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.

11 entries on 1 page. Showing entries 1 - 11.
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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     
+?/. 11 c.1519G>T r.(?) p.(Asp507Tyr) Unknown - likely pathogenic g.94543281C>A g.94077725C>A c.1519G>T - ABCA4_000309 - PubMed: Zhao 2015 - - Germline ? ExAC 1, 121136, 0, 0.000008255 - - - DNA SEQ-NG-I, PCR, SEQ - - retinal disease - PubMed: Zhao 2015 - ? ? Northern Ireland ? - - - - 1 Stéphanie Cornelis
+/. 11 c.1519G>T r.(?) p.(Asp507Tyr) Unknown - pathogenic g.94543281C>A g.94077725C>A c.1519G>T - ABCA4_000309 - PubMed: Fujinami 2013 - - Germline ? 1, 121136, 0, 0.000008255 - - - DNA PE, PCR, SEQ, SEQ-NG-R - APEX ? - PubMed: Fujinami 2013 - ? ? United Kingdom (Great Britain) ? - - - - 1 Stéphanie Cornelis
+?/. 11 c.1519G>T r.(1519g>u) p.(Asp507Tyr) Parent #1 ACMG likely pathogenic (recessive) g.94543281C>A g.94077725C>A - - ABCA4_000309 - PubMed: Cornelis 2017, Journal: Cornelis 2017, Journal: Cornelis 2023 - - SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 11 c.1519G>T r.(?) p.(Asp507Tyr) Unknown - likely pathogenic (recessive) g.94543281C>A g.94077725C>A c.1519G>T, p.Asp507Tyr Heterozygous - ABCA4_000309 - PubMed: Goetz 2020 - - Unknown - 1, 121136, 0, 0.000008255 - - - DNA SEQ - - retinal disease 5977-7499 PubMed: Goetz 2020 - - ? - - - - - - 1 Stéphanie Cornelis
+?/. 11 c.1519G>T r.(?) p.(Asp507Tyr) Unknown - likely pathogenic (recessive) g.94543281C>A g.94077725C>A c.1519G>T p.Asp507Tyr het - ABCA4_000309 - Prevention Genetics - - Unknown - - - - - DNA SEQ-NG - STGDMD panel retinal disease 2017-125-158 Prevention Genetics - - ? - - - - - - 1 Stéphanie Cornelis
+?/. 11 c.1519G>T r.(?) p.(Asp507Tyr) Parent #1 ACMG likely pathogenic (recessive) g.94543281C>A g.94077725C>A - - ABCA4_000309 - PubMed: Corradi 2023, Journal: Corradi 2023 - - Germline - - - - - DNA MIPsm, SEQ-NG - - retinal disease Pat191 PubMed: Corradi 2023, Journal: Corradi 2023 - F - - - - - - - 1 Zelia Corradi
+?/. 11 c.1519G>T r.(?) p.(Asp507Tyr) Parent #1 ACMG likely pathogenic (recessive) g.94543281C>A g.94077725C>A - - ABCA4_000309 - PubMed: Corradi 2023, Journal: Corradi 2023 - - Germline - - - - - DNA MIPsm, SEQ-NG - - retinal disease Pat255 PubMed: Corradi 2023, Journal: Corradi 2023 - F - - - - - - - 1 Zelia Corradi
+?/. - c.1519G>T r.(?) p.(Asp507Tyr) Parent #1 - likely pathogenic (recessive) g.94543281C>A g.94077725C>A - - ABCA4_000309 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Germline yes - - - - DNA SEQ-NG - - retinal disease L-1004 PubMed: Cornelis 2024, Journal: Cornelis 2024 - M - France - - - - - 1 Frans Cremers
+?/. - c.1519G>T r.(?) p.(Asp507Tyr) Unknown - likely pathogenic (recessive) g.94543281C>A g.94077725C>A - - ABCA4_000309 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Germline/De novo (untested) - - - - - DNA SEQ - - retinal disease MEH-nonmild-99 PubMed: Cornelis 2024, Journal: Cornelis 2024 - F - United Kingdom (Great Britain) - - - - - 1 Stéphanie Cornelis
+?/. - c.1519G>T r.(?) p.(Asp507Tyr) Unknown - likely pathogenic (recessive) g.94543281C>A g.94077725C>A - - ABCA4_000309 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Germline/De novo (untested) - - - - - DNA SEQ - - retinal disease MEH-nonmild-254 PubMed: Cornelis 2024, Journal: Cornelis 2024 - F - United Kingdom (Great Britain) - - - - - 1 Stéphanie Cornelis
+?/. - c.1519G>T r.(?) p.(Asp507Tyr) Unknown - likely pathogenic (recessive) g.94543281C>A g.94077725C>A - - ABCA4_000309 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Germline/De novo (untested) - - - - - DNA SEQ - - retinal disease MEH-nonmild-433 PubMed: Cornelis 2024, Journal: Cornelis 2024 - F - United Kingdom (Great Britain) - - - - - 1 Stéphanie Cornelis
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