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.

28 entries on 1 page. Showing entries 1 - 28.
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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     
+?/. 16 c.2549A>G r.(?) p.(Tyr850Cys) Unknown - likely pathogenic g.94520705T>C g.94055149T>C p.Tyr850Cys - ABCA4_000714 - PubMed: Oldani 2012 - - Germline - - - - - DNA PCR, SEQ - - STGD1 - PubMed: Oldani 2012 - ? ? - ? - - - - 1 Stéphanie Cornelis
+?/. 16 c.2549A>G r.(2549a>g) p.(Tyr850Cys) Parent #1 ACMG likely pathogenic (recessive) g.94520705T>C g.94055149T>C - - ABCA4_000714 - PubMed: Cornelis 2017, Journal: Cornelis 2017, Journal: Cornelis 2023 - - SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
+/. 16 c.2549A>G r.(?) p.(Tyr850Cys) Parent #1 - pathogenic (recessive) g.94520705T>C g.94055149T>C - - ABCA4_000714 - PubMed: Birtel 2018 - - Germline - - - - - DNA SEQ - - retinal disease Pat76 PubMed: Birtel 2018 patient M - Germany - - - - - 1 LOVD
+/. 16 c.2549A>G r.(?) p.(Tyr850Cys) Parent #2 - pathogenic g.94520705T>C g.94055149T>C - - ABCA4_000714 - PubMed: Bernardis 2016 - - Germline - - - - - DNA SEQ-NG - 72-gene panel retinal disease IRD062 PubMed: Bernardis 2016 - - Italy - - - - - 1 LOVD
+?/. 16 c.2549A>G r.(?) p.(Tyr850Cys) Unknown - likely pathogenic (recessive) g.94520705T>C g.94055149T>C p.Tyr850Cys - ABCA4_000714 - PubMed: Birtel 2018 - - Unknown - - - - - DNA SEQ - - retinal disease 76 PubMed: Birtel 2018 - M no Germany - - - - - 1 Stéphanie Cornelis
+?/. 16 c.2549A>G r.(?) p.(Tyr850Cys) Unknown - likely pathogenic (recessive) g.94520705T>C g.94055149T>C c.2549A>G - ABCA4_000714 - PubMed: Parker 2016 - - Unknown - - - - - DNA ? - - retinal disease 5 PubMed: Parker 2016 - - ? - - - - - - 1 Stéphanie Cornelis
+?/. 16 c.2549A>G r.(?) p.(Tyr850Cys) Both (homozygous) - likely pathogenic (recessive) g.94520705T>C g.94055149T>C c.[2549A>G;5882G>A] (p.[Tyr850Cys;Gly1961Glu]) - ABCA4_000714 no segregation analysis done PubMed: Zernant 2017 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease 9040 PubMed: Zernant 2017 - - ? United States - - - - - 1 Stéphanie Cornelis
+?/. 16 c.2549A>G r.(?) p.(Tyr850Cys) Unknown - likely pathogenic (recessive) g.94520705T>C g.94055149T>C Het NM_000350.2: c.2549A>G; - ABCA4_000714 - PubMed: Abed 2018 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease 22 PubMed: Abed 2018 - F ? Italy - - - - - 1 Stéphanie Cornelis
+?/. 16 c.2549A>G r.(?) p.(Tyr850Cys) Unknown - likely pathogenic (recessive) g.94520705T>C g.94055149T>C c.2549>G;P.Tyr850Cys - ABCA4_000714 - PubMed: Piccardi 2019 - - Unknown - - - - - DNA SSCA, SEQ - SSCP coding region of ABCA4 retinal disease 45. PubMed: Piccardi 2019 - F ? Italy - - - - - 1 Stéphanie Cornelis
+?/. 16 c.2549A>G r.(?) p.(Tyr850Cys) Unknown - likely pathogenic (recessive) g.94520705T>C g.94055149T>C het c.2549A>G p.Tyr850Cys - ABCA4_000714 - PubMed: Gliem 2020 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease 10 PubMed: Gliem 2020 - M ? Germany - - - - - 1 Stéphanie Cornelis
+?/. 16 c.2549A>G r.(?) p.(Tyr850Cys) Both (homozygous) - likely pathogenic (recessive) g.94520705T>C g.94055149T>C c.[2549A>G;5882G>A] (p.[Tyr850Cys;Gly1961Glu]) - ABCA4_000714 no segregation analysis done PubMed: Zernant 2017 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease 9040 PubMed: Zernant 2017 - - ? United States - - - - - 1 Stéphanie Cornelis
+?/. 16 c.2549A>G r.(?) p.(Tyr850Cys) Unknown - likely pathogenic (recessive) g.94520705T>C g.94055149T>C Het NM_000350: c.2549A>G:p.Y850C - ABCA4_000714 - PubMed: Abed 2018 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease 7 PubMed: Abed 2018 - M ? Italy - - - - - 1 Stéphanie Cornelis
+?/. 16 c.2549A>G r.(?) p.(Tyr850Cys) Unknown - likely pathogenic (recessive) g.94520705T>C g.94055149T>C Het NM_000350.2: c.2549A>G; - ABCA4_000714 - PubMed: Abed 2018 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease 20 PubMed: Abed 2018 - M ? Italy - - - - - 1 Stéphanie Cornelis
+?/. 16 c.2549A>G r.(?) p.(Tyr850Cys) Unknown - likely pathogenic (recessive) g.94520705T>C g.94055149T>C c.2459A>G; p.Tyr850Cys - ABCA4_000714 - PubMed: Piccardi 2019 - - Unknown - - - - - DNA SSCA, SEQ - SSCP coding region of ABCA4 retinal disease 24. PubMed: Piccardi 2019 - M ? Italy - - - - - 1 Stéphanie Cornelis
+?/. 16 c.2549A>G r.(?) p.(Tyr850Cys) Unknown - likely pathogenic (recessive) g.94520705T>C g.94055149T>C c.2549A>G p.(Tyr850Cys) - ABCA4_000714 - PubMed: Consugar 2015 - - Germline - - - - - DNA SEQ-NG - GEDi retinal disease OGI-288-602 PubMed: Consugar 2015 - - ? United States - - - - - 1 Stéphanie Cornelis
+?/. 16 c.2549A>G r.(?) p.(Tyr850Cys) Unknown - likely pathogenic (recessive) g.94520705T>C g.94055149T>C c.2549A>G - ABCA4_000714 - PubMed: Bernardis 2016 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease IRD062 PubMed: Bernardis 2016 - - ? Italy - - - - - 1 Stéphanie Cornelis
+?/. 16 c.2549A>G r.(?) p.(Tyr850Cys) Parent #1 - likely pathogenic (recessive) g.94520705T>C - c.[2549A>G;5882G>A] - ABCA4_000714 unknown variant 2nd chromosome PubMed: Khan 2020 - - Unknown ? - - - - DNA MIPsm - smMIPs-based complete ABCA4 gene retinal disease 70937 PubMed: Khan 2020 - F - Australia - - - - - 1 LOVD
+?/. 16 c.2549A>G r.(?) p.(Tyr850Cys) Unknown - likely pathogenic (recessive) g.94520705T>C - c.2549A>G - ABCA4_000714 - PubMed: Khan 2020 - - Unknown - - - - - DNA MIPsm - smMIPs-based complete ABCA4 gene retinal disease 70956 PubMed: Khan 2020 - F - Australia - - - - - 1 LOVD
+/. 16 c.2549A>G r.(?) p.(Tyr850Cys) Parent #1 - pathogenic g.94520705T>C g.94055149T>C c.[2549A>G;4667+5G>T; 5882G>A] - ABCA4_000714 - PubMed: Huang 2022 - - Germline - - - - - DNA, RNA RT-PCR, SEQ - - retinal disease Pat26 PubMed: Huang 2022 - - - Australia - - - - - 1 Johan den Dunnen
+?/. 16 c.2549A>G r.(?) p.(Tyr850Cys) Paternal (confirmed) ACMG likely pathogenic (recessive) g.94520705T>C - c.[2549A>G;5882G>A], p.[(Tyr850Cys;Gly1961Glu)] - ABCA4_000714 Complex allele Bianco 2023, submitted - - Germline yes - - - - DNA SEQ-NG-I Peripheral Blood Sample - STGD1 601691#57 Bianco 2023, submitted - M no Italy - - - - - 2 Lorenzo Bianco
+?/. 16 c.2549A>G r.(?) p.(Tyr850Cys) Paternal (confirmed) ACMG likely pathogenic (recessive) g.94520705T>C - c.[2549A>G;5882G>A], p.[(Tyr850Cys;Gly1961Glu)] - ABCA4_000714 Complex allele Bianco 2023, submitted - - Germline yes - - - - DNA SEQ-NG-I Peripheral Blood Sample - STGD1 601691#58 Bianco 2023, submitted - M no Italy - - - - - 1 Lorenzo Bianco
+?/. 16 c.2549A>G r.(?) p.(Tyr850Cys) Unknown ACMG likely pathogenic (recessive) g.94520705T>C g.94055149T>C - - ABCA4_000714 - PubMed: Corradi 2023, Journal: Corradi 2023 - - Germline - - - - - DNA MIPsm, SEQ-NG - - retinal disease Pat185 PubMed: Corradi 2023, Journal: Corradi 2023 - M - - - - - - - 1 Zelia Corradi
+?/. 16 c.2549A>G r.(?) p.(Tyr850Cys) Parent #2 ACMG likely pathogenic (recessive) g.94520705T>C g.94055149T>C c.[2549A>G;4667+5G>T;5882G>A ] - ABCA4_000714 - PubMed: Corradi 2023, Journal: Corradi 2023 - - Germline yes - - - - DNA MIPsm, SEQ-NG - - retinal disease Pat141 PubMed: Corradi 2023, Journal: Corradi 2023 - F - - - - - - - 1 Zelia Corradi
+?/. 16 c.2549A>G r.(?) p.(Tyr850Cys) Parent #2 ACMG likely pathogenic (recessive) g.94520705T>C g.94055149T>C c.[2549A>G;4667+5G>T;5882G>A ] - ABCA4_000714 - PubMed: Corradi 2023, Journal: Corradi 2023 - - Germline yes - - - - DNA MIPsm, SEQ-NG - - retinal disease Pat142 PubMed: Corradi 2023, Journal: Corradi 2023 - F - - - - - - - 1 Zelia Corradi
+?/. 16 c.2549A>G r.(?) p.(Tyr850Cys) Parent #2 ACMG likely pathogenic (recessive) g.94520705T>C g.94055149T>C c.[2549A>G;4667+5G>T;5882G>A ] - ABCA4_000714 - PubMed: Corradi 2023, Journal: Corradi 2023 - - Germline yes - - - - DNA MIPsm, SEQ-NG - - retinal disease Pat143 PubMed: Corradi 2023, Journal: Corradi 2023 - M - - - - - - - 1 Zelia Corradi
+?/. 16 c.2549A>G r.(?) p.(Tyr850Cys) Parent #2 ACMG likely pathogenic (recessive) g.94520705T>C g.94055149T>C c.[2549A>G;4667+5G>T;5882G>A ] - ABCA4_000714 - PubMed: Corradi 2023, Journal: Corradi 2023 - - Germline yes - - - - DNA MIPsm, SEQ-NG - - retinal disease Pat144 PubMed: Corradi 2023, Journal: Corradi 2023 - M - - - - - - - 1 Zelia Corradi
+?/. - c.2549A>G r.(?) p.(Tyr850Cys) Parent #1 - likely pathogenic (recessive) g.94520705T>C g.94055149T>C - - ABCA4_000714 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Germline yes - - - - DNA SEQ-NG - - retinal disease L-0152 PubMed: Cornelis 2024, Journal: Cornelis 2024 - F - France - - - - - 1 Frans Cremers
+/. 16 c.2549A>G r.(?) p.(Tyr850Cys) Unknown ACMG pathogenic g.94520705T>C g.94055149T>C c.735T>G(;)2549A>G - ABCA4_000714 - 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
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