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.

13 entries on 1 page. Showing entries 1 - 13.
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     
+?/. 6 c.731T>C r.(?) p.(Leu244Pro) Both (homozygous) - likely pathogenic g.94564387A>G g.94098831A>G CTG > CCG - ABCA4_000372 - PubMed: Briggs 2001 - - Germline yes ExAC 1, 121328, 0, 0.000008242 - - - DNA SSCA, SEQ - - STGD1 - PubMed: Briggs 2001 2-generation family, 5 affected F ? - ? - - - - 1 Stéphanie Cornelis
+?/. 6 c.731T>C r.(?) p.(Leu244Pro) Both (homozygous) - likely pathogenic g.94564387A>G g.94098831A>G CTG > CCG - ABCA4_000372 - PubMed: Briggs 2001 - - Germline yes ExAC 1, 121328, 0, 0.000008242 - - - DNA SSCA, SEQ - - STGD1 - PubMed: Briggs 2001 Sibling of 032-076; 2-generation family, 5 affected F ? - ? - - - - 1 Stéphanie Cornelis
+?/. 6 c.731T>C r.(?) p.(Leu244Pro) Both (homozygous) - likely pathogenic g.94564387A>G g.94098831A>G CTG > CCG - ABCA4_000372 - PubMed: Briggs 2001 - - Germline yes ExAC 1, 121328, 0, 0.000008242 - - - DNA SSCA, SEQ - - STGD1 - PubMed: Briggs 2001 Sibling of 032-076; 2-generation family, 5 affected F ? - ? - - - - 1 Stéphanie Cornelis
+?/. 6 c.731T>C r.(?) p.(Leu244Pro) Both (homozygous) - likely pathogenic g.94564387A>G g.94098831A>G CTG > CCG - ABCA4_000372 - PubMed: Briggs 2001 - - Germline yes ExAC 1, 121328, 0, 0.000008242 - - - DNA SSCA, SEQ - - STGD1 - PubMed: Briggs 2001 Sibling of 032-076; 2-generation family, 5 affected M ? - ? - - - - 1 Stéphanie Cornelis
+?/. 6 c.731T>C r.(?) p.(Leu244Pro) Both (homozygous) - likely pathogenic g.94564387A>G g.94098831A>G CTG > CCG - ABCA4_000372 - PubMed: Briggs 2001 - - Germline yes ExAC 1, 121328, 0, 0.000008242 - - - DNA SSCA, SEQ - - STGD1 - PubMed: Briggs 2001 Sibling of 032-076; 2-generation family, 5 affected M ? - ? - - - - 1 Stéphanie Cornelis
+?/. 6 c.731T>C r.(?) p.(Leu244Pro) Both (homozygous) - likely pathogenic g.94564387A>G g.94098831A>G c.731T>C - ABCA4_000372 - PubMed: Kitiratschky 2008 - - Germline ? ExAC 1, 121328, 0, 0.000008242 - - - DNA PCR, PE, SEQ - APEX CORD - PubMed: Kitiratschky 2008 - F ? - (German):(United States) - - - - 1 Stéphanie Cornelis
+?/. 6 c.731T>C r.(?) p.(Leu244Pro) Both (homozygous) - likely pathogenic g.94564387A>G g.94098831A>G L244P - ABCA4_000372 - PubMed: Cideciyan 2009 - - Germline yes 1, 121328, 0, 0.000008242 - - - DNA ? - - CORD - PubMed: Cideciyan 2009 3 affected family members F ? - ? - - - - 1 Stéphanie Cornelis
+?/. 6 c.731T>C r.(?) p.(Leu244Pro) Both (homozygous) - likely pathogenic g.94564387A>G g.94098831A>G L244P - ABCA4_000372 - PubMed: Cideciyan 2009 - - Germline yes 1, 121328, 0, 0.000008242 - - - DNA ? - - CORD - PubMed: Cideciyan 2009 3 affected family members F ? - ? - - - - 1 Stéphanie Cornelis
+?/. 6 c.731T>C r.(?) p.(Leu244Pro) Both (homozygous) - likely pathogenic g.94564387A>G g.94098831A>G L244P - ABCA4_000372 - PubMed: Cideciyan 2009 - - Germline yes 1, 121328, 0, 0.000008242 - - - DNA ? - - CORD - PubMed: Cideciyan 2009 3 affected family members M ? - ? - - - - 1 Stéphanie Cornelis
+?/. 6 c.731T>C r.(?) p.(Leu244Pro) Both (homozygous) - likely pathogenic g.94564387A>G g.94098831A>G L244P - ABCA4_000372 - PubMed: Cideciyan 2009 - - Germline yes 1, 121328, 0, 0.000008242 - - - DNA ? - - CORD - PubMed: Cideciyan 2009 3 affected family members F ? - ? - - - - 1 Stéphanie Cornelis
+/. 6 c.731T>C r.(731u>c) p.(Leu244Pro) Parent #1 ACMG pathogenic (recessive) g.94564387A>G g.94098831A>G - - ABCA4_000372 - PubMed: Cornelis 2017, Journal: Cornelis 2017, Journal: Cornelis 2023 - - SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.731T>C r.(?) p.(Leu244Pro) Unknown - pathogenic (recessive) g.94564387A>G g.94098831A>G - - ABCA4_000372 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Unknown - - - - - DNA SEQ-NG - - retinal disease L-0219 PubMed: Cornelis 2024, Journal: Cornelis 2024 - M - France - - - - - 1 Frans Cremers
+/. - c.731T>C r.(?) p.(Leu244Pro) Unknown - pathogenic (recessive) g.94564387A>G g.94098831A>G - - ABCA4_000372 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Germline/De novo (untested) - - - - - DNA SEQ - - retinal disease MEH-mild-222 PubMed: Cornelis 2024, Journal: Cornelis 2024 - M - United Kingdom (Great Britain) - - - - - 1 Stéphanie Cornelis
Legend   How to query  


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