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.

20 entries on 1 page. Showing entries 1 - 20.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

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DNA change (genomic) (hg19)     

DNA change (hg38)     

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DB-ID     

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ClinVar ID     

dbSNP ID     

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Disease     

ID_report     

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Owner     
+?/. 22 c.3287C>T r.(?) p.(Ser1096Leu) Unknown - likely pathogenic g.94508358G>A g.94042802G>A c.3287C>T - ABCA4_000636 - PubMed: Riveiro-Alvarez 2013 - - Germline ? 1, 121358, 0, 0.00000824 - - - DNA PE, DHPLC, MCA, SEQ, MLPA, SEQ-NG - APEX STGD1 - PubMed: Riveiro-Alvarez 2013 - ? ? Spain ? - - - - 1 Stéphanie Cornelis
+/. 22 c.3287C>T r.(3287c>u) p.(Ser1096Leu) Parent #1 ACMG pathogenic (recessive) g.94508358G>A g.94042802G>A - - ABCA4_000636 - PubMed: Cornelis 2017, Journal: Cornelis 2017, Journal: Cornelis 2023 - - SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.3287C>T r.(?) p.(Ser1096Leu) Unknown - pathogenic g.94508358G>A g.94042802G>A - - ABCA4_000636 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 - rs763267492 Germline - 1/1204 cases with retinitis pigmentosa - - - DNA SEQ-NG - - retinal disease - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 analysis 1204 retinitis pigmentosa cases - - Japan - - - - - 1 Yoshito Koyanagi
+?/. - c.3287C>T r.(?) p.(Ser1096Leu) Paternal (confirmed) - likely pathogenic g.94508358G>A g.94042802G>A - - ABCA4_000636 - - - - Germline yes - - - - DNA SEQ-NG blood - STGD1 32 - - M - China - >43y - - - 1 Handong Dan
+?/. 22 c.3287C>T r.(?) p.(Ser1096Leu) Maternal (confirmed) other pathogenic (recessive) g.94508358G>A - - - ABCA4_000636 - - - rs763267492 Germline yes - - - - DNA SEQ-NG peripheral blood gene panel STGD1 F1:Ⅱ:2 - - F no China Asian >19y - yes none 1 Fangyuan Hu
+?/. - c.3287C>T r.(?) p.(Ser1096Leu) Parent #1 - likely pathogenic g.94508358G>A g.94042802G>A - - ABCA4_000636 - PubMed: Stone 2017 - - Germline - - - - - DNA SEQ-NG - - retinal disease 807 PubMed: Stone 2017 family, 2 affected M - (United States) - - - - - 2 LOVD
+?/. 22 c.3287C>T r.(?) p.(Ser1096Leu) Unknown - likely pathogenic (recessive) g.94508358G>A g.94042802G>A c.3287C>T (p.Ser1096Leu) - ABCA4_000636 no segregation analysis done PubMed: Zernant 2017 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease 3052 PubMed: Zernant 2017 - - ? United States - - - - - 1 Stéphanie Cornelis
+?/. 22 c.3287C>T r.(?) p.(Ser1096Leu) Parent #1 - likely pathogenic (recessive) g.94508358G>A g.94042802G>A c.3287C>T (p.Ser1096Leu) - ABCA4_000636 - PubMed: Zernant 2017 - - Unknown yes - - - - DNA SEQ-NG-I - - retinal disease 3969 PubMed: Zernant 2017 - - ? United States - - - - - 1 Stéphanie Cornelis
+?/. 22 c.3287C>T r.(?) p.(Ser1096Leu) Parent #1 - likely pathogenic (recessive) g.94508358G>A g.94042802G>A c.3287C>T Ser1096Leu TCG>TTG - ABCA4_000636 - PubMed: Stone 2017 - - Unknown yes - - - - DNA SEQ-NG-I - - retinal disease 807 PubMed: Stone 2017 - M ? - - - - - - 1 Stéphanie Cornelis
+?/. 22 c.3287C>T r.(?) p.(Ser1096Leu) Unknown - likely pathogenic (recessive) g.94508358G>A g.94042802G>A c.3287C>T p.(Ser1096Leu) - ABCA4_000636 - PubMed: Del Pozo-Valero 2020 - - Germline - - - - - DNA SEQ-NG - - retinal disease RP-1578 PubMed: Del Pozo-Valero 2020 - - ? Spain - - - - - 1 Stéphanie Cornelis
+?/. 22 c.3287C>T r.(?) p.(Ser1096Leu) Unknown - likely pathogenic (recessive) g.94508358G>A g.94042802G>A c.3287C>T p.(Ser1096Leu) - ABCA4_000636 no variant 2nd chromosome PubMed: Koyanagi 2019 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease Unknown 1273 PubMed: Koyanagi 2019 mutations were not reported per patient. - ? - Japan - - - - 1 Stéphanie Cornelis
+?/. 22 c.3287C>T r.(?) p.(Ser1096Leu) Unknown - likely pathogenic (recessive) g.94508358G>A g.94042802G>A c.3287C>T p.(Ser1096Leu) - ABCA4_000636 - PubMed: Hu 2020 - - Unknown - - - - - DNA arraySEQ - Target_Eye_792_V2 chip retinal disease F1:II:2 PubMed: Hu 2020 - F ? China Han - - - - 1 Stéphanie Cornelis
+?/. 22 c.3287C>T r.(?) p.(Ser1096Leu) Unknown - likely pathogenic (recessive) g.94508358G>A g.94042802G>A c.3287C>T - ABCA4_000636 no segregation analysis done PubMed: Sung 2020 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease F01 P01 PubMed: Sung 2020 - - ? - Han - - - - 1 Stéphanie Cornelis
+?/. 22 c.3287C>T r.(?) p.(Ser1096Leu) Unknown - likely pathogenic (recessive) g.94508358G>A g.94042802G>A c.3287C>T,p.Ser1096Leu - ABCA4_000636 - PubMed: Fujinami 2019 - - Unknown - - - - - DNA SEQ-NG - SEQ-NG (143 cases), APEX (44 cases), SSCP (24 cases), SEQ (134) retinal disease 12006 PubMed: Fujinami 2019 191 F, 154 M in this study - ? United States - - - - - 1 Stéphanie Cornelis
+?/. 22 c.3287C>T r.(?) p.(Ser1096Leu) Paternal (confirmed) - likely pathogenic (recessive) g.94508358G>A g.94042802G>A c.3287C>T p.(Ser1096Leu) - ABCA4_000636 - PubMed: Dan 2019 - - Unknown - - - - - DNA SEQ-NG - gene panel retinal disease 32 PubMed: Dan 2019 - M no China Han - - - - 1 Stéphanie Cornelis
+?/. 22 c.3287C>T r.(?) p.(Ser1096Leu) Unknown - likely pathogenic (recessive) g.94508358G>A g.94042802G>A c.3287C>T - ABCA4_000636 - PubMed: Liu 2020 - - Unknown yes - - - - DNA SEQ-NG - - retinal disease A027 PubMed: Liu 2020 - - ? China - - - - - 1 Stéphanie Cornelis
+?/. - c.3287C>T r.(?) p.(Ser1096Leu) Unknown ACMG likely pathogenic g.94508358G>A g.94042802G>A ABCA4 c.3287C>T(;)6190G>A, V1: c.3287C>T, (p.Ser1096Leu) - ABCA4_000636 alleles in cis or trans; heterozygous PubMed: Chen 2021 - - Unknown ? - - - - DNA SEQ-NG blood 212 inherited retinal disease-related genes retinal disease F028 PubMed: Chen 2021 - ? - Taiwan - - - - - 1 LOVD
+?/. - c.3287C>T r.(?) p.(Ser1096Leu) Unknown - likely pathogenic g.94508358G>A g.94042802G>A ABCA4 c.3287C>T(;)6190G>A; p.(Ser1096Leu) - ABCA4_000636 heterozygous PubMed: Chen 2021 - - Germline/De novo (untested) ? Taiwan Biobank: 0; GnomAD_exome_East: 0; GnomAD_All: 0.00000398 - - - DNA SEQ-NG - targeted 212 IRD-related genes retinal disease F028 PubMed: Chen 2021 - - - Taiwan - - - - - 1 LOVD
+/. - c.3287C>T r.(?) p.(Ser1096Leu) Parent #2 - pathogenic (recessive) g.94508358G>A g.94042802G>A - - ABCA4_000636 - PubMed: Tian 2024 - - Germline yes - - - - DNA SEQ - - retinal disease - PubMed: Tian 2024 - M - China - - - - - 1 Lu Tian
+/. - c.3287C>T r.(?) p.(Ser1096Leu) Both (homozygous) ACMG pathogenic (recessive) g.94508358G>A g.94042802G>A - - ABCA4_000636 ACMG PP3, PM2, PM1, PP2, PP5_STRONG PubMed: Weisschuh 2024 1184970 - Germline - - - - - DNA SEQ-NG - WGS ? MDS-391 PubMed: Weisschuh 2024 patient, no family history M - Germany - - - - - 1 Johan den Dunnen
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