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.

38 entries on 1 page. Showing entries 1 - 38.
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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     
+/. ? c.735T>G r.(?) p.(Tyr245*) Unknown - pathogenic g.94564383A>C - Y245X(735T>G) - ABCA4_000371 - PubMed: Stenirri 2004 - - Germline - - - - - DNA PCR, DHPLC, SEQ - - STGD1 - PubMed: Stenirri 2004 - ? ? Italy ? - - - - 1 Stéphanie Cornelis
?/. 6 c.735T>G r.(?) p.(Tyr245*) Unknown - VUS g.94564383A>C g.94098827A>C Y245X(735T>G) - ABCA4_000371 - PubMed: Stenirri 2004 - - Germline - - - - - DNA PCR, DHPLC, SEQ - - STGD1 - PubMed: Stenirri 2004 - ? ? Italy ? - - - - 1 Stéphanie Cornelis
+/. 6 c.735T>G r.(?) p.(Tyr245*) Both (homozygous) - pathogenic g.94564383A>C g.94098827A>C c.735T>G - ABCA4_000371 - PubMed: Kitiratschky 2008 - - Germline yes - - - - DNA PCR, PE, SEQ - APEX CORD - PubMed: Kitiratschky 2008 - M ? - (German):(United States) - - - - 1 Stéphanie Cornelis
?/. 6 c.735T>G r.(?) p.(Tyr245*) Unknown - VUS g.94564383A>C g.94098827A>C Tyr245Stop TAT>TAG - ABCA4_000371 found no variant 2nd chromosome PubMed: Schindler 2010 - - Germline - - - - - DNA SNPlex, TaqMan, SSCA, SEQ - - STGD1 - PubMed: Schindler 2010 - ? ? United States Iowa - - - - 1 Stéphanie Cornelis
+?/. 6 c.735T>G r.(?) p.(Tyr245*) Unknown - likely pathogenic g.94564383A>C g.94098827A>C c.735T>G - ABCA4_000371 - PubMed: Zernant 2011 - - Germline ? - - - - DNA PE, SEQ-NG, SEQ - APEX ? - PubMed: Zernant 2011 - ? ? - ? - - - - 1 Stéphanie Cornelis
+?/. 6 c.735T>G r.(?) p.(Tyr245*) Unknown - likely pathogenic g.94564383A>C g.94098827A>C c.735T>G - ABCA4_000371 - PubMed: Riveiro-Alvarez 2013 - - Germline ? - - - - DNA PE, DHPLC, MCA, SEQ, MLPA, SEQ-NG - APEX STGD1 - PubMed: Riveiro-Alvarez 2013 - ? ? Spain ? - - - - 1 Stéphanie Cornelis
?/. 6 c.735T>G r.(?) p.(Tyr245*) Maternal (inferred) - VUS g.94564383A>C g.94098827A>C p.[Y245*;V767D] - ABCA4_000371 - PubMed: Duncker 2015 - - Germline - - - - - DNA PE, SEQ-NG-I - APEX ? - PubMed: Duncker 2015 ? M ? - white - - - - 1 Stéphanie Cornelis
+/. 6 c.735T>G r.(?) p.(Tyr245*) Both (homozygous) - pathogenic g.94564383A>C g.94098827A>C Y245X - ABCA4_000371 - PubMed: Cideciyan 2009 - - Germline yes - - - - DNA ? - - CORD - PubMed: Cideciyan 2009 ? M ? - ? - - - - 1 Stéphanie Cornelis
+/. 6 c.735T>G r.(?) p.(Tyr245*) Both (homozygous) - pathogenic g.94564383A>C g.94098827A>C Y245X - ABCA4_000371 - PubMed: Cideciyan 2009 - - Germline yes - - - - DNA ? - - CORD - PubMed: Cideciyan 2009 1 affected family member M ? - ? - - - - 1 Stéphanie Cornelis
+/. 6 c.735T>G r.(735u>g) p.(Tyr245Ter) Parent #1 ACMG pathogenic (recessive) g.94564383A>C g.94098827A>C - - ABCA4_000371 - PubMed: Cornelis 2017, Journal: Cornelis 2017, Journal: Cornelis 2023 - - SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
+/. 6 c.735T>G r.(?) p.(Tyr245*) Parent #1 - pathogenic g.94564383A>C g.94098827A>C - - ABCA4_000371 - PubMed: Khan 2019 - - Unknown no - - - - DNA SEQ, MIPsm - - STGD1 ? PubMed: Khan 2019 - - - France - - - - - 1 Stéphanie Cornelis
+/. 6 c.735T>G r.(?) p.(Tyr245*) Parent #1 - pathogenic g.94564383A>C g.94098827A>C - - ABCA4_000371 - PubMed: Khan 2019 - - Germline yes - - - - DNA SEQ, MIPsm - - STGD1 ? PubMed: Khan 2019 - - - France - - - - - 1 Stéphanie Cornelis
+/. 6 c.735T>G r.(?) p.(Tyr245*) Parent #1 - pathogenic (recessive) g.94564383A>C g.94098827A>C c.[735T>G;2300T>A] (p.[Tyr245*;Val767Asp]) - ABCA4_000371 - PubMed: Zernant 2017 - - Unknown yes - - - - DNA SEQ-NG-I - - retinal disease 3032 PubMed: Zernant 2017 - - ? United States - - - - - 1 Stéphanie Cornelis
+/. 6 c.735T>G r.(?) p.(Tyr245*) Parent #1 - pathogenic (recessive) g.94564383A>C g.94098827A>C p.[Y245*/V767D] - ABCA4_000371 - PubMed: Tanaka 2018 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease 6 PubMed: Tanaka 2018 - M ? - white - - - - 1 Stéphanie Cornelis
+/. 6 c.735T>G r.(?) p.(Tyr245*) Unknown - pathogenic (recessive) g.94564383A>C g.94098827A>C p.Tyr245X - ABCA4_000371 - PubMed: Melillo 2018 - - Unknown - - - - - DNA ? - - retinal disease 21 PubMed: Melillo 2018 - F ? Italy - - - - - 1 Stéphanie Cornelis
+/. 6 c.735T>G r.(?) p.(Tyr245*) Unknown - pathogenic (recessive) g.94564383A>C g.94098827A>C c.735T>G p.(Tyr245*) - ABCA4_000371 no segregation analysis done PubMed: Khan 2019 - - Unknown - - - - - DNA SEQ-NG, MIPsm - smMIPs of exons and few intronic regions retinal disease 67135 PubMed: Khan 2019 - - ? France - - - - - 1 Stéphanie Cornelis
+/. 6 c.735T>G r.(?) p.(Tyr245*) Parent #1 - pathogenic (recessive) g.94564383A>C g.94098827A>C c.735T>G p.(Tyr245*) - ABCA4_000371 - PubMed: Khan 2019 - - Unknown yes - - - - DNA SEQ-NG, MIPsm - smMIPs of exons and few intronic regions retinal disease 67227 PubMed: Khan 2019 - - ? France - - - - - 1 Stéphanie Cornelis
+/. 6 c.735T>G r.(?) p.(Tyr245*) Unknown - pathogenic (recessive) g.94564383A>C g.94098827A>C Y245X; - ABCA4_000371 - PubMed: Melillo 2020 - - Unknown - - - - - DNA ? - - retinal disease C9 PubMed: Melillo 2020 - F ? Italy - - - - - 1 Stéphanie Cornelis
+/. 6 c.735T>G r.(?) p.(Tyr245*) Both (homozygous) - pathogenic (recessive) g.94564383A>C g.94098827A>C c.735T>G - ABCA4_000371 - PubMed: Toulis 2020 - - Germline - - - - - DNA SEQ-NG - - retinal disease DBG1 PubMed: Toulis 2020 Has an affected sister as well F ? - - - - - - 1 Stéphanie Cornelis
+/. 6 c.735T>G r.(?) p.(Tyr245*) Unknown - pathogenic (recessive) g.94564383A>C g.94098827A>C c.735T>G p.Tyr245* Het - ABCA4_000371 - Prevention Genetics - - Unknown - - - - - DNA SEQ-NG - IRD panel retinal disease 2018-292-228 Prevention Genetics - - ? - Italy - - - - 1 Stéphanie Cornelis
+/. 6 c.735T>G r.(?) p.(Tyr245*) Unknown - pathogenic (recessive) g.94564383A>C g.94098827A>C c.735T>G p.Y245X - ABCA4_000371 - PubMed: Fakin 2016 - - Unknown - - - - - DNA SEQ-NG - - retinal disease 19140 PubMed: Fakin 2016 - M ? - - - - - - 1 Stéphanie Cornelis
+/. 6 c.735T>G r.(?) p.(Tyr245*) Unknown - pathogenic g.94564383A>C g.94098827A>C c.735T>G - ABCA4_000371 - PubMed: Toulis 2020 - - Germline yes - - - - DNA SEQ-NG blood, saliva, hair, biopsy target gene panels or whole exome sequencing (WES) retinal disease 1.1 PubMed: Toulis 2020 proband F - Spain - - - - - 1 LOVD
+/. 6 c.735T>G r.(?) p.(Tyr245*) Unknown - pathogenic g.94564383A>C g.94098827A>C c.735T>G - ABCA4_000371 - PubMed: Toulis 2020 - - Germline yes - - - - DNA SEQ-NG blood target gene panels or whole exome sequencing (WES) retinal disease 1.2 PubMed: Toulis 2020 Affected sister of 1.1 F - Spain - - - - - 1 LOVD
+?/. 6 c.735T>G r.(?) p.(Tyr245*) Parent #1 - likely pathogenic g.94564383A>C - c.735T>G - ABCA4_000371 - PubMed: Maggi_2021 - - Germline ? - - - - DNA PCRlr - - retinal disease - PubMed: Maggi_2021 - F - Switzerland - - - - - 1 LOVD
+?/. - c.735T>G r.(?) p.(Tyr245*) Unknown - likely pathogenic g.94564383A>C g.94098827A>C ABCA4 c.735T>G, p.Tyr245 * - ABCA4_000371 only novel variants described in detail in the paper; original cohort contained over 750 patients from over 520 pedigrees, PubMed: Dockery 2017 - - Germline yes - - - - DNA SEQ-NG-I blood panel of 254 genes implicated in retinopathies retinal disease 7 PubMed: Dockery 2017 no patient numbers in the paper, consecutive numbers given ? - Ireland - - - - - 1 LOVD
+/. 6 c.735T>G r.(?) p.(Tyr245*) Unknown - pathogenic (recessive) g.94564383A>C - c.735T>G - ABCA4_000371 - PubMed: Khan 2020 - - Unknown ? - - - - DNA MIPsm - smMIPs-based complete ABCA4 gene retinal disease 71313 PubMed: Khan 2020 - F - - - - - - - 1 LOVD
+/. - c.735T>G r.(?) p.(Tyr245Ter) Unknown - pathogenic (recessive) g.94564383A>C g.94098827A>C - - ABCA4_000371 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Unknown - - - - - DNA SEQ-NG - - retinal disease L-0376 PubMed: Cornelis 2024, Journal: Cornelis 2024 - M - France - - - - - 1 Frans Cremers
+/. - c.735T>G r.(?) p.(Tyr245Ter) Parent #1 - pathogenic (recessive) g.94564383A>C g.94098827A>C - - ABCA4_000371 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Germline yes - - - - DNA SEQ-NG - - retinal disease L-0395 PubMed: Cornelis 2024, Journal: Cornelis 2024 - F - France - - - - - 1 Frans Cremers
+/. - c.735T>G r.(?) p.(Tyr245Ter) Unknown - pathogenic (recessive) g.94564383A>C g.94098827A>C - - ABCA4_000371 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease L-0494 PubMed: Cornelis 2024, Journal: Cornelis 2024 - F - France - - - - - 1 Frans Cremers
+/. - c.735T>G r.(?) p.(Tyr245Ter) Unknown - pathogenic (recessive) g.94564383A>C g.94098827A>C - - ABCA4_000371 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease L-0574 PubMed: Cornelis 2024, Journal: Cornelis 2024 - F - France - - - - - 1 Frans Cremers
+/. - c.735T>G r.(?) p.(Tyr245Ter) Parent #1 - pathogenic (recessive) g.94564383A>C g.94098827A>C - - ABCA4_000371 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Germline yes - - - - DNA SEQ - - retinal disease L-0587 PubMed: Cornelis 2024, Journal: Cornelis 2024 - M - France - - - - - 1 Frans Cremers
+/. - c.735T>G r.(?) p.(Tyr245Ter) Parent #1 - pathogenic (recessive) g.94564383A>C g.94098827A>C - - ABCA4_000371 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Germline yes - - - - DNA SEQ-NG - - retinal disease L-0621 PubMed: Cornelis 2024, Journal: Cornelis 2024 - F - France - - - - - 1 Frans Cremers
+/. - c.735T>G r.(?) p.(Tyr245Ter) Unknown - pathogenic (recessive) g.94564383A>C g.94098827A>C - - ABCA4_000371 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Unknown - - - - - DNA MCA, SEQ - - retinal disease L-0933 PubMed: Cornelis 2024, Journal: Cornelis 2024 - F - France - - - - - 1 Frans Cremers
+/. - c.735T>G r.(?) p.(Tyr245Ter) Parent #1 - pathogenic (recessive) g.94564383A>C g.94098827A>C - - ABCA4_000371 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Germline yes - - - - DNA SEQ-NG - - retinal disease L-1035 PubMed: Cornelis 2024, Journal: Cornelis 2024 - F - France - - - - - 1 Frans Cremers
+/. - c.735T>G r.(?) p.(Tyr245Ter) Parent #1 - pathogenic (recessive) g.94564383A>C g.94098827A>C - - ABCA4_000371 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Germline yes - - - - DNA SEQ-NG - - retinal disease L-1096 PubMed: Cornelis 2024, Journal: Cornelis 2024 - F - France - - - - - 1 Frans Cremers
+/. - c.735T>G r.(?) p.(Tyr245Ter) Unknown - pathogenic (recessive) g.94564383A>C g.94098827A>C - - ABCA4_000371 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Germline/De novo (untested) - - - - - DNA SEQ - - retinal disease MEH-mild-114 PubMed: Cornelis 2024, Journal: Cornelis 2024 - M - United Kingdom (Great Britain) - - - - - 1 Stéphanie Cornelis
+/. 6 c.735T>G r.(?) p.(Tyr245Ter) Parent #1 ACMG pathogenic g.94564383A>C g.94098827A>C c.735T>G(;)2549A>G - ABCA4_000371 - PubMed: Hitti-Malin 2024, Journal: Hitti-Malin 2024 - - Germline - - - - - DNA SEQ, SEQ-NG - smMIP-based 105 iMD/AMD genes macular dystrophy 074092 PubMed: Hitti-Malin 2024, Journal: Hitti-Malin 2024 - M - - - - - - - 1 Rebekkah Hitti-Malin
+/. 6 c.735T>G r.(735u>g) p.(Tyr245Ter) Parent #1 ACMG pathogenic g.94564383A>C g.94098827A>C - - ABCA4_000371 combination of variants not reported - - - Germline - - - - - DNA SEQ-NG - - STGD1 - - - - - Mexico - - - - - 1 Oscar Francisco Chacón Camacho
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