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.

33 entries on 1 page. Showing entries 1 - 33.
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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     
?/. 18 c.2701A>G r.(?) p.(Thr901Ala) Parent #2 - VUS g.94514466T>C g.94048910T>C - - ABCA4_000008 - PubMed: Neveling 2012 - - Germline no - - - - DNA SEQ, SEQ-NG-S - - retinal disease - - - M - - - - - - - 1 Kornelia Neveling
?/. 18 c.2701A>G r.(?) p.(Thr901Ala) Unknown - VUS g.94514466T>C g.94048910T>C 2701A>G - ABCA4_000008 - PubMed: Webster 2001 - - Germline - ExAC 212, 121284, 0, 0.001748 - - - DNA SSCA, SEQ - - STGD1 - PubMed: Webster 2001 Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome. ? ? United States - - - - - 1 Stéphanie Cornelis
+/. 18 c.2701A>G r.(?) p.(Thr901Ala) Unknown - pathogenic g.94514466T>C g.94048910T>C A2701G - ABCA4_000008 - PubMed: Birch 2001 - - Germline - ExAC 212, 121284, 0, 0.001748 - - - DNA PCR, SEQ - - retinal disease - PubMed: Birch 2001 - ? ? - ? - - - - 1 Stéphanie Cornelis
-?/. 18 c.2701A>G r.(?) p.(Thr901Ala) Unknown - likely benign g.94514466T>C g.94048910T>C 2701A>G - ABCA4_000008 - PubMed: Valverde 2007 - - Germline ? 212, 121284, 0, 0.001748 - - - DNA PCR, PE, SEQ, DHPLC - APEX CORD - PubMed: Valverde 2007 - ? ? Spain - - - - - 1 Stéphanie Cornelis
?/. 18 c.2701A>G r.(?) p.(Thr901Ala) Unknown - VUS g.94514466T>C g.94048910T>C 2701A>G - ABCA4_000008 - PubMed: Valverde 2007 - - Germline - 212, 121284, 0, 0.001748 - - - DNA PCR, PE, SEQ, DHPLC - APEX retinal disease - PubMed: Valverde 2007 - ? ? Spain - - - - - 1 Stéphanie Cornelis
?/. 18 c.2701A>G r.(?) p.(Thr901Ala) Unknown - VUS g.94514466T>C g.94048910T>C c.2701A>G - ABCA4_000008 - PubMed: Rosenberg 2007 - - Germline - 212, 121284, 0, 0.001748 - - - DNA PCR, SSCA, PE, SEQ - APEX ? - PubMed: Rosenberg 2007 Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome. ? no - ? - - - - 1 Stéphanie Cornelis
+/. 18 c.2701A>G r.(?) p.(Thr901Ala) Unknown - pathogenic g.94514466T>C g.94048910T>C c.2701A>G - ABCA4_000008 - PubMed: Duno 2012 - - Germline - 212, 121284, 0, 0.001748 - - - DNA MLPA, PE, MCA, PCR, SEQ - APEX RD - PubMed: Duno 2012 - ? ? Denmark Scandinavian - - - - 1 Stéphanie Cornelis
?/. 18 c.2701A>G r.(?) p.(Thr901Ala) Unknown - VUS g.94514466T>C g.94048910T>C c.2701A>G - ABCA4_000008 - PubMed: Fujinami 2013 - - Germline - 212, 121284, 0, 0.001748 - - - DNA PE, PCR, SEQ, SEQ-NG-R - APEX ? - PubMed: Fujinami 2013 - ? ? United Kingdom (Great Britain) ? - - - - 1 Stéphanie Cornelis
?/. 18 c.2701A>G r.(2701a>g) p.(Thr901Ala) Parent #1 ACMG VUS g.94514466T>C g.94048910T>C - - ABCA4_000008 variant frequency lower in a group of >3000 likely Caucasian STGD1 patients than in the ExAC non-Finnish population PubMed: Cornelis 2017, Journal: Cornelis 2017, Journal: Cornelis 2023 - - SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2701A>G r.(?) p.(Thr901Ala) Unknown - VUS g.94514466T>C g.94048910T>C ABCA4(NM_000350.2):c.2701A>G (p.T901A) - ABCA4_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2701A>G r.(?) p.(Thr901Ala) Unknown - likely benign g.94514466T>C g.94048910T>C ABCA4(NM_000350.2):c.2701A>G (p.T901A) - ABCA4_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. 18 c.2701A>G r.(?) p.(Thr901Ala) Parent #1 - likely benign g.94514466T>C g.94048910T>C - - ABCA4_000008 - PubMed: Khan 2019 - - Unknown no - - - - DNA SEQ, MIPsm - - STGD1 ? PubMed: Khan 2019 - - - France - - - - - 1 Stéphanie Cornelis
+?/. - c.2701A>G r.(?) p.(Thr901Ala) Parent #1 - likely pathogenic (recessive) g.94514466T>C g.94048910T>C - - ABCA4_000008 - PubMed: Holtan 2020 - - Germline - 1/899 cases - - - DNA SEQ - - retinal disease - PubMed: Holtan 2020 1 patient with variant in heterozygous or compound heterozygous form - - Norway - - - - - 1 Global Variome, with Curator vacancy
?/. - c.2701A>G r.(?) p.(Thr901Ala) Unknown - VUS g.94514466T>C g.94048910T>C - - ABCA4_000008 - PubMed: Taylor 2017 - - Germline - - - - - DNA SEQ-NG - gene panel retinal disease 15014171 PubMed: Taylor 2017 family history retinal disease M - United Kingdom (Great Britain) - - - - - 1 LOVD
?/. 18 c.2701A>G r.(?) p.(Thr901Ala) Unknown - VUS g.94514466T>C g.94048910T>C Thr901Ala - ABCA4_000008 no variant 2nd chromosome PubMed: Riveiro-Alvarez 2008 - - Unknown - - - - - DNA PE, SEQ - APEX retinal disease Unknown 197 PubMed: Riveiro-Alvarez 2008 - - ? Spain - - - - - 1 Stéphanie Cornelis
?/. 18 c.2701A>G r.(?) p.(Thr901Ala) Parent #1 - VUS g.94514466T>C g.94048910T>C c.2701A>G (18) p.Thr901Ala - ABCA4_000008 no variant 2nd chromosome PubMed: Aguirre-Lamban 2009 - - Unknown yes - - - - DNA PE, SEQ, DHPLC, MLPA - APEX retinal disease ARDM-131 PubMed: Aguirre-Lamban 2009 - - ? Spain - - - - - 1 Stéphanie Cornelis
?/. 18 c.2701A>G r.(?) p.(Thr901Ala) Unknown - VUS g.94514466T>C g.94048910T>C ABCA4 c.2701A>G, p.(Thr901Ala) - ABCA4_000008 no variant 2nd chromosome PubMed: Taylor 2017 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease 15014171 PubMed: Taylor 2017 - M ? United Kingdom (Great Britain) - - - - - 1 Stéphanie Cornelis
?/. 18 c.2701A>G r.(?) p.(Thr901Ala) Unknown - VUS g.94514466T>C g.94048910T>C c.2701 A>G - ABCA4_000008 no variant 2nd chromosome PubMed: Holtan 2019 - - Unknown - - - - - DNA PE - APEX retinal disease Unknown 679 PubMed: Holtan 2019 - - ? Norway - - - - - 1 Stéphanie Cornelis
?/. 18 c.2701A>G r.(?) p.(Thr901Ala) Unknown - VUS g.94514466T>C g.94048910T>C c.2701A>G p.(Thr901Ala) - ABCA4_000008 no variant 2nd chromosome PubMed: Jespersgaard 2019 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease 333 PubMed: Jespersgaard 2019 - - ? Denmark - - - - - 1 Stéphanie Cornelis
?/. 18 c.2701A>G r.(?) p.(Thr901Ala) Unknown - VUS g.94514466T>C g.94048910T>C c.2701A>G p.Thr901Ala het - ABCA4_000008 - Prevention Genetics - - Unknown - - - - - DNA SEQ-NG - STGDMD panel retinal disease 2017-097-184 Prevention Genetics - - ? - - - - - - 1 Stéphanie Cornelis
?/. 18 c.2701A>G r.(?) p.(Thr901Ala) Unknown - VUS g.94514466T>C g.94048910T>C c.2701A>G p.Thr901Ala Het - ABCA4_000008 - Prevention Genetics - - Unknown - - - - - DNA SEQ-NG - IRD panel retinal disease 2018-200-160 Prevention Genetics - - ? - - - - - - 1 Stéphanie Cornelis
?/. 18 c.2701A>G r.(?) p.(Thr901Ala) Unknown - VUS g.94514466T>C g.94048910T>C c.2701A>G p.Thr901Ala Het - ABCA4_000008 - Prevention Genetics - - Unknown - - - - - DNA SEQ-NG - IRD panel retinal disease 2018-227-337 Prevention Genetics - - ? - - - - - - 1 Stéphanie Cornelis
?/. 18 c.2701A>G r.(?) p.(Thr901Ala) Unknown - VUS g.94514466T>C g.94048910T>C c.2701A>G p.Thr901Ala Het - ABCA4_000008 - Prevention Genetics - - Unknown - - - - - DNA SEQ-NG - IRD panel retinal disease 2018-264-217 Prevention Genetics - - ? - - - - - - 1 Stéphanie Cornelis
?/. 18 c.2701A>G r.(?) p.(Thr901Ala) Unknown - VUS g.94514466T>C g.94048910T>C c.2701A>G p.Thr901Ala Het - ABCA4_000008 - Prevention Genetics - - Unknown - - - - - DNA SEQ-NG - IRD panel retinal disease 2019-213-262 Prevention Genetics - - ? - - - - - - 1 Stéphanie Cornelis
?/. 18 c.2701A>G r.(?) p.(Thr901Ala) Unknown - VUS g.94514466T>C g.94048910T>C c.2701A>G, p.Thr901Ala Heterozygous - ABCA4_000008 no variant 2nd chromosome PubMed: Goetz 2020 - - Unknown - 212, 121284, 0, 0.001748 - - - DNA SEQ - - retinal disease 5079-7039 PubMed: Goetz 2020 - - ? - - - - - - 1 Stéphanie Cornelis
?/. 18 c.2701A>G r.(?) p.(Thr901Ala) Unknown - VUS g.94514466T>C g.94048910T>C c.2701A>G p.Thr901Ala Het - ABCA4_000008 - Prevention Genetics - - Unknown - - - - - DNA SEQ-NG - IRD panel retinal disease 2018-257-281 Prevention Genetics - - ? - - - - - - 1 Stéphanie Cornelis
?/. 18 c.2701A>G r.(?) p.(Thr901Ala) Unknown - VUS g.94514466T>C g.94048910T>C c.2701A>G, p.Thr901Ala Heterozygous - ABCA4_000008 - PubMed: Goetz 2020 - - Unknown - 212, 121284, 0, 0.001748 - - - DNA SEQ - - retinal disease 2020-3524 PubMed: Goetz 2020 - - ? - - - - - - 1 Stéphanie Cornelis
-/. 18 c.2701A>G r.(?) p.(Thr901Ala) Unknown - benign g.94514466T>C - c.2701A>G - ABCA4_000008 normal 2nd chromosome PubMed: Thiadens_2012 - - Unknown - - - - - DNA PCR, SEQ blood - retinal disease - PubMed: Thiadens_2012 - - no - - - - - - 1 LOVD
?/. - c.2701A>G r.(?) p.(Thr901Ala) Unknown - VUS g.94514466T>C g.94048910T>C ABCA4 2701A>G, Thr901Ala - ABCA4_000008 exonic polymorphism, Fisher's exact test (two-sided): independent ARM patients versus control: NA; Armitage trend test: all ARM patients versus controls: 0. PubMed: Schmidt_2003 - - Unknown ? independent ARM (n=140): 0; all ARM (n=330): 0.003; control subjects (n=118): 0 - - - DNA DHPLC - - ARMD ? PubMed: Schmidt_2003 case-control population study M;F - - - - - - - 1 LOVD
?/. 18 c.2701A>G r.(?) p.(Thr901Ala) Parent #1 ACMG VUS g.94514466T>C g.94048910T>C - - ABCA4_000008 - PubMed: Corradi 2023, Journal: Corradi 2023 - - Germline - - - - - DNA MIPsm, SEQ-NG - - retinal disease Pat152 PubMed: Corradi 2023, Journal: Corradi 2023 - M - - - - - - - 1 Zelia Corradi
?/. 18 c.2701A>G r.(?) p.(Thr901Ala) Parent #1 ACMG VUS g.94514466T>C g.94048910T>C - - ABCA4_000008 - PubMed: Corradi 2023, Journal: Corradi 2023 - - Germline - - - - - DNA MIPsm, SEQ-NG - - retinal disease Pat211 PubMed: Corradi 2023, Journal: Corradi 2023 - F - - - - - - - 1 Zelia Corradi
?/. 18 c.2701A>G r.(?) p.(Thr901Ala) Unknown ACMG VUS g.94514466T>C g.94048910T>C - - ABCA4_000008 - PubMed: Corradi 2023, Journal: Corradi 2023 - - Germline - - - - - DNA MIPsm, SEQ-NG - - retinal disease Pat231 PubMed: Corradi 2023, Journal: Corradi 2023 - F - - - - - - - 1 Zelia Corradi
?/. - c.2701A>G r.(?) p.(Thr901Ala) Unknown ACMG VUS g.94514466T>C g.94048910T>C - - ABCA4_000008 ACMG PP2, PP5, BP6 PubMed: Weisschuh 2024 - - Germline - - - - - DNA SEQ-NG - WGS ? MDS-395 PubMed: Weisschuh 2024 patient F - Germany - - - - - 1 Johan den Dunnen
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