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.

12 entries on 1 page. Showing entries 1 - 12.
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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     
+?/. 17 c.2609C>T r.(?) p.(Pro870Leu) Unknown - likely pathogenic g.94517233G>A g.94051677G>A c.2609 C>T - ABCA4_000706 - PubMed: Zaneveld 2015 - - Germline - 1, 120440, 0, 0.000008303 - - - DNA SEQ-NG-I, SEQ, arrayCGH - - STGD1 - PubMed: Zaneveld 2015 c.6089 G>A was also identified in this patient ? ? Canada French Canadian - - - - 1 Stéphanie Cornelis
+?/. 17 c.2609C>T r.(2609c>u) p.(Pro870Leu) Parent #1 ACMG likely pathogenic (recessive) g.94517233G>A g.94051677G>A - - ABCA4_000706 - PubMed: Cornelis 2017, Journal: Cornelis 2017, Journal: Cornelis 2023 - - SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 17 c.2609C>T r.(?) p.(Pro870Leu) Unknown - likely pathogenic (recessive) g.94517233G>A g.94051677G>A c.2609C>T p.(P870L) - ABCA4_000706 no variant 2nd chromosome PubMed: Schulz 2017 - - Unknown - - - - - DNA arraySEQ, SEQ-NG - RetChip retinal disease Unknown 432 PubMed: Schulz 2017 191 F, 144 M in this study - ? Germany - - - - - 1 Stéphanie Cornelis
+?/. 17 c.2609C>T r.(?) p.(Pro870Leu) Unknown - likely pathogenic (recessive) g.94517233G>A g.94051677G>A c.2609C>T/p.P870L - ABCA4_000706 no segregation analysis done PubMed: Weisschuh 2020 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease 479 PubMed: Weisschuh 2020 - F ? Germany - - - - - 1 Stéphanie Cornelis
+?/. 17 c.2609C>T r.(?) p.(Pro870Leu) Unknown - likely pathogenic (recessive) g.94517233G>A g.94051677G>A c.2609C>T, p.Pro870Leu Heterozygous - ABCA4_000706 - PubMed: Goetz 2020 - - Unknown - 1, 120440, 0, 0.000008303 - - - DNA arraySEQ, SEQ - Gene Chip retinal disease 548-1062 PubMed: Goetz 2020 - - ? - - - - - - 1 Stéphanie Cornelis
+?/. 17 c.2609C>T r.(?) p.(Pro870Leu) Unknown - likely pathogenic (recessive) g.94517233G>A g.94051677G>A c.2609C>T,p.Pro870Leu - ABCA4_000706 - PubMed: Fujinami 2019 - - Unknown - - - - - DNA SEQ-NG - SEQ-NG (143 cases), APEX (44 cases), SSCP (24 cases), SEQ (134) retinal disease 12020 PubMed: Fujinami 2019 191 F, 154 M in this study - ? United States - - - - - 1 Stéphanie Cornelis
+?/. 17 c.2609C>T r.(?) p.(Pro870Leu) Unknown - likely pathogenic (recessive) g.94517233G>A g.94051677G>A c.2609C>T p.Pro870Leu het - ABCA4_000706 - Prevention Genetics - - Unknown - - - - - DNA SEQ - ABCA4 retinal disease 2014-057-032 Prevention Genetics - - ? - white - - - - 1 Stéphanie Cornelis
+?/. 17 c.2609C>T r.(?) p.(Pro870Leu) Unknown - likely pathogenic (recessive) g.94517233G>A g.94051677G>A c.2609C>T p.Pro870Leu het - ABCA4_000706 - Prevention Genetics - - Unknown - - - - - DNA SEQ-NG - ABCA4 Panel retinal disease 2017-024-069 Prevention Genetics - - ? - German, Itallian, Polish - - - - 1 Stéphanie Cornelis
+?/. 17 c.2609C>T r.(?) p.(Pro870Leu) Unknown - likely pathogenic (recessive) g.94517233G>A g.94051677G>A c.2609C>T, p.Pro870Leu Heterozygous - ABCA4_000706 - PubMed: Goetz 2020 - - Unknown - 1, 120440, 0, 0.000008303 - - - DNA SEQ-NG-I - solid state SBS retinal disease 5676-6853 PubMed: Goetz 2020 - - ? - - - - - - 1 Stéphanie Cornelis
+?/. - c.2609C>T r.(?) p.(Pro870Leu) Parent #1 - likely pathogenic (recessive) g.94517233G>A g.94051677G>A - - ABCA4_000706 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Germline yes - - - - DNA SEQ-NG - - retinal disease L-1008 PubMed: Cornelis 2024, Journal: Cornelis 2024 - M - France - - - - - 1 Frans Cremers
+?/. - c.2609C>T r.(?) p.(Pro870Leu) Unknown - likely pathogenic (recessive) g.94517233G>A g.94051677G>A - - ABCA4_000706 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Unknown - - - - - DNA SEQ-NG - - retinal disease L-1043 PubMed: Cornelis 2024, Journal: Cornelis 2024 - F - France - - - - - 1 Frans Cremers
+?/. - c.2609C>T r.(?) p.(Pro870Leu) Unknown - likely pathogenic (recessive) g.94517233G>A g.94051677G>A - - ABCA4_000706 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Germline/De novo (untested) - - - - - DNA SEQ - - retinal disease MEH-nonmild-425 PubMed: Cornelis 2024, Journal: Cornelis 2024 - M - United Kingdom (Great Britain) - - - - - 1 Stéphanie Cornelis
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