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.

19 entries on 1 page. Showing entries 1 - 19.
Legend   How to query  

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     
+/. 42 c.5882G>C r.(?) p.(Gly1961Glu) Parent #1 - pathogenic (recessive) g.94473807C>G g.94008251C>G - - ABCA4_001279 - PubMed: Runhart 2018 - - Germline - - - - - DNA PCRh, SEQ-NG - - STGD1 FamVPatII1 PubMed: Runhart 2018 - - - - - - - - - 1 Stéphanie Cornelis
+?/. 42 c.5882G>C r.(?) p.(Gly1961Ala) Unknown - likely pathogenic (recessive) g.94473807C>G g.94008251C>G Het NM_000350.2: c.5882G>C; - ABCA4_001279 - PubMed: Abed 2018 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease 1 PubMed: Abed 2018 - F ? Italy - - - - - 1 Stéphanie Cornelis
+?/. 42 c.5882G>C r.(?) p.(Gly1961Ala) Unknown - likely pathogenic (recessive) g.94473807C>G g.94008251C>G Het NM_000350.2: c.5882G>C; - ABCA4_001279 - PubMed: Abed 2018 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease 3 PubMed: Abed 2018 - M ? Italy - - - - - 1 Stéphanie Cornelis
+?/. 42 c.5882G>C r.(?) p.(Gly1961Ala) Unknown - likely pathogenic (recessive) g.94473807C>G g.94008251C>G Het NM_000350.2: c.5882G>C; - ABCA4_001279 - PubMed: Abed 2018 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease 7 PubMed: Abed 2018 - M ? Italy - - - - - 1 Stéphanie Cornelis
+?/. 42 c.5882G>C r.(?) p.(Gly1961Ala) Unknown - likely pathogenic (recessive) g.94473807C>G g.94008251C>G Het NM_000350.2: c.5882G>C; - ABCA4_001279 - PubMed: Abed 2018 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease 17 PubMed: Abed 2018 - M ? Italy - - - - - 1 Stéphanie Cornelis
+?/. 42 c.5882G>C r.(?) p.(Gly1961Ala) Unknown - likely pathogenic (recessive) g.94473807C>G g.94008251C>G Het NM_000350.2: c.5882G>C; - ABCA4_001279 - PubMed: Abed 2018 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease 20 PubMed: Abed 2018 - M ? Italy - - - - - 1 Stéphanie Cornelis
+?/. 42 c.5882G>C r.(?) p.(Gly1961Ala) Unknown - likely pathogenic (recessive) g.94473807C>G g.94008251C>G Het NM_000350.2: c.5882G>C; - ABCA4_001279 - PubMed: Abed 2018 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease 25 PubMed: Abed 2018 - M ? Italy - - - - - 1 Stéphanie Cornelis
+?/. 42 c.5882G>C r.(?) p.(Gly1961Ala) Unknown - likely pathogenic (recessive) g.94473807C>G g.94008251C>G Het NM_000350.2: c.5882G>C; - ABCA4_001279 - PubMed: Abed 2018 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease 29 PubMed: Abed 2018 - F ? Italy - - - - - 1 Stéphanie Cornelis
+?/. 42 c.5882G>C r.(?) p.(Gly1961Ala) Unknown - likely pathogenic (recessive) g.94473807C>G g.94008251C>G Het NM_000350.2: c.5882G>C; - ABCA4_001279 - PubMed: Abed 2018 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease 4 PubMed: Abed 2018 - M ? Italy - - - - - 1 Stéphanie Cornelis
+?/. 42 c.5882G>C r.(?) p.(Gly1961Ala) Unknown - likely pathogenic (recessive) g.94473807C>G g.94008251C>G Het NM_000350.2: c.5882G>C; - ABCA4_001279 - PubMed: Abed 2018 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease 6 PubMed: Abed 2018 - M ? Italy - - - - - 1 Stéphanie Cornelis
+?/. 42 c.5882G>C r.(?) p.(Gly1961Ala) Unknown - likely pathogenic (recessive) g.94473807C>G g.94008251C>G Het NM_000350.2: c.5882G>C; - ABCA4_001279 - PubMed: Abed 2018 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease 13 PubMed: Abed 2018 - M ? Italy - - - - - 1 Stéphanie Cornelis
+?/. 42 c.5882G>C r.(?) p.(Gly1961Ala) Unknown - likely pathogenic (recessive) g.94473807C>G g.94008251C>G Het NM_000350.2: c.5882G>C; - ABCA4_001279 - PubMed: Abed 2018 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease 22 PubMed: Abed 2018 - F ? Italy - - - - - 1 Stéphanie Cornelis
+?/. 42 c.5882G>C r.(?) p.(Gly1961Ala) Unknown - likely pathogenic (recessive) g.94473807C>G g.94008251C>G Het NM_000350.2: c.5882G>C; - ABCA4_001279 - PubMed: Abed 2018 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease 23 PubMed: Abed 2018 - F ? Italy - - - - - 1 Stéphanie Cornelis
+?/. 42 c.5882G>C r.(?) p.(Gly1961Ala) Unknown - likely pathogenic (recessive) g.94473807C>G g.94008251C>G Het NM_000350.2: c.5882G>C; - ABCA4_001279 - PubMed: Abed 2018 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease 28 PubMed: Abed 2018 - F ? Italy - - - - - 1 Stéphanie Cornelis
+?/. 42 c.5882G>C r.(?) p.(Gly1961Ala) Unknown - likely pathogenic (recessive) g.94473807C>G - c.5882G>C (p.G1961A) - ABCA4_001279 - PubMed: Fritsche 2012 - - Unknown ? - - - - DNA SEQ - - retinal disease Wü-AMD-0420 PubMed: Fritsche 2012 The genotypes for the CFH rs1061170, ARMS2 rs10490924 and C3 rs2230199 locations were T/C, T/T, C/C respectively. Unknown 2nd chromosome. M ? Germany - - - - - 1 LOVD
+/. - c.5882G>C r.(?) p.(Gly1961Ala) Parent #2 - pathogenic (recessive) g.94473807C>G g.94008251C>G - - ABCA4_001279 - PubMed: Corradi 2022, Journal: Corradi 2022 - - Germline - - - - - DNA MIPsm, SEQ-NG - - retinal disease FamSJH0195PatII1 PubMed: Corradi 2022, Journal: Corradi 2022 2-generation family, 3 affected (F, 2M), unaffected heterozygous parents M - Israel Hebron/Sureef - - - - 3 Johan den Dunnen
+/. - c.5882G>C r.(?) p.(Gly1961Ala) Parent #2 - pathogenic (recessive) g.94473807C>G g.94008251C>G - - ABCA4_001279 - PubMed: Corradi 2022, Journal: Corradi 2022 - - Germline - - - - - DNA MIPsm, SEQ-NG - - retinal disease FamSJH0195PatII2 PubMed: Corradi 2022, Journal: Corradi 2022 brother M - Israel Hebron/Sureef - - - - 1 Johan den Dunnen
+/. - c.5882G>C r.(?) p.(Gly1961Ala) Parent #2 - pathogenic (recessive) g.94473807C>G g.94008251C>G - - ABCA4_001279 - PubMed: Corradi 2022, Journal: Corradi 2022 - - Germline - - - - - DNA MIPsm, SEQ-NG - - retinal disease FamSJH0195PatII3 PubMed: Corradi 2022, Journal: Corradi 2022 sister F - Israel Hebron/Sureef - - - - 1 Johan den Dunnen
+/. 42 c.5882G>C r.(?) p.(Gly1961Ala) Unknown ACMG pathogenic g.94473807C>G g.94008251C>G - - ABCA4_001279 ACMG PS4, PM3_V, PM5, PP3_m; severity category mild/moderate Journal: Cornelis 2023 - - SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
Legend   How to query  


Screenscraping/webscraping (downloading large amounts of data using scripts) is strictly prohibited.
Use our APIs to retrieve data.