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.

30 entries on 1 page. Showing entries 1 - 30.
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Effect     

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AscendingDNA change (cDNA)     

RNA change     

Protein     

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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     

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Methylation     

Template     

Technique     

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Remarks     

Disease     

ID_report     

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Gender     

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Age at death     

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Owner     
+?/. 42 c.5885T>A r.(?) p.(Val1962Asp) Parent #1 - likely pathogenic g.94473804A>T - 5885T>A (V1962D) - ABCA4_000854 - PubMed: Downs 2007 - - Germline - - - - - DNA SEQ blood - retinal disease - PubMed: Downs 2007 - - - - - - - - - 1 Julia Lopez
+?/. 42 c.5885T>A r.(?) p.(Val1962Asp) Unknown - likely pathogenic (recessive) g.94473804A>T g.94008248A>T 5885T?A V1962D - ABCA4_000854 no variant 2nd chromosome PubMed: Downs 2007 - - Unknown - - - - - DNA SEQ - - retinal disease Unknown 45 PubMed: Downs 2007 - - ? United States - - - - - 1 Stéphanie Cornelis
?/. 42 c.5885T>A r.(?) p.(Val1962Asp) Unknown ACMG VUS g.94473804A>T g.94008248A>T - - ABCA4_000854 ACMG PM2_sup, PP3_m; severity category not assesed Journal: Cornelis 2023 - - SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
+/. 48 c.6718A>G r.(?) p.(Thr2240Ala) Unknown - pathogenic g.94463428T>C g.93997872T>C c.6718A>G - ABCA4_000854 - PubMed: Zernant 2011 - - Germline - 2, 121086, 0, 0.00001652 - - - DNA PE, SEQ-NG, SEQ - APEX ? - PubMed: Zernant 2011 - ? ? - ? - - - - 1 Stéphanie Cornelis
?/. 48 c.6718A>G r.(?) p.(Thr2240Ala) Unknown - VUS g.94463428T>C g.93997872T>C c.6718A>G - ABCA4_000854 - PubMed: Riveiro-Alvarez 2013 - - Germline - 2, 121086, 0, 0.00001652 - - - DNA PE, DHPLC, MCA, SEQ, MLPA, SEQ-NG - APEX STGD1 - PubMed: Riveiro-Alvarez 2013 - ? ? Spain ? - - - - 1 Stéphanie Cornelis
+/. 48 c.6718A>G r.(6718a>g) p.(Thr2240Ala) Parent #1 ACMG pathogenic (recessive) g.94463428T>C g.93997872T>C - - ABCA4_000854 variant significantly enriched in >3000 likely Caucasian STGD1 patients compared to the non-Finnish ExAC population PubMed: Cornelis 2017, Journal: Cornelis 2017, Journal: Cornelis 2023 - - SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 48 c.6718A>G r.(?) p.(Thr2240Ala) Parent #1 - likely pathogenic g.94463428T>C g.93997872T>C - - ABCA4_000854 unknown variant 2nd allele PubMed: Khan 2019 - - Unknown no - - - - DNA SEQ, MIPsm - - STGD1 ? PubMed: Khan 2019 - - - France - - - - - 1 Stéphanie Cornelis
+?/. 48 c.6718A>G r.(?) p.(Thr2240Ala) Both (homozygous) ACMG likely pathogenic g.94463428T>C - - - ABCA4_000854 - Mena et al., 2020 submitted - - Germline ? - - - - DNA SEQ-NG-IT blood gene panel (ABCA4, CNGB3, ELOVL4, PROM1) STGD1 - Mena et al., 2020 submitted. - M ? Argentina - - - - - 1 Marcela Mena
+?/. 48 c.6718A>G r.(?) p.(Thr2240Ala) Unknown ACMG likely pathogenic g.94463428T>C - - - ABCA4_000854 - Mena et al., 2020 submitted - - De novo ? - - - - DNA SEQ-NG-IT blood gene panel (ABCA4, CNGB3, ELOVL4, PROM1) STGD1 - Mena et al., 2020 submitted - M no Argentina - - - - - 1 Marcela Mena
+?/. 48 c.6718A>G r.(?) p.(Thr2240Ala) Parent #1 - likely pathogenic g.94463428T>C - 6718A>G (T2240A) - ABCA4_000854 - PubMed: Downs 2007 - - Germline - - - - - DNA SEQ blood - retinal disease - PubMed: Downs 2007 - - - - - - - - - 1 Julia Lopez
?/. 48 c.6718A>G r.(?) p.(Thr2240Ala) Unknown - VUS g.94463428T>C g.93997872T>C 6718A?G T2240A - ABCA4_000854 no variant 2nd chromosome PubMed: Downs 2007 - - Unknown - - - - - DNA SEQ - - retinal disease Unknown 46 PubMed: Downs 2007 - - ? United States - - - - - 1 Stéphanie Cornelis
?/. 48 c.6718A>G r.(?) p.(Thr2240Ala) Unknown - VUS g.94463428T>C g.93997872T>C c.6718A>G p.Thr2240Ala Het - ABCA4_000854 no variant 2nd chromosome Prevention Genetics - - Unknown - - - - - DNA SEQ-NG - IRD panel retinal disease 2019-197-320 Prevention Genetics - - ? - - - - - - 1 Stéphanie Cornelis
?/. 48 c.6718A>G r.(?) p.(Thr2240Ala) Unknown - VUS g.94463428T>C g.93997872T>C c.6718A>G, p.Thr2240Ala Heterozygous - ABCA4_000854 no variant 2nd chromosome PubMed: Goetz 2020 - - Unknown - 2, 121086, 0, 0.00001652 - - - DNA SEQ - - retinal disease 5239-6333 PubMed: Goetz 2020 - - ? - - - - - - 1 Stéphanie Cornelis
?/. 48 c.6718A>G r.(?) p.(Thr2240Ala) Unknown - VUS g.94463428T>C g.93997872T>C c.6718A>G (p.Thr2240Ala) - ABCA4_000854 no segregation analysis done PubMed: Zernant 2017 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease 3188 PubMed: Zernant 2017 - - ? United States - - - - - 1 Stéphanie Cornelis
?/. 48 c.6718A>G r.(?) p.(Thr2240Ala) Parent #1 - VUS g.94463428T>C g.93997872T>C c.[3386G>T;6718A>G] p.[Arg1129Leu;Thr2240Ala] - ABCA4_000854 - PubMed: Del Pozo-Valero 2020 - - Germline - - - - - DNA SEQ-NG - - retinal disease MD-0675 PubMed: Del Pozo-Valero 2020 - - ? Spain - - - - - 1 Stéphanie Cornelis
?/. 48 c.6718A>G r.(?) p.(Thr2240Ala) Unknown - VUS g.94463428T>C g.93997872T>C c.6718A>G p.(Thr2240Ala) - ABCA4_000854 - PubMed: Del Pozo-Valero 2020 - - Germline - - - - - DNA SEQ-NG - - retinal disease MD-0717 PubMed: Del Pozo-Valero 2020 - - ? Spain - - - - - 1 Stéphanie Cornelis
?/. 48 c.6718A>G r.(?) p.(Thr2240Ala) Parent #2 - VUS g.94463428T>C g.93997872T>C c.6718A>G p.(Thr2240Ala) - ABCA4_000854 - PubMed: Del Pozo-Valero 2020 - - Germline yes - - - - DNA SEQ-NG - - retinal disease MD-0846 PubMed: Del Pozo-Valero 2020 - - ? Spain - - - - - 1 Stéphanie Cornelis
?/. 48 c.6718A>G r.(?) p.(Thr2240Ala) Unknown - VUS g.94463428T>C g.93997872T>C c.[3386G>T;6718A>G] p.[Arg1129Leu;Thr2240Ala] - ABCA4_000854 - PubMed: Del Pozo-Valero 2020 - - Germline - - - - - DNA SEQ-NG - - retinal disease MD-0946 PubMed: Del Pozo-Valero 2020 - - ? Spain - - - - - 1 Stéphanie Cornelis
?/. 48 c.6718A>G r.(?) p.(Thr2240Ala) Unknown - VUS g.94463428T>C g.93997872T>C c.6718A>G p.(Thr2240Ala) - ABCA4_000854 - PubMed: Del Pozo-Valero 2020 - - Germline - - - - - DNA SEQ-NG - - retinal disease MD-0980 PubMed: Del Pozo-Valero 2020 - - ? Spain - - - - - 1 Stéphanie Cornelis
?/. 48 c.6718A>G r.(?) p.(Thr2240Ala) Parent #1 - VUS g.94463428T>C g.93997872T>C c.[3386G>T;6718A>G] p.[Arg1129Leu;Thr2240Ala] - ABCA4_000854 - PubMed: Del Pozo-Valero 2020 - - Germline yes - - - - DNA SEQ-NG - - retinal disease MD-1102 PubMed: Del Pozo-Valero 2020 - - ? Spain - - - - - 1 Stéphanie Cornelis
?/. 48 c.6718A>G r.(?) p.(Thr2240Ala) Unknown - VUS g.94463428T>C g.93997872T>C c.6718A>G p.(Thr2240Ala) - ABCA4_000854 - PubMed: Del Pozo-Valero 2020 - - Germline - - - - - DNA SEQ-NG - - retinal disease MD-1110 PubMed: Del Pozo-Valero 2020 - - ? Spain - - - - - 1 Stéphanie Cornelis
?/. 48 c.6718A>G r.(?) p.(Thr2240Ala) Unknown - VUS g.94463428T>C g.93997872T>C c.6718A>G p.(Thr2240Ala) - ABCA4_000854 - PubMed: Del Pozo-Valero 2020 - - Germline - - - - - DNA SEQ-NG - - retinal disease MD-1121 PubMed: Del Pozo-Valero 2020 - - ? Spain - - - - - 1 Stéphanie Cornelis
?/. 48 c.6718A>G r.(?) p.(Thr2240Ala) Unknown - VUS g.94463428T>C g.93997872T>C c.6718A>G p.(Thr2240Ala) - ABCA4_000854 - PubMed: Del Pozo-Valero 2020 - - Germline - - - - - DNA SEQ-NG - - retinal disease MD-1236 PubMed: Del Pozo-Valero 2020 - - ? Spain - - - - - 1 Stéphanie Cornelis
?/. 48 c.6718A>G r.(?) p.(Thr2240Ala) Both (homozygous) - VUS g.94463428T>C g.93997872T>C c.[3386G>T;6718A>G] p.[Arg1129Leu;Thr2240Ala] - ABCA4_000854 - PubMed: Del Pozo-Valero 2020 - - Germline yes - - - - DNA SEQ-NG - - retinal disease MD-1273 PubMed: Del Pozo-Valero 2020 - - ? Spain - - - - - 1 Stéphanie Cornelis
+?/. - c.6718A>G r.(?) p.(Thr2240Ala) Unknown ACMG likely pathogenic g.94463428T>C g.93997872T>C ABCA4 c.6718A>G, p.(Thr2240Ala) - ABCA4_000854 heterozygous PubMed: Dineiro 2020 - - Germline ? - - - - DNA SEQ-NG-I, SEQ blood, saliva targeted sequencing with 1 of 4 panels of OFTALMOgenics probes retinal disease OFTALMO.076 PubMed: Dineiro 2020 - ? - Spain - - - - - 1 LOVD
?/. 48 c.6718A>G r.(?) p.(Thr2240Ala) Unknown - VUS g.94463428T>C - c.6718A>G - ABCA4_000854 unknown variant 2nd chromosome PubMed: Khan 2020 - - Unknown ? - - - - DNA MIPsm - smMIPs-based complete ABCA4 gene retinal disease 67294 PubMed: Khan 2019PubMed: Khan 2020 - F - France - - - - - 1 LOVD
+/. - c.6718A>G r.(?) p.(Thr2240Ala) Unknown ACMG pathogenic g.94463428T>C - - - ABCA4_000854 - Villafuerte-de la Cruz RA, et al., 2023. Submitted ClinVar-941626 rs779585931 Germline yes - - - - DNA SEQ-NG-I buccal swab - STGD 2694948 Villafuerte-de la Cruz RA, et al., 2023. Submitted - F no Mexico Hispanic - - - none 1 Rocio Villafuerte-de la Cruz
+/. - c.6718A>G r.(?) p.(Thr2240Ala) Parent #1 - pathogenic (recessive) g.94463428T>C g.93997872T>C - - ABCA4_000854 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Germline yes - - - - DNA MCA, SEQ - - retinal disease L-0921 PubMed: Cornelis 2024, Journal: Cornelis 2024 - F - France - - - - - 1 Frans Cremers
+?/. - c.6718A>G r.(?) p.(Thr2240Ala) Unknown ACMG likely pathogenic g.94463428T>C g.93997872T>C - - ABCA4_000854 case unsolved PubMed: Hitti-Malin 2024, Journal: Hitti-Malin 2024 - - Germline - - - - - DNA SEQ - smMIP-based 105 iMD/AMD genes macular dystrophy 067294 PubMed: Hitti-Malin 2024, Journal: Hitti-Malin 2024 - - - - - - - - - 1 Johan den Dunnen
+?/. 48 c.6718A>G r.(6718a>g) p.(Thr2240Ala) Parent #1 ACMG likely pathogenic g.94463428T>C g.93997872T>C - - ABCA4_000854 combination of variants not reported - - - Germline - - - - - DNA SEQ-NG - - STGD1 - - - - - Mexico - - - - - 1 Oscar Francisco Chacón Camacho
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