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.

51 entries on 1 page. Showing entries 1 - 51.
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DNA change (genomic) (hg19)     

DNA change (hg38)     

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+?/. 10 c.1253T>C r.(?) p.(Phe418Ser) Unknown - likely pathogenic g.94544249A>G g.94078693A>G c.1253T>C - ABCA4_000323 - PubMed: Zernant 2011 - - Germline ? - - - - DNA PE, SEQ-NG, SEQ - APEX ? - PubMed: Zernant 2011 - ? ? - ? - - - - 1 Stéphanie Cornelis
+/. 10 c.1253T>C r.(?) p.(Phe418Ser) Unknown - pathogenic g.94544249A>G g.94078693A>G 1253T>C - ABCA4_000323 - PubMed: Downes 2012 - - Germline - - - - - DNA SEQ, MLPA - - STGD1 - PubMed: Downes 2012 - ? ? - ? - - - - 1 Stéphanie Cornelis
+?/. 10 c.1253T>C r.(?) p.(Phe418Ser) Unknown - likely pathogenic g.94544249A>G g.94078693A>G p.Phe418Ser - ABCA4_000323 - PubMed: Fujinami 2013 - - Germline - - - - - DNA PCR, SEQ - - STGD1 - PubMed: Fujinami 2013 - ? ? - ? - - - - 1 Stéphanie Cornelis
+?/. 10 c.1253T>C r.(?) p.(Phe418Ser) Unknown - likely pathogenic g.94544249A>G g.94078693A>G c.1253T>C, p.Phe418Ser - ABCA4_000323 - PubMed: Fujinami 2013 - - Germline - - - - - DNA SSCA, PE - APEX ? - PubMed: Fujinami 2013 - ? ? - ? - - - - 1 Stéphanie Cornelis
+/. 10 c.1253T>C r.(?) p.(Phe418Ser) Paternal (confirmed) - pathogenic g.94544249A>G g.94078693A>G c.1253T>C/c.656G>C - ABCA4_000323 - PubMed: Müller 2015 - - Germline - - - - - DNA SEQ - - ? - PubMed: Müller 2015 ? ? ? Germany white - - - - 1 Stéphanie Cornelis
+?/. 10 c.1253T>C r.(1253u>c) p.(Phe418Ser) Parent #1 ACMG likely pathogenic (recessive) g.94544249A>G g.94078693A>G - - ABCA4_000323 - PubMed: Cornelis 2017, Journal: Cornelis 2017, Journal: Cornelis 2023 - - SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1253T>C r.(?) p.(Phe418Ser) Parent #1 - pathogenic (recessive) g.94544249A>G g.94078693A>G - - ABCA4_000323 - PubMed: Lionel 2018 - - Germline - - - - - DNA SEQ-NG - WGS RD 28771251-Pat20 PubMed: Lionel 2018 - M - Canada - - - - - 1 Johan den Dunnen
+?/. 10 c.1253T>C r.(?) p.(Phe418Ser) Parent #1 - likely pathogenic g.94544249A>G g.94078693A>G - - ABCA4_000323 - PubMed: Khan 2019 - - Unknown no - - - - DNA SEQ, MIPsm - - STGD1 ? PubMed: Khan 2019 - - - France - - - - - 1 Stéphanie Cornelis
+?/. - c.1253T>C r.(?) p.(Phe418Ser) Parent #2 - likely pathogenic (recessive) g.94544249A>G g.94078693A>G - - ABCA4_000323 - PubMed: Taylor 2017 - - Germline - - - - - DNA SEQ-NG - gene panel retinal disease 16004627 PubMed: Taylor 2017 no family history retinal disease M - United Kingdom (Great Britain) - - - - - 1 LOVD
+/. 10 c.1253T>C r.(?) p.(Phe418Ser) Parent #1 - pathogenic (recessive) g.94544249A>G g.94078693A>G - - ABCA4_000323 - PubMed: Birtel 2018 - - Germline - - - - - DNA SEQ-NG - - retinal disease Pat6 PubMed: Birtel 2018 patient M - Germany - - - - - 1 LOVD
+?/. - c.1253T>C r.(?) p.(Phe418Ser) Unknown - likely pathogenic g.94544249A>G g.94078693A>G - - ABCA4_000323 no variant 2nd chromosome PubMed: Stone 2017 - - Germline - - - - - DNA SEQ-NG - - retinal disease 813 PubMed: Stone 2017 1 affected F - (United States) - - - - - 1 LOVD
+?/. - c.1253T>C r.(?) p.(Phe418Ser) Parent #2 - likely pathogenic g.94544249A>G g.94078693A>G - - ABCA4_000323 - PubMed: Stone 2017 - - Germline - - - - - DNA SEQ-NG - - retinal disease 741 PubMed: Stone 2017 1 affected F - (United States) - - - - - 1 LOVD
+?/. 10 c.1253T>C r.(?) p.(Phe418Ser) Unknown - likely pathogenic (recessive) g.94544249A>G g.94078693A>G p.Phe418Ser - ABCA4_000323 - PubMed: Birtel 2018 - - Unknown - - - - - DNA SEQ-NG - - retinal disease 6 PubMed: Birtel 2018 - M no Germany - - - - - 1 Stéphanie Cornelis
+?/. 10 c.1253T>C r.(?) p.(Phe418Ser) Unknown - likely pathogenic (recessive) g.94544249A>G g.94078693A>G ABCA4 c.1253T>C, p.(Phe418Ser) - ABCA4_000323 - PubMed: Taylor 2017 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease 16004627 PubMed: Taylor 2017 - M ? United Kingdom (Great Britain) - - - - - 1 Stéphanie Cornelis
+?/. 10 c.1253T>C r.(?) p.(Phe418Ser) Unknown - likely pathogenic (recessive) g.94544249A>G g.94078693A>G c.1253T>C (p.Phe418Ser) - ABCA4_000323 no segregation analysis done PubMed: Zernant 2017 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease 3155 PubMed: Zernant 2017 - - ? United States - - - - - 1 Stéphanie Cornelis
+?/. 10 c.1253T>C r.(?) p.(Phe418Ser) Parent #1 - likely pathogenic (recessive) g.94544249A>G g.94078693A>G c.1253T>C (p.Phe418Ser) - ABCA4_000323 - PubMed: Zernant 2017 - - Unknown yes - - - - DNA SEQ-NG-I - - retinal disease 3237 PubMed: Zernant 2017 - - ? United States - - - - - 1 Stéphanie Cornelis
+?/. 10 c.1253T>C r.(?) p.(Phe418Ser) Unknown - likely pathogenic (recessive) g.94544249A>G g.94078693A>G c.1253T>C Phe418Ser TTT>TCT - ABCA4_000323 no variant 2nd chromosome; no segregation analysis done PubMed: Stone 2017 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease 813 PubMed: Stone 2017 - F ? - - - - - - 1 Stéphanie Cornelis
+?/. 10 c.1253T>C r.(?) p.(Phe418Ser) Both (homozygous) - likely pathogenic (recessive) g.94544249A>G g.94078693A>G c.1253T.C p.Phe418Ser - ABCA4_000323 - PubMed: Tanna 2019 - - Unknown - - - - - DNA ? - - retinal disease P17 PubMed: Tanna 2019 - M ? - - - - - - 1 Stéphanie Cornelis
+?/. 10 c.1253T>C r.(?) p.(Phe418Ser) Unknown - likely pathogenic (recessive) g.94544249A>G g.94078693A>G c.1253T.C p.Phe418Ser - ABCA4_000323 - PubMed: Tanna 2019 - - Unknown - - - - - DNA ? - - retinal disease P20 PubMed: Tanna 2019 - M ? - - - - - - 1 Stéphanie Cornelis
+?/. 10 c.1253T>C r.(?) p.(Phe418Ser) Unknown - likely pathogenic (recessive) g.94544249A>G g.94078693A>G c.1253T.C p.Phe418Ser - ABCA4_000323 - PubMed: Tanna 2019 - - Unknown - - - - - DNA ? - - retinal disease P42 PubMed: Tanna 2019 - M ? - - - - - - 1 Stéphanie Cornelis
+?/. 10 c.1253T>C r.(?) p.(Phe418Ser) Unknown - likely pathogenic (recessive) g.94544249A>G g.94078693A>G c.1253T>C p.(Phe418Ser) - ABCA4_000323 no segregation analysis done PubMed: Khan 2019 - - Unknown - - - - - DNA SEQ-NG, MIPsm - smMIPs of exons and few intronic regions retinal disease 67207 PubMed: Khan 2019 - - ? France - - - - - 1 Stéphanie Cornelis
+?/. 10 c.1253T>C r.(?) p.(Phe418Ser) Unknown - likely pathogenic (recessive) g.94544249A>G g.94078693A>G c.1253T>C p.Phe418Ser - ABCA4_000323 no segregation analysis done PubMed: Hull 2020 - - Unknown - - - - - DNA PE, SEQ-NG - APEX or SEQ-NG retinal disease Unknown 1120 PubMed: Hull 2020 - - ? New Zealand white - - - - 1 Stéphanie Cornelis
+?/. 10 c.1253T>C r.(?) p.(Phe418Ser) Unknown - likely pathogenic (recessive) g.94544249A>G g.94078693A>G het c.1253T>C p.Phe418Ser - ABCA4_000323 - PubMed: Gliem 2020 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease 26 PubMed: Gliem 2020 - M ? Germany - - - - - 1 Stéphanie Cornelis
+?/. 10 c.1253T>C r.(?) p.(Phe418Ser) Unknown - likely pathogenic (recessive) g.94544249A>G g.94078693A>G c.1253T>C p.Phe418Ser - ABCA4_000323 - PubMed: Georgiou 2019 - - Unknown - - - - - DNA ? - - retinal disease MM_0428 PubMed: Georgiou 2019 - M ? United Kingdom (Great Britain) - - - - - 1 Stéphanie Cornelis
+?/. 10 c.1253T>C r.(?) p.(Phe418Ser) Unknown - likely pathogenic (recessive) g.94544249A>G g.94078693A>G c.1253T>C, p.Phe418Ser Heterozygous - ABCA4_000323 - PubMed: Goetz 2020 - - Unknown - - - - - DNA SEQ-NG-I - solid state SBS retinal disease 2250-2907 PubMed: Goetz 2020 - - ? - - - - - - 1 Stéphanie Cornelis
+?/. 10 c.1253T>C r.(?) p.(Phe418Ser) Unknown - likely pathogenic (recessive) g.94544249A>G g.94078693A>G c.1253T>C, p.Phe418Ser Heterozygous - ABCA4_000323 no variant 2nd chromosome PubMed: Goetz 2020 - - Unknown - - - - - DNA SEQ-NG-I - solid state SBS retinal disease 4497-5444 PubMed: Goetz 2020 - - ? - - - - - - 1 Stéphanie Cornelis
+?/. 10 c.1253T>C r.(?) p.(Phe418Ser) Parent #2 - likely pathogenic (recessive) g.94544249A>G g.94078693A>G c.1253T>C Phe418Ser TTT>TCT - ABCA4_000323 - PubMed: Stone 2017 - - Unknown yes - - - - DNA SEQ-NG-I - - retinal disease 741 PubMed: Stone 2017 - F ? - - - - - - 1 Stéphanie Cornelis
+?/. 10 c.1253T>C r.(?) p.(Phe418Ser) Unknown - likely pathogenic (recessive) g.94544249A>G g.94078693A>G c.1253T>C p.(F418S) - ABCA4_000323 - PubMed: Lee 2018 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease 4 PubMed: Lee 2018 - F ? United States white - - - - 1 Stéphanie Cornelis
+?/. 10 c.1253T>C r.(?) p.(Phe418Ser) Unknown - likely pathogenic (recessive) g.94544249A>G g.94078693A>G c.1253T>C p.Phe418Ser - ABCA4_000323 - PubMed: Georgiou 2019 - - Unknown - - - - - DNA ? - - retinal disease MM_0409 PubMed: Georgiou 2019 - F ? United Kingdom (Great Britain) - - - - - 1 Stéphanie Cornelis
+?/. 10 c.1253T>C r.(?) p.(Phe418Ser) Unknown - likely pathogenic (recessive) g.94544249A>G g.94078693A>G c.1253T>C, p.Phe418Ser Heterozygous - ABCA4_000323 - PubMed: Goetz 2020 - - Unknown - - - - - DNA SEQ - - retinal disease 4494-5443 PubMed: Goetz 2020 - - ? - - - - - - 1 Stéphanie Cornelis
+?/. 10 c.1253T>C r.(?) p.(Phe418Ser) Unknown - likely pathogenic (recessive) g.94544249A>G g.94078693A>G c.1253T>C, p.Phe418Ser Heterozygous - ABCA4_000323 - PubMed: Goetz 2020 - - Unknown - - - - - DNA SEQ-NG-I - solid state SBS retinal disease 6153-7530 PubMed: Goetz 2020 - - ? - - - - - - 1 Stéphanie Cornelis
+?/. 10 c.1253T>C r.(?) p.(Phe418Ser) Unknown - likely pathogenic (recessive) g.94544249A>G - c.1253T>C - ABCA4_000323 - PubMed: Khan 2020 - - Unknown - - - - - DNA MIPsm - smMIPs-based complete ABCA4 gene retinal disease 70557 PubMed: Khan 2020 - F - South Africa - - - - - 1 LOVD
+?/. 10 c.1253T>C r.(?) p.(Phe418Ser) Unknown - likely pathogenic (recessive) g.94544249A>G - c.1253T>C - ABCA4_000323 - PubMed: Khan 2020 - - Unknown - - - - - DNA MIPsm - smMIPs-based complete ABCA4 gene retinal disease 70644 PubMed: Khan 2020 - F - South Africa - - - - - 1 LOVD
+?/. 10 c.1253T>C r.(?) p.(Phe418Ser) Unknown - likely pathogenic (recessive) g.94544249A>G - c.1253T>C - ABCA4_000323 - PubMed: Khan 2020 - - Unknown - - - - - DNA MIPsm - smMIPs-based complete ABCA4 gene retinal disease 70646 PubMed: Khan 2020 - M - South Africa - - - - - 1 LOVD
+/. 10 c.1253T>C r.(?) p.(Phe418Ser) Parent #1 - pathogenic g.94544249A>G g.94078693A>G - - ABCA4_000323 - PubMed: Huang 2022 - - Germline - - - - - DNA, RNA RT-PCR, SEQ - - retinal disease Pat42 PubMed: Huang 2022 - - - Australia - - - - - 1 Johan den Dunnen
+?/. - c.1253T>C r.(?) p.(Phe418Ser) Unknown - likely pathogenic (recessive) g.94544249A>G g.94078693A>G - - ABCA4_000323 no variant 2nd chromosome PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Unknown - - - - - DNA SEQ-NG - - retinal disease L-0299 PubMed: Cornelis 2024, Journal: Cornelis 2024 - F - France - - - - - 1 Frans Cremers
+?/. - c.1253T>C r.(?) p.(Phe418Ser) Unknown - likely pathogenic (recessive) g.94544249A>G g.94078693A>G - - ABCA4_000323 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Unknown - - - - - DNA SEQ-NG - - retinal disease L-0444 PubMed: Cornelis 2024, Journal: Cornelis 2024 - F - France - - - - - 1 Frans Cremers
+?/. - c.1253T>C r.(?) p.(Phe418Ser) Unknown - likely pathogenic (recessive) g.94544249A>G g.94078693A>G - - ABCA4_000323 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Germline/De novo (untested) - - - - - DNA SEQ - - retinal disease MEH-mild-12 PubMed: Cornelis 2024, Journal: Cornelis 2024 - F - United Kingdom (Great Britain) - - - - - 1 Stéphanie Cornelis
+?/. - c.1253T>C r.(?) p.(Phe418Ser) Unknown - likely pathogenic (recessive) g.94544249A>G g.94078693A>G - - ABCA4_000323 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Germline/De novo (untested) - - - - - DNA SEQ - - retinal disease MEH-mild-128 PubMed: Cornelis 2024, Journal: Cornelis 2024 - M - United Kingdom (Great Britain) - - - - - 1 Stéphanie Cornelis
+?/. - c.1253T>C r.(?) p.(Phe418Ser) Unknown - likely pathogenic (recessive) g.94544249A>G g.94078693A>G - - ABCA4_000323 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Germline/De novo (untested) - - - - - DNA SEQ - - retinal disease MEH-mild-143 PubMed: Cornelis 2024, Journal: Cornelis 2024 - F - United Kingdom (Great Britain) - - - - - 1 Stéphanie Cornelis
+?/. - c.1253T>C r.(?) p.(Phe418Ser) Unknown - likely pathogenic (recessive) g.94544249A>G g.94078693A>G - - ABCA4_000323 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Germline/De novo (untested) - - - - - DNA SEQ - - retinal disease MEH-mild-156 PubMed: Cornelis 2024, Journal: Cornelis 2024 - F - United Kingdom (Great Britain) - - - - - 1 Stéphanie Cornelis
+?/. - c.1253T>C r.(?) p.(Phe418Ser) Unknown - likely pathogenic (recessive) g.94544249A>G g.94078693A>G - - ABCA4_000323 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Germline/De novo (untested) - - - - - DNA SEQ - - retinal disease MEH-nonmild-265 PubMed: Cornelis 2024, Journal: Cornelis 2024 - F - United Kingdom (Great Britain) - - - - - 1 Stéphanie Cornelis
+?/. - c.1253T>C r.(?) p.(Phe418Ser) Unknown - likely pathogenic (recessive) g.94544249A>G g.94078693A>G - - ABCA4_000323 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Germline/De novo (untested) - - - - - DNA SEQ - - retinal disease MEH-nonmild-274 PubMed: Cornelis 2024, Journal: Cornelis 2024 - F - United Kingdom (Great Britain) - - - - - 1 Stéphanie Cornelis
+?/. - c.1253T>C r.(?) p.(Phe418Ser) Both (homozygous) - likely pathogenic (recessive) g.94544249A>G g.94078693A>G - - ABCA4_000323 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Germline/De novo (untested) - - - - - DNA SEQ - - retinal disease MEH-nonmild-285 PubMed: Cornelis 2024, Journal: Cornelis 2024 - M - United Kingdom (Great Britain) - - - - - 1 Stéphanie Cornelis
+?/. - c.1253T>C r.(?) p.(Phe418Ser) Unknown - likely pathogenic (recessive) g.94544249A>G g.94078693A>G - - ABCA4_000323 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Germline/De novo (untested) - - - - - DNA SEQ - - retinal disease MEH-nonmild-326 PubMed: Cornelis 2024, Journal: Cornelis 2024 - M - United Kingdom (Great Britain) - - - - - 1 Stéphanie Cornelis
+?/. - c.1253T>C r.(?) p.(Phe418Ser) Both (homozygous) - likely pathogenic (recessive) g.94544249A>G g.94078693A>G - - ABCA4_000323 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Germline/De novo (untested) - - - - - DNA SEQ - - retinal disease MEH-nonmild-338 PubMed: Cornelis 2024, Journal: Cornelis 2024 - F - United Kingdom (Great Britain) - - - - - 1 Stéphanie Cornelis
+?/. - c.1253T>C r.(?) p.(Phe418Ser) Both (homozygous) - likely pathogenic (recessive) g.94544249A>G g.94078693A>G - - ABCA4_000323 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Germline/De novo (untested) - - - - - DNA SEQ - - retinal disease MEH-other-98 PubMed: Cornelis 2024, Journal: Cornelis 2024 - M - United Kingdom (Great Britain) - - - - - 1 Stéphanie Cornelis
+?/. - c.1253T>C r.(?) p.(Phe418Ser) Unknown - likely pathogenic (recessive) g.94544249A>G g.94078693A>G - - ABCA4_000323 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Germline/De novo (untested) - - - - - DNA SEQ - - retinal disease MEH-nonmild-352 PubMed: Cornelis 2024, Journal: Cornelis 2024 - M - United Kingdom (Great Britain) - - - - - 1 Stéphanie Cornelis
+?/. - c.1253T>C r.(?) p.(Phe418Ser) Unknown - likely pathogenic (recessive) g.94544249A>G g.94078693A>G - - ABCA4_000323 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Germline/De novo (untested) - - - - - DNA SEQ - - retinal disease MEH-nonmild-410 PubMed: Cornelis 2024, Journal: Cornelis 2024 - F - United Kingdom (Great Britain) - - - - - 1 Stéphanie Cornelis
+/. - c.1253T>C r.(?) p.(Phe418Ser) Paternal (confirmed) ACMG pathogenic (recessive) g.94544249A>G g.94078693A>G - - ABCA4_000323 ACMG PP3, PM2, PP2, PP5_STRONG PubMed: Weisschuh 2024 193580 - Germline - - - - - DNA SEQ-NG - WGS ? STGD-411 PubMed: Weisschuh 2024 patient, no family history F - Germany - - - - - 1 Johan den Dunnen
+/. - c.1253T>C r.(?) p.(Phe418Ser) Unknown ACMG pathogenic (recessive) g.94544249A>G g.94078693A>G - - ABCA4_000323 ACMG PP3, PM2, PP2, PP5_STRONG PubMed: Weisschuh 2024 - - Germline - - - - - DNA SEQ-NG - WGS ? STGD-449 PubMed: Weisschuh 2024 patient, no family history F - Germany - - - - - 1 Johan den Dunnen
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