMed: Cornelis 2024, Journal: Cornelis 2024 relative of MEH-mild-42 M - United Kingdom (Great Britain) - - - - - 1 Stéphanie Cornelis
+/. 6 c.666_678del r.(?) p.(Lys223MetfsTer14) Parent #1 ACMG pathogenic g.94564442_94564454del g.94098886_94098898del - - ABCA4_000377 - PubMed: Hitti-Malin 2024, Journal: Hitti-Malin 2024 - - Germline - - - - - DNA SEQ, SEQ-NG - smMIP-based 105 iMD/AMD genes macular dystrophy 072796 PubMed: Hitti-Malin 2024, Journal: Hitti-Malin 2024 - F - - - - - - - 1 Rebekkah Hitti-Malin
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