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.

4 entries on 1 page. Showing entries 1 - 4.
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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     
+?/. 13 c.1783G>A r.(?) p.(Ala595Thr) Parent #2 - likely pathogenic g.94528287C>T g.94062731C>T - - ABCA4_001074 - PubMed: Khan 2019 - - Unknown no - - - - DNA SEQ, MIPsm - - STGD1 ? PubMed: Khan 2019 - - - France - - - - - 1 Stéphanie Cornelis
+?/. 13 c.1783G>A r.(?) p.(Ala595Thr) Unknown - likely pathogenic (recessive) g.94528287C>T g.94062731C>T c.1783G>A, p.Ala595Thr Heterozygous - ABCA4_001074 - PubMed: Goetz 2020 - - Unknown - - - - - DNA SEQ-NG-I - solid state SBS retinal disease 2812-4390 PubMed: Goetz 2020 - - ? - - - - - - 1 Stéphanie Cornelis
+?/. 13 c.1783G>A r.(?) p.(Ala595Thr) Unknown - likely pathogenic (recessive) g.94528287C>T g.94062731C>T c.1783G>A p.(Ala595Thr) - ABCA4_001074 no segregation analysis done PubMed: Khan 2019 - - Unknown - - - - - DNA SEQ-NG, MIPsm - smMIPs of exons and few intronic regions retinal disease 67223 PubMed: Khan 2019 - - ? France - - - - - 1 Stéphanie Cornelis
+?/. 13 c.1783G>A r.(?) p.(Ala595Thr) Unknown ACMG likely pathogenic g.94528287C>T g.94062731C>T - - ABCA4_001074 ACMG PS4, PM3, PP3; severity category mild/moderate Journal: Cornelis 2023 - - SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
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