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.

15 entries on 1 page. Showing entries 1 - 15.
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     
+/. 30i c.4539+1100A>G r.[(4539_4540ins[4539+1033_4539+1099;g],4539_4540ins[4539+989_4539+1099;g],=0} p.[Arg1514Valfs*31,Arg1514Glyfs*3] Parent #2 - pathogenic (recessive) g.94493901T>C g.94028345T>C - - ABCA4_001288 analysis mini-gene splicing assay PubMed: Sangermano 2019 - - Germline - - - - - DNA PCRh, SEQ-NG - - STGD1 FamEPatII1 PubMed: Sangermano 2019 - F - - - - - - - 1 Stéphanie Cornelis
+/. 30i c.4539+1100A>G r.[(4539_4540ins[4539+1033_4539+1099;g],4539_4540ins[4539+989_4539+1099;g],=0} p.[Arg1514Valfs*31, Arg1514Glyfs*3] Parent #2 - pathogenic (recessive) g.94493901T>C g.94028345T>C - - ABCA4_001288 analysis mini-gene splicing assay PubMed: Sangermano 2019 - - Germline - - - - - DNA PCRh, SEQ-NG - - STGD1 FamVPatII1 PubMed: Sangermano 2019 - F - - - - - - - 1 Stéphanie Cornelis
+/. 30i c.4539+1100A>G r.[4539_4540ins4539+1033_4539+1100,4539_4540ins4539+989_4539+1100,=] p.[Arg1514Valfs*31,Arg1514Glyfs*3,=] Unknown - pathogenic (recessive) g.94493901T>C g.94028345T>C c.4539+1100A>G p.[Arg1514Valfs*31,Arg1514Glyfs*3,=] - ABCA4_001288 - PubMed: Sun 2020 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease 9625 PubMed: Sun 2020 - M ? China China - - - - 1 Stéphanie Cornelis
+/. 30i c.4539+1100A>G r.[4539_4540ins4539+1033_4539+1100,4539_4540ins4539+989_4539+1100,=] p.[Arg1514Valfs*31,Arg1514Glyfs*3,=] Parent #2 - pathogenic (recessive) g.94493901T>C g.94028345T>C c.4539+1100A>G p.[Arg1514Valfs*31,Arg1514Glyfs*3, =]b - ABCA4_001288 - PubMed: Sangermano 2019 - - Unknown yes - - - - DNA SEQ-NG-I - - retinal disease E-II:1 PubMed: Sangermano 2019 - F ? - - - - - - 1 Stéphanie Cornelis
+/. 30i c.4539+1100A>G r.[4539_4540ins4539+1033_4539+1100,4539_4540ins4539+989_4539+1100,=] p.[Arg1514Valfs*31,Arg1514Glyfs*3,=] Unknown - pathogenic (recessive) g.94493901T>C g.94028345T>C c.4539+1100A>G p.[Arg1514Valfs*31,Arg1514Glyfs*3,=]b - ABCA4_001288 - PubMed: Sangermano 2019 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease V-II:1 PubMed: Sangermano 2019 - F ? - - - - - - 1 Stéphanie Cornelis
+/. - c.4539+1100A>G r.([4539_4540ins[4539+1033_4539+1099;g],=]) p.[(Arg1514Glyfs*3,=)] Parent #1 ACMG pathogenic (recessive) g.94493901T>C g.94028345T>C - - ABCA4_001288 - PubMed: Tian 2022, PubMed: Tian 2024 - - Germline yes - - - - DNA SEQ-NG-I - - STGD1 010091 PubMed: Tian 2022, PubMed: Tian 2024 - F - China - - - - - 1 Lu Tian
+/. - c.4539+1100A>G r.([4539_4540ins[4539+1033_4539+1099;g],=]) p.[(Arg1514Glyfs*3,=)] Paternal (confirmed) ACMG pathogenic (recessive) g.94493901T>C g.94028345T>C - - ABCA4_001288 - PubMed: Tian 2022, PubMed: Tian 2024 - - Germline - - - - - DNA SEQ-NG-I - - STGD1 010705 PubMed: Tian 2022, PubMed: Tian 2024 - F no China - - - - - 1 Lu Tian
+/. - c.4539+1100A>G r.([4539_4540ins[4539+1033_4539+1099;g],=]) p.[(Arg1514Glyfs*3,=)] Paternal (confirmed) ACMG pathogenic (recessive) g.94493901T>C g.94028345T>C - - ABCA4_001288 - PubMed: Tian 2022, PubMed: Tian 2024 - - Germline yes - - - - DNA SEQ-NG-I - - STGD1 010565 PubMed: Tian 2022, PubMed: Tian 2024 - M - China - - - - - 1 Lu Tian
+/. - c.4539+1100A>G r.([4539_4540ins[4539+1033_4539+1099;g],=]) p.[(Arg1514Glyfs*3,=)] Parent #1 ACMG pathogenic (recessive) g.94493901T>C g.94028345T>C - - ABCA4_001288 - PubMed: Tian 2022, PubMed: Tian 2024 - - Germline - - - - - DNA SEQ-NG-I - - STGD1 010611 PubMed: Tian 2022, PubMed: Tian 2024 - M no China - - - - - 1 Lu Tian
+/. - c.4539+1100A>G r.([4539_4540ins[4539+1033_4539+1099;g],=]) p.[(Arg1514Glyfs*3,=)] Maternal (confirmed) ACMG pathogenic (recessive) g.94493901T>C g.94028345T>C - - ABCA4_001288 - PubMed: Tian 2022, PubMed: Tian 2024 - - Germline yes - - - - DNA SEQ-NG-I - - STGD1 010105 PubMed: Tian 2022, PubMed: Tian 2024 - M no China - - - - - 1 Lu Tian
+/. - c.4539+1100A>G r.([4539_4540ins[4539+1033_4539+1099;g],=]) p.[(Arg1514Glyfs*3,=)] Paternal (confirmed) ACMG pathogenic (recessive) g.94493901T>C g.94028345T>C - - ABCA4_001288 - PubMed: Tian 2022, PubMed: Tian 2024 - - Germline yes - - - - DNA SEQ-NG-I - - STGD1 010493 PubMed: Tian 2022, PubMed: Tian 2024 - F - China - - - - - 1 Lu Tian
+/. - c.4539+1100A>G r.([4539_4540ins[4539+1033_4539+1099;g],=]) p.[(Arg1514Glyfs*3,=)] Maternal (confirmed) ACMG pathogenic (recessive) g.94493901T>C g.94028345T>C - - ABCA4_001288 - PubMed: Tian 2022, PubMed: Tian 2024 - - Germline yes - - - - DNA SEQ-NG-I - - STGD1 010506 PubMed: Tian 2022, PubMed: Tian 2024 - M - China - - - - - 1 Lu Tian
+?/. - c.4539+1100A>G r.(=) p.(=) Unknown - likely pathogenic g.94493901T>C - ABCA4(NM_000350.3):c.4539+1100A>G - ABCA4_001288 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.4539+1100A>G r.(=) p.(=) Unknown - pathogenic g.94493901T>C - ABCA4(NM_000350.3):c.4539+1100A>G - ABCA4_001288 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. 30i c.4539+1100A>G r.[4539_4540ins4539+1033_4539+1100,4539_4540ins4539+989_4539+1100,=] p.[Arg1514ValfsTer31,Arg1514GlyfsTer3,=] Unknown ACMG VUS g.94493901T>C g.94028345T>C - - ABCA4_001288 ACMG PS3_sup, PM2_sup, PP3; severity category 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.