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.

11 entries on 1 page. Showing entries 1 - 11.
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     
+/. 46 c.6320G>C r.(?) p.(Arg2107Pro) Unknown - pathogenic g.94466624C>G g.94001068C>G c.6320G>C - ABCA4_000838 - PubMed: Riveiro-Alvarez 2013 - - Germline - - - - - DNA PE, DHPLC, MCA, SEQ, MLPA, SEQ-NG - APEX CORD - PubMed: Riveiro-Alvarez 2013 - ? ? Spain ? - - - - 1 Stéphanie Cornelis
?/. 46 c.6320G>C r.(?) p.(Arg2107Pro) Unknown - VUS g.94466624C>G g.94001068C>G c.6320G>C - ABCA4_000838 - PubMed: Riveiro-Alvarez 2013 - - Germline - - - - - DNA PE, DHPLC, MCA, SEQ, MLPA, SEQ-NG - APEX CORD - PubMed: Riveiro-Alvarez 2013 - ? ? Spain ? - - - - 1 Stéphanie Cornelis
+?/. 46 c.6320G>C r.(?) p.(Arg2107Pro) Unknown - likely pathogenic g.94466624C>G g.94001068C>G c.6320G>C - ABCA4_000838 - PubMed: Riveiro-Alvarez 2013 - - Germline ? - - - - DNA PE, DHPLC, MCA, SEQ, MLPA, SEQ-NG - APEX STGD1 - PubMed: Riveiro-Alvarez 2013 - ? ? Spain ? - - - - 1 Stéphanie Cornelis
+/. 46 c.6320G>C r.(?) p.(Arg2107Pro) Unknown - pathogenic g.94466624C>G g.94001068C>G c.6320G>C - ABCA4_000838 - PubMed: Riveiro-Alvarez 2013 - - Germline - - - - - DNA PE, DHPLC, MCA, SEQ, MLPA, SEQ-NG - APEX STGD1 - PubMed: Riveiro-Alvarez 2013 - ? ? Spain ? - - - - 1 Stéphanie Cornelis
+/. 46 c.6320G>C r.(6320g>c) p.(Arg2107Pro) Parent #1 ACMG pathogenic (recessive) g.94466624C>G g.94001068C>G - - ABCA4_000838 - PubMed: Cornelis 2017, Journal: Cornelis 2017, Journal: Cornelis 2023 - - SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 46 c.6320G>C r.(?) p.(Arg2107Pro) Unknown - likely pathogenic (recessive) g.94466624C>G g.94001068C>G Arg2107Pro - ABCA4_000838 no variant 2nd chromosome PubMed: Riveiro-Alvarez 2008 - - Unknown - - - - - DNA PE, SEQ - APEX retinal disease Unknown 92 PubMed: Riveiro-Alvarez 2008 - - ? Spain - - - - - 1 Stéphanie Cornelis
+?/. 46 c.6320G>C r.(?) p.(Arg2107Pro) Unknown - likely pathogenic (recessive) g.94466624C>G g.94001068C>G Arg2107Pro - ABCA4_000838 no variant 2nd chromosome PubMed: Riveiro-Alvarez 2008 - - Unknown - - - - - DNA PE, SEQ - APEX retinal disease Unknown 93 PubMed: Riveiro-Alvarez 2008 - - ? Spain - - - - - 1 Stéphanie Cornelis
+?/. 46 c.6320G>C r.(?) p.(Arg2107Pro) Unknown - likely pathogenic (recessive) g.94466624C>G g.94001068C>G Arg2107Pro - ABCA4_000838 no variant 2nd chromosome PubMed: Riveiro-Alvarez 2008 - - Unknown - - - - - DNA PE, SEQ - APEX retinal disease Unknown 94 PubMed: Riveiro-Alvarez 2008 - - ? Spain - - - - - 1 Stéphanie Cornelis
+?/. 46 c.6320G>C r.(?) p.(Arg2107Pro) Unknown - likely pathogenic (recessive) g.94466624C>G g.94001068C>G c. 6320G>C, p.Arg2107Cys; - ABCA4_000838 - PubMed: Khan 2018 - - Unknown - - - - - DNA SEQ-NG - WES retinal disease 42215152 PubMed: Khan 2018 - - ? - - - - - - 1 Stéphanie Cornelis
+?/. 46 c.6320G>C r.(?) p.(Arg2107Pro) Unknown - likely pathogenic (recessive) g.94466624C>G - c.6320G>C - ABCA4_000838 unknown variant 2nd chromosome PubMed: Khan 2020 - - Unknown ? - - - - DNA MIPsm - smMIPs-based complete ABCA4 gene retinal disease 71278 PubMed: Khan 2020 - F - - - - - - - 1 LOVD
+?/. - c.6320G>C r.(?) p.(Arg2107Pro) Unknown ACMG likely pathogenic g.94466624C>G g.94001068C>G - - ABCA4_000838 case unsolved PubMed: Hitti-Malin 2024, Journal: Hitti-Malin 2024 - - Germline - - - - - DNA SEQ - smMIP-based 105 iMD/AMD genes macular dystrophy 071278 PubMed: Hitti-Malin 2024, Journal: Hitti-Malin 2024 - - - - - - - - - 1 Johan den Dunnen
Legend   How to query  


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