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.

8 entries on 1 page. Showing entries 1 - 8.
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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     
+?/. - c.6166A>T r.(?) p.(Lys2056*) Parent #2 - likely pathogenic g.94467530T>A g.94001974T>A - - ABCA4_001448 - PubMed: Stone 2017 - - Germline - - - - - DNA SEQ-NG - - retinal disease 784 PubMed: Stone 2017 1 affected M - (United States) - - - - - 1 LOVD
+/. 45 c.6166A>T r.(?) p.(Lys2056*) Unknown - pathogenic (recessive) g.94467530T>A g.94001974T>A c.6166A>T (p.Lys2056*) - ABCA4_001448 no segregation analysis done PubMed: Zernant 2017 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease 3361 PubMed: Zernant 2017 - - ? United States - - - - - 1 Stéphanie Cornelis
+/. 45 c.6166A>T r.(?) p.(Lys2056*) Unknown - pathogenic (recessive) g.94467530T>A g.94001974T>A c.6166A>T, p.K2056X heterozygous - ABCA4_001448 - PubMed: Goetz 2020 - - Unknown - - - - - DNA arraySEQ, SEQ - Gene Chip retinal disease 6075-605 PubMed: Goetz 2020 - - ? - - - - - - 1 Stéphanie Cornelis
+/. 45 c.6166A>T r.(?) p.(Lys2056*) Unknown - pathogenic (recessive) g.94467530T>A g.94001974T>A Arg1898his & Lys2056stop - ABCA4_001448 - PubMed: Anastasakis 2011 - - Unknown - - - - - DNA ? - - retinal disease 3 PubMed: Anastasakis 2011 - M ? United States white - - - - 1 Stéphanie Cornelis
+/. 45 c.6166A>T r.(?) p.(Lys2056*) Unknown - pathogenic (recessive) g.94467530T>A g.94001974T>A c.6166A>T Lys2056Stop AAG>TAG - ABCA4_001448 no segregation analysis done PubMed: Stone 2017 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease 784 PubMed: Stone 2017 - M ? - - - - - - 1 Stéphanie Cornelis
+/. 45 c.6166A>T r.(?) p.(Lys2056*) Unknown - pathogenic (recessive) g.94467530T>A g.94001974T>A c.6166A.T (p.K2056*) - ABCA4_001448 - PubMed: Collison 2019 - - Unknown - - - - - DNA SEQ-NG - - retinal disease 22 PubMed: Collison 2019 - M ? United States white - - - - 1 Stéphanie Cornelis
+/. 45 c.6166A>T r.(?) p.(Lys2056*) Unknown - pathogenic (recessive) g.94467530T>A g.94001974T>A c.6166A>T p.Lys2056* het - ABCA4_001448 - Prevention Genetics - - Unknown - - - - - DNA SEQ-NG - ABCA4 Panel retinal disease 2016-288-168 Prevention Genetics - - ? - white - - - - 1 Stéphanie Cornelis
+/. 45 c.6166A>T r.(?) p.(Lys2056Ter) Unknown ACMG pathogenic g.94467530T>A g.94001974T>A - - ABCA4_001448 ACMG PVS1, PS4, PM3, PP3_m; severity category severe Journal: Cornelis 2023 - - SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
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