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.

15 entries on 1 page. Showing entries 1 - 15.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

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DNA change (genomic) (hg19)     

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Owner     
-?/. 6 c.763C>T r.(?) p.(Arg255Cys) Unknown - likely benign g.94564355G>A g.94098799G>A c.4283C>T p.T1428M heterozygous - ABCA4_000365 On its own not significantely found more often in published STGD compared to ExAC (p-value 0.22). However, together with other non-significant variants published related to STGD, they are significantly more often in STGD patients (p-value <0.01) PubMed: Oishi 2014 - - Germline - ExAC 12, 121236, 0, 0.00009898 - - - DNA SEQ-NG-I, PCR, SEQ - - retinal disease - PubMed: Oishi 2014 - ? ? Japan Japanese - - - - 1 Stéphanie Cornelis
?/. 6 c.763C>T r.(?) p.(Arg255Cys) Unknown - VUS g.94564355G>A g.94098799G>A CGT 764 TGT - ABCA4_000365 On its own not significantely found more often in published STGD compared to ExAC (p-value 0.22). However, together with other non-significant variants published related to STGD, they are significantly more often in STGD patients (p-value <0.01). PubMed: Ducroq 2002 - - Germline - ExAC 12, 121236, 0, 0.00009898 - - - DNA DHPLC, SEQ - - CORD - PubMed: Ducroq 2002 - ? ? France ? - - - - 1 Stéphanie Cornelis
?/. 6 c.763C>T r.(763c>u) p.(Arg255Cys) Parent #1 ACMG VUS g.94564355G>A g.94098799G>A - - ABCA4_000365 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 - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.763C>T r.(?) p.(Arg255Cys) Unknown - VUS g.94564355G>A g.94098799G>A ABCA4(NM_000350.2):c.763C>T (p.R255C) - ABCA4_000365 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.763C>T r.(?) p.(Arg255Cys) Unknown - pathogenic g.94564355G>A g.94098799G>A - - ABCA4_000365 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 - rs62645952 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.763C>T r.(?) p.(Arg255Cys) Parent #1 - pathogenic g.94564355G>A g.94098799G>A - - ABCA4_000365 1 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs62645952 Germline - 1/2795 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 1 Mohammed Faruq
?/. 6 c.763C>T r.(?) p.(Arg255Cys) Unknown - VUS g.94564355G>A g.94098799G>A c.763C>T p.(Arg255Cys) - ABCA4_000365 no variant 2nd chromosome PubMed: Koyanagi 2019 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease Unknown 1292 PubMed: Koyanagi 2019 mutations were not reported per patient. - ? - Japan - - - - 1 Stéphanie Cornelis
?/. 6 c.763C>T r.(?) p.(Arg255Cys) Unknown - VUS g.94564355G>A g.94098799G>A c.763C>T p.(Arg255Cys) - ABCA4_000365 - PubMed: Sun 2020 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease 7962 PubMed: Sun 2020 - M ? China China - - - - 1 Stéphanie Cornelis
+?/. - c.763C>T r.(?) p.(Arg255Cys) Unknown ACMG VUS g.94564355G>A - - - ABCA4_000365 - - - - Germline/De novo (untested) - - - - - DNA SEQ-NG-I - - RP IR_GH_0045 - - M - Korea, South (Republic) - - - - - 1 Jinu Han
+/. - c.763C>T r.(763c>u) p.(Arg255Cys) Maternal (confirmed) ACMG pathogenic (recessive) g.94564355G>A g.94098799G>A - - ABCA4_000365 no variant 2nd chromosome PubMed: Tian 2022 - - Germline yes - - - - DNA SEQ-NG-I - - STGD1 010528 PubMed: Tian 2022 - F no China - - - - - 1 Lu Tian
?/. - c.763C>T r.(?) p.(Arg255Cys) Unknown - VUS g.94564355G>A g.94098799G>A ABCA4 c.763C>T, p.R255C - ABCA4_000365 no zygosity and pathogenicity classification indicated PubMed: Ng 2021 - - Unknown ? - - - - DNA SEQ blood whole exome sequencing retinal disease RP-068 PubMed: Ng 2021 - M ? China - - - - - 1 LOVD
+?/. 6 c.763C>T r.(?) p.(Arg255Cys) Unknown - likely pathogenic (recessive) g.94564355G>A - c.763C>T - ABCA4_000365 - PubMed: Liu-2020 - - Germline - - - - - DNA SEQ-NG, SEQ - hereditary eye disease enrichment panel (HEDEP) retinal disease - PubMed: Liu-2020 - M - - - - - - - 1 LOVD
+?/. 6 c.763C>T r.(?) p.(Arg255Cys) Unknown - likely pathogenic (recessive) g.94564355G>A - c.763C>T - ABCA4_000365 - PubMed: Liu-2020 - - Germline - - - - - DNA SEQ-NG - hereditary eye disease enrichment panel (HEDEP) retinal disease - PubMed: Liu-2020 - M - - - - - - - 1 LOVD
?/. - c.763C>T r.(?) p.(Arg255Cys) Unknown - association g.94564355G>A g.94098799G>A ABCA4 c.763C>T, p.R255C - ABCA4_000365 risk factor PubMed: Peng 2016 - - Unknown ? 1/103 cases - - - DNA SEQ-NG, SEQ - next-generation sequencing customized panel and manipulated a whole-exon targeted-sequencing study OFC ? PubMed: Peng 2016 - - - Taiwan Taiwanese - - - - 1 LOVD
?/. - c.763C>T r.(?) p.(Arg255Cys) Unknown - VUS g.94564355G>A g.94098799G>A - - ABCA4_000365 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Germline/De novo (untested) - - - - - DNA SEQ - - retinal disease MEH-nonmild-356 PubMed: Cornelis 2024, Journal: Cornelis 2024 - M - United Kingdom (Great Britain) - - - - - 1 Stéphanie Cornelis
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