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.

15 entries on 1 page. Showing entries 1 - 15.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Allele     

Classification method     

Clinical classification     

DNA change (genomic) (hg19)     

DNA change (hg38)     

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ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Template     

Technique     

Tissue     

Remarks     

Disease     

ID_report     

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Gender     

Consanguinity     

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Age at death     

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Data_av     

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Panel size     

Owner     
+?/. 47 c.6410G>A r.(?) p.(Cys2137Tyr) Unknown - likely pathogenic g.94466461C>T g.94000905C>T c.6410G>A - ABCA4_000825 - PubMed: Riveiro-Alvarez 2013, PubMed: Aguirre-Lamban 2009 - - Germline ? - - - - DNA PE, DHPLC, MCA, SEQ, MLPA, SEQ-NG - APEX CORD - PubMed: Riveiro-Alvarez 2013, PubMed: Aguirre-Lamban 2009 - ? ? Spain ? - - - - 1 Stéphanie Cornelis
+?/. 47 c.6410G>A r.(?) p.(Cys2137Tyr) Unknown - likely pathogenic g.94466461C>T g.94000905C>T c.6410G>A - ABCA4_000825 - PubMed: Riveiro-Alvarez 2013, PubMed: Aguirre-Lamban 2009 - - Germline ? - - - - DNA PE, DHPLC, MCA, SEQ, MLPA, SEQ-NG - APEX STGD1 - PubMed: Riveiro-Alvarez 2013, PubMed: Aguirre-Lamban 2009 - ? ? Spain ? - - - - 1 Stéphanie Cornelis
+?/. 47 c.6410G>A r.(?) p.(Cys2137Tyr) Both (homozygous) - likely pathogenic g.94466461C>T g.94000905C>T c.6410G>A - ABCA4_000825 - PubMed: Riveiro-Alvarez 2013 - - Germline ? - - - - DNA PE, DHPLC, MCA, SEQ, MLPA, SEQ-NG - APEX STGD1 - PubMed: Riveiro-Alvarez 2013 - ? ? Spain ? - - - - 1 Stéphanie Cornelis
+/. 47 c.6410G>A r.(6410g>a) p.(Cys2137Tyr) Parent #1 ACMG pathogenic (recessive) g.94466461C>T g.94000905C>T - - ABCA4_000825 - PubMed: Cornelis 2017, Journal: Cornelis 2017, Journal: Cornelis 2023 - - SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.6410G>A r.(?) p.(Cys2137Tyr) Maternal (confirmed) - likely pathogenic g.94466461C>T g.94000905C>T - - ABCA4_000825 - PubMed: de Castro-Miró 2014 - - Germline yes - - - - DNA SEQ-NG-I Whole blood - CORD - PubMed: de Castro-Miró 2014 - M - Croatia (Hrvatska) - - - - - 1 Marta de Castro-Miró
+?/. 47 c.6410G>A r.(?) p.(Cys2137Tyr) Unknown ACMG likely pathogenic g.94466461C>T - - - ABCA4_000825 - Mena et al., 2020 submitted - - Germline ? - - - - DNA SEQ-NG-IT blood gene panel (ABCA4, CNGB3, ELOVL4, PROM1) STGD1 - Mena et al., 2020 submitted. - F no Argentina - - - - - 1 Marcela Mena
+?/. 47 c.6410G>A r.(?) p.(Cys2137Tyr) Parent #1 - likely pathogenic (recessive) g.94466461C>T g.94000905C>T Codon 2137 TGT-TAT Cys-Tyr - ABCA4_000825 no variant 2nd chromosome PubMed: Aguirre-Lambán 2008 - - Unknown - - - - - DNA PE, SEQ - APEX retinal disease Unknown 215 PubMed: Aguirre-Lambán 2008 - - ? Spain - - - - - 1 Stéphanie Cornelis
+?/. 47 c.6410G>A r.(?) p.(Cys2137Tyr) Unknown - likely pathogenic (recessive) g.94466461C>T g.94000905C>T c.6410G>A p.(Cys2137Tyr) - ABCA4_000825 - PubMed: Del Pozo-Valero 2020 - - Germline - - - - - DNA SEQ-NG - - retinal disease MD-0740 PubMed: Del Pozo-Valero 2020 - - ? Spain - - - - - 1 Stéphanie Cornelis
+?/. 47 c.6410G>A r.(?) p.(Cys2137Tyr) Unknown - likely pathogenic (recessive) g.94466461C>T g.94000905C>T c.6410G.A p.C2137Y - ABCA4_000825 - PubMed: de Castro-Miró 2014 - - Unknown - - - - - DNA SEQ, SEQ-NG - WES retinal disease 93RE PubMed: de Castro-Miró 2014 Two siblings affected in total - ? - Spain - - - - 1 Stéphanie Cornelis
+?/. 47 c.6410G>A r.(?) p.(Cys2137Tyr) Unknown - likely pathogenic (recessive) g.94466461C>T g.94000905C>T c.6410G>A p.(Cys2137Tyr) - ABCA4_000825 - PubMed: Del Pozo-Valero 2020 - - Germline - - - - - DNA SEQ-NG - - retinal disease MD-0723 PubMed: Del Pozo-Valero 2020 - - ? Spain - - - - - 1 Stéphanie Cornelis
+?/. 47 c.6410G>A r.(?) p.(Cys2137Tyr) Unknown - likely pathogenic (recessive) g.94466461C>T g.94000905C>T c.6410G>A p.(Cys2137Tyr) - ABCA4_000825 - PubMed: Del Pozo-Valero 2020 - - Germline - - - - - DNA SEQ-NG - - retinal disease MD-1001 PubMed: Del Pozo-Valero 2020 - - ? Spain - - - - - 1 Stéphanie Cornelis
+?/. 47 c.6410G>A r.(?) p.(Cys2137Tyr) Parent #2 - likely pathogenic (recessive) g.94466461C>T g.94000905C>T c.6410G>A p.(Cys2137Tyr) - ABCA4_000825 - PubMed: Del Pozo-Valero 2020 - - Germline yes - - - - DNA SEQ-NG - - retinal disease MD-1146 PubMed: Del Pozo-Valero 2020 - - ? Spain - - - - - 1 Stéphanie Cornelis
+?/. 47 c.6410G>A r.(?) p.(Cys2137Tyr) Unknown - likely pathogenic g.94466461C>T - c.6410G>A - ABCA4_000825 - PubMed: de Castro-Miró-2014 - - Germline - - - - - DNA arraySNP - RD-xip retinal disease 17NCE PubMed: de Castro-Miró-2014 - - - - - - - - - 1 LOVD
+/. - c.6410G>A r.(?) p.(Cys2137Tyr) Unknown - pathogenic (recessive) g.94466461C>T g.94000905C>T - - ABCA4_000825 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Unknown - - - - - DNA SEQ-NG - - retinal disease L-0250 PubMed: Cornelis 2024, Journal: Cornelis 2024 - F - France - - - - - 1 Frans Cremers
+/. - c.6410G>A r.(?) p.(Cys2137Tyr) Parent #2 - pathogenic (recessive) g.94466461C>T g.94000905C>T - - ABCA4_000825 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Germline yes - - - - DNA DHPLC, SEQ - - retinal disease L-0844 PubMed: Cornelis 2024, Journal: Cornelis 2024 - M - France - - - - - 1 Frans Cremers
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